Temat: "Survival of Motor Neuron 2 Protein" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: An early Transcriptomic Investigation in Adult Patients with Spinal Muscular Atrophy Under Treatment with Nusinersen.
Autorzy:: Liguori M; National Research Council, Department of Biomedicine, Institute of Biomedical Technologies - Bari Unit, 70125, Bari, Italy. .
Bianco A; National Research Council, Department of Biomedicine, Institute of Biomedical Technologies - Bari Unit, 70125, Bari, Italy.
Introna A; Neurology Unit, Department of Translational Biomedicine and Neuroscience, University of Bari 'Aldo Moro', 70124, Bari, Italy.
Consiglio A; National Research Council, Department of Biomedicine, Institute of Biomedical Technologies - Bari Unit, 70125, Bari, Italy.
Milella G; Neurology Unit, Department of Translational Biomedicine and Neuroscience, University of Bari 'Aldo Moro', 70124, Bari, Italy.
Abbatangelo E; National Research Council, Department of Biomedicine, Institute of Biomedical Technologies - Bari Unit, 70125, Bari, Italy.
D'Errico E; Neurology Unit, Department of Translational Biomedicine and Neuroscience, University of Bari 'Aldo Moro', 70124, Bari, Italy.
Licciulli F; National Research Council, Department of Biomedicine, Institute of Biomedical Technologies - Bari Unit, 70125, Bari, Italy.
Grillo G; National Research Council, Department of Biomedicine, Institute of Biomedical Technologies - Bari Unit, 70125, Bari, Italy.
Simone IL; School of Medicine, University of Bari 'Aldo Moro', 70124, Bari, Italy.; Pokaż więcej
Źródło:: Journal of molecular neuroscience : MN [J Mol Neurosci] 2024 Sep 26; Vol. 74 (4), pp. 89. Date of Electronic Publication: 2024 Sep 26.
Typ publikacji:: Journal Article
MeSH Terms:: Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/drug therapy
MicroRNAs*/genetics
MicroRNAs*/metabolism
Oligonucleotides*/therapeutic use
Oligonucleotides*/pharmacology
Transcriptome*
Survival of Motor Neuron 2 Protein*/genetics
Survival of Motor Neuron 2 Protein*/metabolism
Humans ; Adult ; Male ; Female ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism ; Middle Aged

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Tytuł:: Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation.
Autorzy:: Grass T; German Center for Neurodegenerative Diseases e.V. (DZNE), Dresden, Germany. Electronic address: .
Dokuzluoglu Z; German Center for Neurodegenerative Diseases e.V. (DZNE), Dresden, Germany.
Buchner F; German Center for Neurodegenerative Diseases e.V. (DZNE), Dresden, Germany.
Rosignol I; German Center for Neurodegenerative Diseases e.V. (DZNE), Dresden, Germany; Technische Universität Dresden (TUD), Center for Regenerative Therapies Dresden, Dresden, Germany.
Thomas J; German Center for Neurodegenerative Diseases e.V. (DZNE), Dresden, Germany.
Caldarelli A; German Center for Neurodegenerative Diseases e.V. (DZNE), Dresden, Germany.
Dalinskaya A; German Center for Neurodegenerative Diseases e.V. (DZNE), Dresden, Germany.
Becker J; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.
Rost F; DRESDEN-concept Genome Center, Technology Platform at the Center for Molecular and Cellular Bioengineering, TUD, Dresden, Germany.
Marass M; Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany; Center for Systems Biology Dresden, Dresden, Germany.
Wirth B; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany; Center for Rare Diseases, University Hospital of Cologne, Cologne, Germany.
Beyer M; Systems Medicine, DZNE, Bonn, Germany; PRECISE Platform for Single Cell Genomics and Epigenomics, DZNE & University of Bonn and West German Genome Center, Bonn, Germany; Immunogenomics & Neurodegeneration, DZNE, Bonn, Germany.
Bonaguro L; Systems Medicine, DZNE, Bonn, Germany; Genomics & Immunoregulation, LIMES Institute, University of Bonn, Bonn, Germany.
Rodriguez-Muela N; German Center for Neurodegenerative Diseases e.V. (DZNE), Dresden, Germany; Technische Universität Dresden (TUD), Center for Regenerative Therapies Dresden, Dresden, Germany; Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany. Electronic address: .; Pokaż więcej
Źródło:: Cell reports. Medicine [Cell Rep Med] 2024 Aug 20; Vol. 5 (8), pp. 101659. Date of Electronic Publication: 2024 Jul 26.
Typ publikacji:: Journal Article
MeSH Terms:: Organoids*/pathology
Organoids*/metabolism
Muscular Atrophy, Spinal*/pathology
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Induced Pluripotent Stem Cells*/metabolism
Induced Pluripotent Stem Cells*/pathology
Motor Neurons*/pathology
Motor Neurons*/metabolism
Survival of Motor Neuron 1 Protein*/genetics
Survival of Motor Neuron 1 Protein*/metabolism
Survival of Motor Neuron 2 Protein*/genetics
Survival of Motor Neuron 2 Protein*/metabolism
Humans ; Animals ; Mice ; Spinal Cord/pathology ; Spinal Cord/metabolism ; Neural Stem Cells/metabolism ; Neural Stem Cells/pathology

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Tytuł:: Improvement of TaC9-ABE mediated correction of human SMN2 gene.
Autorzy:: Peng X; Guangdong Provincial Key Laboratory of Large Animal Models for Biomedicine, South China Institute of Large Animal Models for Biomedicine, Wuyi University, Jiangmen, China.
Chi Y; Guangdong Provincial Key Laboratory of Large Animal Models for Biomedicine, South China Institute of Large Animal Models for Biomedicine, Wuyi University, Jiangmen, China.
Wang J; Guangdong Provincial Key Laboratory of Large Animal Models for Biomedicine, South China Institute of Large Animal Models for Biomedicine, Wuyi University, Jiangmen, China.
Li S; Guangdong Provincial Key Laboratory of Large Animal Models for Biomedicine, South China Institute of Large Animal Models for Biomedicine, Wuyi University, Jiangmen, China.
Liu Y; BGI-Hangzhou, Hangzhou, China.
Tang C; Guangdong Provincial Key Laboratory of Large Animal Models for Biomedicine, South China Institute of Large Animal Models for Biomedicine, Wuyi University, Jiangmen, China.
Zhou X; Guangdong Provincial Key Laboratory of Large Animal Models for Biomedicine, South China Institute of Large Animal Models for Biomedicine, Wuyi University, Jiangmen, China.
Lu X; Guangdong Provincial Key Laboratory of Large Animal Models for Biomedicine, South China Institute of Large Animal Models for Biomedicine, Wuyi University, Jiangmen, China.
Gao Y; Guangdong Provincial Key Laboratory of Large Animal Models for Biomedicine, South China Institute of Large Animal Models for Biomedicine, Wuyi University, Jiangmen, China.
Lai L; Guangdong Provincial Key Laboratory of Large Animal Models for Biomedicine, South China Institute of Large Animal Models for Biomedicine, Wuyi University, Jiangmen, China.; CAS Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
Chen M; Guangdong Provincial Key Laboratory of Large Animal Models for Biomedicine, South China Institute of Large Animal Models for Biomedicine, Wuyi University, Jiangmen, China.
Zou Q; Guangdong Provincial Key Laboratory of Large Animal Models for Biomedicine, South China Institute of Large Animal Models for Biomedicine, Wuyi University, Jiangmen, China.; Pokaż więcej
Źródło:: Biotechnology and bioengineering [Biotechnol Bioeng] 2024 Oct; Vol. 121 (10), pp. 3059-3067. Date of Electronic Publication: 2024 Jun 24.
Typ publikacji:: Journal Article
MeSH Terms:: Survival of Motor Neuron 2 Protein*/genetics
Gene Editing*/methods
Induced Pluripotent Stem Cells*/metabolism
Humans ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/therapy ; Adenine/metabolism ; Adenine/analogs & derivatives ; Cell Line

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Tytuł:: Transcriptome- and proteome-wide effects of a circular RNA encompassing four early exons of the spinal muscular atrophy genes.
Autorzy:: Luo D; Department of Biomedical Sciences, College of Veterinary Medicine, Iowa State University, Ames, IA, 50011, USA.
Ottesen EW; Department of Biomedical Sciences, College of Veterinary Medicine, Iowa State University, Ames, IA, 50011, USA.
Lee JH; Department of Biomedical Sciences, College of Veterinary Medicine, Iowa State University, Ames, IA, 50011, USA.
Singh RN; Department of Biomedical Sciences, College of Veterinary Medicine, Iowa State University, Ames, IA, 50011, USA. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2024 May 07; Vol. 14 (1), pp. 10442. Date of Electronic Publication: 2024 May 07.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Proteome*/metabolism
RNA, Circular*/genetics
RNA, Circular*/metabolism
Survival of Motor Neuron 2 Protein*/genetics
Survival of Motor Neuron 2 Protein*/metabolism
Transcriptome*
Survival of Motor Neuron 1 Protein*/genetics
Survival of Motor Neuron 1 Protein*/metabolism
Exons*/genetics
Humans ; HEK293 Cells ; Gene Expression Regulation

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Tytuł:: Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.
Autorzy:: Efimova IY; Research Centre for Medical Genetics, Moscow, Russia.
Zinchenko RA; Research Centre for Medical Genetics, Moscow, Russia.
Marakhonov AV; Research Centre for Medical Genetics, Moscow, Russia. Electronic address: .
Balinova NV; Research Centre for Medical Genetics, Moscow, Russia.
Mikhalchuk KA; Research Centre for Medical Genetics, Moscow, Russia.
Shchagina OA; Research Centre for Medical Genetics, Moscow, Russia.
Polyakov AV; Research Centre for Medical Genetics, Moscow, Russia.
Mudaeva DA; Republican Perinatal Center, Grozny, Chechen Republic, Russia.
Saydaeva DH; State Budgetary Institution 'Maternity Hospital' of the Ministry of Healthcare of the Chechen Republic, Grozny, Chechen Republic, Russia.
Matulevich SA; S.V. Ochapovsky Regional Clinical Hospital No. 1, Krasnodar, Krasnodar, Russia.
Parshintseva PD; Children's Regional Clinical Hospital of the Ministry of Health of Krasnodar Region, Krasnodar, Russia.
Belyashova EY; Orenburg Regional Clinical Hospital No. 2, Orenburg, Russia.
Yakubovskiy GI; Ryazan Regional Perinatal Center, Ryazan, Russia.
Tebieva IS; North-Ossetian State Medical Academy, Vladikavkaz, Russia; Republican Children's Clinical Hospital of the Republic of North Ossetia-Alania, Vladikavkaz, Russia.
Gabisova YV; Republican Children's Clinical Hospital of the Republic of North Ossetia-Alania, Vladikavkaz, Russia.
Irinina NA; The State Budgetary Healthcare Institution of the Vladimir Region 'Regional Clinical Hospital', Vladimir, Russia.
Jamschikova AV; The State Budgetary Healthcare Institution of the Vladimir Region 'Regional Clinical Hospital', Vladimir, Russia.
Nurgalieva LR; Republican Center for Medical Genetics, Ufa, Russia.
Saifullina EV; Bashkir State Medical University, Ufa, Russia.
Nevmerzhitskaya KS; Regional Clinical Children Hospital, Yekaterinburg, Russia.
Belyaeva TI; Clinical Diagnostic Center 'Maternal and Child Health', Yekaterinburg, Russia.
Romanova OS; Clinical Diagnostic Center 'Maternal and Child Health', Yekaterinburg, Russia.
Voronin SV; Research Centre for Medical Genetics, Moscow, Russia.
Kutsev SI; Research Centre for Medical Genetics, Moscow, Russia.; Pokaż więcej
Źródło:: Pediatric neurology [Pediatr Neurol] 2024 Jul; Vol. 156, pp. 147-154. Date of Electronic Publication: 2024 Apr 24.
Typ publikacji:: Journal Article
MeSH Terms:: Neonatal Screening*
Survival of Motor Neuron 2 Protein*/genetics
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/epidemiology
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/therapy
Survival of Motor Neuron 1 Protein*/genetics
Humans ; Pilot Projects ; Infant, Newborn ; Russia/epidemiology ; Male ; Female ; Prevalence ; Incidence

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Tytuł:: Preemptive dual therapy for children at risk for infantile-onset spinal muscular atrophy.
Autorzy:: Matesanz SE; Division of Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Brigatti KW; Clinic for Special Children, Gordonville, Pennsylvania, USA.
Young M; Clinic for Special Children, Gordonville, Pennsylvania, USA.
Yum SW; Division of Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Strauss KA; Clinic for Special Children, Gordonville, Pennsylvania, USA.; Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.; Pokaż więcej
Źródło:: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Jul; Vol. 11 (7), pp. 1868-1878. Date of Electronic Publication: 2024 May 31.
Typ publikacji:: Journal Article
MeSH Terms:: Survival of Motor Neuron 2 Protein*/genetics
Spinal Muscular Atrophies of Childhood*/drug therapy
Spinal Muscular Atrophies of Childhood*/genetics
Genetic Therapy*/methods
Survival of Motor Neuron 1 Protein*/genetics
Humans ; Male ; Female ; Infant ; Oligonucleotides/administration & dosage ; Oligonucleotides/pharmacology ; Infant, Newborn ; Child, Preschool ; Treatment Outcome ; Combined Modality Therapy ; Azo Compounds ; Pyrimidines

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Tytuł:: Cognitive function in SMA patients with 2 or 3 SMN2 copies treated with SMN-modifying or gene addition therapy during the first year of life.
Autorzy:: Steffens P; University Medical Center Hamburg-Eppendorf, Department of Pediatrics, Hamburg, Germany. Electronic address: .
Weiss D; University Medical Center Hamburg-Eppendorf, Department of Pediatrics, Hamburg, Germany.
Perez A; University Medical Center Hamburg-Eppendorf, Department of Pediatrics, Hamburg, Germany.
Appel M; University Medical Center Hamburg-Eppendorf, Department of Pediatrics, Hamburg, Germany.
Weber P; University Medical Center Hamburg-Eppendorf, Institute of Medical Biometry and Epidemiology, Hamburg, Germany.
Weiss C; Charité Universitätsmedizin Berlin, Department of Pediatric Neurology, Augustenburger Platz 1, 13353, Berlin, Germany.
Stoltenburg C; Charité Universitätsmedizin Berlin, Department of Pediatric Neurology, Augustenburger Platz 1, 13353, Berlin, Germany.
Ehinger U; Charité Universitätsmedizin Berlin, Department of Pediatric Neurology, Augustenburger Platz 1, 13353, Berlin, Germany.
von der Hagen M; Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Schallner J; Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Claussen B; Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Lode I; Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Hahn A; Department of General Pediatrics and Neonatology and Department of Child Neurology, University Hospital, Gießen, Germany.
Schuler R; Department of General Pediatrics and Neonatology and Department of Child Neurology, University Hospital, Gießen, Germany.
Ruß L; Department of General Pediatrics and Neonatology and Department of Child Neurology, University Hospital, Gießen, Germany.
Ziegler A; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Denecke J; University Medical Center Hamburg-Eppendorf, Department of Pediatrics, Hamburg, Germany.
Johannsen J; University Medical Center Hamburg-Eppendorf, Department of Pediatrics, Hamburg, Germany.; Pokaż więcej
Źródło:: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2024 Jul; Vol. 51, pp. 17-23. Date of Electronic Publication: 2024 May 08.
Typ publikacji:: Journal Article
MeSH Terms:: Survival of Motor Neuron 2 Protein*/genetics
Spinal Muscular Atrophies of Childhood*/therapy
Spinal Muscular Atrophies of Childhood*/genetics
Spinal Muscular Atrophies of Childhood*/psychology
Humans ; Male ; Female ; Child, Preschool ; Infant ; Genetic Therapy/methods ; Cognitive Dysfunction/etiology ; Cognitive Dysfunction/therapy ; Cognition/physiology ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/therapy

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Tytuł:: Advancing understanding and treatment of spinal muscular atrophy with four SMN2 copies: a critical review.
Autorzy:: Rangwala BS; Department of Medicine, Jinnah Sindh Medical University, Rafiqi H J Shaheed Road, Karachi, Pakistan. .
Rangwala HS; Department of Medicine, Jinnah Sindh Medical University, Rafiqi H J Shaheed Road, Karachi, Pakistan.; Pokaż więcej
Źródło:: Journal of neurology [J Neurol] 2024 Jun; Vol. 271 (6), pp. 2955-2956. Date of Electronic Publication: 2024 Mar 04.
Typ publikacji:: Review; Letter
MeSH Terms:: Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/therapy
Survival of Motor Neuron 2 Protein*/genetics
Humans

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Tytuł:: CRISPR-dCas13d-based deep screening of proximal and distal splicing-regulatory elements.
Autorzy:: Recinos Y; Department of Systems Biology, Columbia University, New York, NY, 10032, USA.; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY, 10032, USA.
Ustianenko D; Department of Systems Biology, Columbia University, New York, NY, 10032, USA.; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY, 10032, USA.; Flagship Pioneering, Cambridge, MA, 02142, USA.
Yeh YT; Department of Systems Biology, Columbia University, New York, NY, 10032, USA.; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY, 10032, USA.
Wang X; Department of Systems Biology, Columbia University, New York, NY, 10032, USA.; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY, 10032, USA.
Jacko M; Department of Systems Biology, Columbia University, New York, NY, 10032, USA.; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY, 10032, USA.; Aperture Therapeutics, Inc., San Carlos, CA, 94070, USA.
Yesantharao LV; Department of Systems Biology, Columbia University, New York, NY, 10032, USA.; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY, 10032, USA.; Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Wu Q; Department of Systems Biology, Columbia University, New York, NY, 10032, USA.; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY, 10032, USA.
Zhang C; Department of Systems Biology, Columbia University, New York, NY, 10032, USA. .; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY, 10032, USA. .; Pokaż więcej
Źródło:: Nature communications [Nat Commun] 2024 May 07; Vol. 15 (1), pp. 3839. Date of Electronic Publication: 2024 May 07.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: RNA Splicing*/genetics
CRISPR-Cas Systems*
Survival of Motor Neuron 2 Protein*/genetics
RNA, Guide, CRISPR-Cas Systems*/genetics
Introns*/genetics
Exons*/genetics
Humans ; HEK293 Cells ; Oligonucleotides, Antisense/genetics ; Muscular Atrophy, Spinal/genetics ; Regulatory Sequences, Nucleic Acid/genetics ; RNA Precursors/genetics ; RNA Precursors/metabolism

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Tytuł:: 5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
Autorzy:: Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, Dr. Von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80337, Munich, Germany. .; School of Medicine, Klinikum Rechts Der Isar, Department of Human Genetics, Technical University of Munich, Munich, Germany. .
Tacke M; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, Dr. Von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80337, Munich, Germany.
König A; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, Dr. Von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80337, Munich, Germany.
Baumann M; Division of Pediatric Neurology, Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Baumgartner M; Department of Children and Adolescents, Ordensklinikum Linz Barmherzige Schwestern, Linz, Austria.
Steinbach M; Department of Neurology, University Medical Center Schleswig-Holstein, Kiel, Germany.
Bernert G; Clinic for Pediatrics, Gesundheitsverbund Wien, Vienna, Austria.
Blaschek A; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, Dr. Von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80337, Munich, Germany.
Deschauer M; School of Medicine, Klinikum Rechts Der Isar, Department of Neurology, Technical University of Munich, Munich, Germany.
Flotats-Bastardas M; Department of Neuropaediatrics, Saarland University Hospital, Homburg, Germany.
Friese J; Department of Neuropediatrics, University Hospital Bonn, Center for Pediatrics, Bonn, Germany.
Goldbach S; Deutsche Gesellschaft Für Muskelkranke E.V., Freiburg, Germany.
Gross M; Department of Neurological Intensive Care and Rehabilitation, Evangelisches Krankenhaus Oldenburg, Oldenburg, Germany.
Günther R; University Hospital Carl Gustav Carus Dresden at Technische Universität Dresden, Dresden, Germany.
Hahn A; Department of Child Neurology, Justus-Liebig-University Gießen, Gießen, Germany.
Hagenacker T; Department of Neurology, and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Medicine Essen, Essen, Germany.
Hauser E; Department for Neuropädiatrie, Landeskrankenhaus Mödling, Mödling, Austria.
Horber V; Department of Paediatric Neurology, University Children's Hospital Tübingen, Tübingen, Germany.
Illsinger S; Hannover Medical School, Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, Hannover, Germany.
Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kamm C; Department of Neurology, University of Rostock, Rostock, Germany.
Koch JC; Klinik Für Neurologie Universitätsmedizin Göttingen, Göttingen, Germany.
Koelbel H; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.
Koehler C; Klinik Für Kinder-Und Jugendmedizin der Ruhr-Universität Bochum Im St. Josef-Hospital, Bochum, Germany.
Kolzter K; Kliniken Köln, Sozialpädiatrisches Zentrum, Cologne, Germany.
Lochmüller H; Division of Neurology, Department of Medicine, Children's Hospital of Eastern Ontario Research Institute, The Ottawa Hospital and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Ludolph A; Department for Neurology, University of Ulm, Ulm, Germany.; Department of Neurology, Ulm University, Ulm, Germany.
Mensch A; Department of Neurology, University Medicine Halle, Halle, Saale, Germany.
Meyer Zu Hoerste G; Department of Neurology, University Hospital Münster, Münster, Germany.
Mueller M; Department for Neuropediatrics, University of Wuerzburg, Würzburg, Germany.
Mueller-Felber W; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children With Medical Complexity, Dr. Von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80337, Munich, Germany.
Neuwirth C; Neuromuscular Diseases Unit/ALS Clinic, Kantonsspital St. Gallen, St. Gallen, Switzerland.
Petri S; Department of Neurology, Hannover Medical School, Hannover, Germany.
Probst-Schendzielorz K; Initiative SMA der Deutschen Gesellschaft Für Muskelkranke, Freiburg, Germany.
Pühringer M; Department of Pediatrics and Adolescent Medicine, Kepler University Hospital Linz, Linz, Austria.
Steinbach R; Department of Neurology, University Hospital Jena, Jena, Germany.
Schara-Schmidt U; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, Essen, Germany.
Schimmel M; Pediatric Neurology, Pediatrics and Adolescent Medicine, University Medical Center Augsburg, Augsburg, Germany.
Schrank B; Department of Neurology, DKD Helios Klinik Wiesbaden, Wiesbaden, Germany.
Schwartz O; Universitätsklinikum Münster Klinik Für Kinder- Und Jugendpädiatrie- Neuropädiatrie, Albert-Schweitzer-Campus 1, Münster, Germany.
Schlachter K; Department of Neuropediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.
Schwerin-Nagel A; Medical University Graz Childrens Hospital, Graz, Austria.
Schreiber G; Department of Neuropediatics, Klinikum Kassel, Kassel, Germany.
Smitka M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany.
Topakian R; Department of Neurology, Academic Teaching Hospital Wels-Grieskirchen, Wels, Austria.
Trollmann R; Department of Pediatrics, Friedrich-Alexander Universität Erlangen-Nürnberg Pediatric Neurology, Erlangen, Germany.
Tuerk M; Department of Neurology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany.
Theophil M; DRK Kliniken Berlin - Westend Kinderklinik, Berlin, Germany.
Rauscher C; Department for Neuropediatrics, University of Salzburg, Salzburg, Austria.
Vorgerd M; Department of Neurology, BG-University Hospital Bergmannsheil gGmbH, Heimer Institute for Muscle Research, Ruhr-University Bochum, Bochum, Germany.
Walter MC; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, Ludwig Maximilians University, Munich, Germany.
Weiler M; Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.
Weiss C; Charité - University Medicine Berlin, Center for Chronically Sick Children, Berlin, Germany.
Wilichowski E; Department for Neuropediatrics, University Göttingen, Göttingen, Germany.
Wurster CD; Department of Neurology, Ulm University, Ulm, Germany.
Wunderlich G; German Center for Neurodegenerative Diseases, DZNE, Site Ulm, Ulm, Germany.; Faculty of Medicine and University Hospital, Department of Neurology and Center for Rare Diseases, University of Cologne, Cologne, Germany.
Zeller D; Department of Neurology, University Hospital Würzburg, Würzburg, Germany.
Ziegler A; Center for Childhood and Adolescent Medicine, Department of Metabolic Medicine and Pediatric Neurology, University Hospital Heidelberg, Heidelberg, Germany.
Kirschner J; Klinik Für Kinder-Und Jugendmedizin der Ruhr-Universität Bochum Im St. Josef-Hospital, Bochum, Germany.
Pechmann A; Klinik Für Kinder-Und Jugendmedizin der Ruhr-Universität Bochum Im St. Josef-Hospital, Bochum, Germany.; Pokaż więcej
Corporate Authors:: SMArtCARE study group
Źródło:: Journal of neurology [J Neurol] 2024 May; Vol. 271 (5), pp. 2787-2797. Date of Electronic Publication: 2024 Feb 27.
Typ publikacji:: Journal Article
MeSH Terms:: Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/diagnosis
Survival of Motor Neuron 2 Protein*/genetics
Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Age of Onset ; Austria/epidemiology ; Disease Progression ; Germany ; Neonatal Screening ; Registries ; Retrospective Studies ; Switzerland

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Skocz do pozycji: 11.

Tytuł:: A super minigene with a short promoter and truncated introns recapitulates essential features of transcription and splicing regulation of the SMN1 and SMN2 genes.
Autorzy:: Ottesen EW; Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, USA.
Seo J; Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, USA.
Luo D; Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, USA.
Singh NN; Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, USA.
Singh RN; Department of Biomedical Sciences, Iowa State University, Ames, IA 50011, USA.; Pokaż więcej
Źródło:: Nucleic acids research [Nucleic Acids Res] 2024 Apr 24; Vol. 52 (7), pp. 3547-3571.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:: Survival of Motor Neuron 2 Protein*/genetics
Survival of Motor Neuron 2 Protein*/metabolism
Introns*/genetics
Survival of Motor Neuron 1 Protein*/genetics
Survival of Motor Neuron 1 Protein*/metabolism
Promoter Regions, Genetic*
Exons*
Transcription, Genetic*
Humans ; RNA Splicing ; Serine-Arginine Splicing Factors/metabolism ; Serine-Arginine Splicing Factors/genetics ; Nonsense Mediated mRNA Decay ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; DEAD-box RNA Helicases/genetics ; DEAD-box RNA Helicases/metabolism ; RNA Precursors/metabolism ; RNA Precursors/genetics

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Skocz do pozycji: 12.

Tytuł:: 270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10-12 March, 2023, Hoofddorp, the Netherlands.
Autorzy:: Abiusi E; Section of Genomic Medicine, Department of Public Health and Life Sciences, Università Cattolica del Sacro Cuore, Roma, Italy
Costa-Roger M; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain
Bertini ES; Research Unit of Neuromuscular Disease, Bambino Gesu’ Children's Hospital, IRCCS, Roma, Italy
Tiziano FD; Section of Genomic Medicine, Department of Public Health and Life Sciences, Università Cattolica del Sacro Cuore, Roma, Italy; Complex Unit of Medical Genetics, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy
Tizzano EF; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain
Abiusi E; Section of Genomic Medicine, Dept. of Life Sciences and Public Health, Catholic University of the Sacred Heart, Roma, Italy
Baranello G; The Dubowitz Neuromuscular Centre, Developmental Neuroscience Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, NIHR Great Ormond Street Hospital Biomedical Research Centre & Great Ormond Street Hospital NHS Foundation Trust, 30 Guilford Street, London WC1N 1EH, UK
Bertini E; Italy, Research Unit of Neuromuscular Disease, Bambino Gesù Children's Hospital, IRCCS, Roma, Italy
Boemer F; Biochemical Genetics Lab, Department of Human Genetics, University Hospital, University of Liège, 4000 Liège, Belgium
Burghes A; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA
Codina-Solà M; Neuromuscular Reference Center, Department of Paediatrics, University Hospital Liege & University of Liege, Belgium
Costa-Roger M; Department of Neurology & Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, the Netherlands
Dangouloff T; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
Groen E; Department of Neurology, Medical University of Warsaw, Warsaw, Poland
Gos M; Department of Neuropediatrics and Muscle Disorders, Medical Center University of Freiburg, Faculty of Medicine, Freiburg, Germany
Jędrzejowska M; Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands
Kirschner J; Centre for Neuromuscular Disorders, Center for Translational Neuro and Behavioral Sciences, Department of Pediatric Neurology, University Duisburg-Essen, 45147 Essen, Germany
Lemmink HH; AFM Téléthon, Évry, France; SMA Europe; European Alliance for Newborn Screening in Spinal Muscular Atrophy
Müller-Felber W; Pediatric Neuromuscular Unit (NEIDF Reference Center at FILNEMUS & Euro-NMD), Child Neurology Department, Raymond Poincaré Hospital (UVSQ), APHP Université Paris Saclay, Garches France
Ouillade MC; Fundacja SMA, Warsaw, Poland; SMA Europe; European Alliance for Newborn Screening in Spinal Muscular Atrophy
Quijano-Roy S; Univ Rouen Normandie, Inserm U1245, Normandie Univ and CHU Rouen, Department of Genetics and Nord/Est/Ile de France Neuromuscular Reference Center, F-76000 Rouen, France
Rucinski K; Institute of Medical Genomics, Dept. of Life Sciences and Public Health, Catholic University of the Sacred Heart, and Complex Unit of Medical Genetics, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy
Saugier-Veber P; Institute of Human Genetics, University Hospital of Cologne, Center for Molecular Medicine, University of Cologne and Center for Rare Diseases Cologne, University Hopsital of Cologne, Cologne, Germany
Tiziano FD; Institute of Medical Genomics, Dept. of Life Sciences and Public Health, Catholic University of the Sacred Heart, and Complex Unit of Medical Genetics, Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Roma, Italy
Tizzano EF; Clinical and Molecular Genetics Area, Vall d'Hebron Hospital; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain
Wirth B; Institute of Human Genetics, University Hospital of Cologne, Center for Molecular Medicine, University of Cologne and Center for Rare Diseases Cologne, University Hopsital of Cologne, Cologne, Germany; Pokaż więcej
Corporate Authors:: SMN2 Study group
Źródło:: Neuromuscular disorders : NMD [Neuromuscul Disord] 2024 Jan; Vol. 34, pp. 114-122. Date of Electronic Publication: 2023 Dec 14.
Typ publikacji:: Congress
MeSH Terms:: Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Survival of Motor Neuron 2 Protein*/genetics
Humans ; Biomarkers/analysis ; Consensus Development Conferences as Topic ; Gene Dosage ; Prognosis

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Skocz do pozycji: 13.

Tytuł:: Ubiquitination Insight from Spinal Muscular Atrophy-From Pathogenesis to Therapy: A Muscle Perspective.
Autorzy:: Bolado-Carrancio A; Departamento de Biología Molecular, Facultad de Medicina, Universidad de Cantabria-and Instituto de Investigación Marqués de Valdecilla (IDIVAL), 39011 Santander, Spain.
Tapia O; Departamento de Ciencias Médicas Básicas, Instituto de Tecnologías Biomédicas, Universidad de la Laguna, 38200 La Laguna, Spain.
Rodríguez-Rey JC; Departamento de Biología Molecular, Facultad de Medicina, Universidad de Cantabria-and Instituto de Investigación Marqués de Valdecilla (IDIVAL), 39011 Santander, Spain.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 13; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 13.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Ubiquitination*
Muscular Atrophy, Spinal*/metabolism
Muscular Atrophy, Spinal*/therapy
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/pathology
Survival of Motor Neuron 1 Protein*/genetics
Survival of Motor Neuron 1 Protein*/metabolism
Humans ; Animals ; Proteasome Endopeptidase Complex/metabolism ; Ubiquitin/metabolism ; Survival of Motor Neuron 2 Protein/genetics ; Survival of Motor Neuron 2 Protein/metabolism ; Ubiquitin-Activating Enzymes

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Skocz do pozycji: 14.

Tytuł:: Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening.
Autorzy:: Trollmann R; Division of Pediatric Neurology, Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nürnberg, Loschgestr. 15, 91054, Erlangen, Germany. .
Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Vill K; Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig Maximilians University Hospital, Ludwig Maximilians University, Munich, Germany.
Köhler C; St. Josef-Hospital, Universitätsklinik für Kinder- und Jugendmedizin, Abteilung für Neuropädiatrie und Sozialpädiatrie, Ruhr-Universität Bochum, Bochum, Germany.
Hahn A; Department of Child Neurology, Justus-Liebig University, Giessen, Germany.
Illsinger S; Hannover Medical School, Clinic for Pediatric Kidney-, Liver- and Metabolic Diseases, Hannover, Germany.
Pechmann A; Department of Neuropediatrics and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Hagen MV; Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Müller-Felber W; Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, Ludwig Maximilians University Hospital, Ludwig Maximilians University, Munich, Germany.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 26; Vol. 19 (1), pp. 353. Date of Electronic Publication: 2024 Sep 26.
Typ publikacji:: Journal Article; Multicenter Study
MeSH Terms:: Neonatal Screening*/methods
Infant, Premature*
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/therapy
Humans ; Infant, Newborn ; Male ; Female ; Germany ; Retrospective Studies ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 2 Protein/genetics

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Skocz do pozycji: 15.

Tytuł:: A rapid and easy-to-use spinal muscular atrophy screening tool based on primers with high specificity and amplification efficiency for SMN1 combined with single-stranded tag hybridization assay.
Autorzy:: Hirano M; Division of Molecular Oncology, Aichi Cancer Center Research Institute, Nagoya, Aichi, Japan.; Craif Inc., Tokyo, Japan.
Sahashi K; Department of Clinical Research Education, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
Ichikawa Y; Craif Inc., Tokyo, Japan.
Katsuno M; Department of Clinical Research Education, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.; Institute of Innovation for Future Society of Nagoya University, Nagoya, Aichi, Japan.
Natsume A; Institute of Innovation for Future Society of Nagoya University, Nagoya, Aichi, Japan.; Kawamura Medical Associates, Nagoya, Aichi, Japan.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2024 Aug 01; Vol. 19 (8), pp. e0308179. Date of Electronic Publication: 2024 Aug 01 (Print Publication: 2024).
Typ publikacji:: Journal Article
MeSH Terms:: Survival of Motor Neuron 1 Protein*/genetics
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/diagnosis
DNA Primers*/genetics
Humans ; Sensitivity and Specificity ; Nucleic Acid Hybridization/methods ; Infant, Newborn ; Exons/genetics ; Female ; Male ; Survival of Motor Neuron 2 Protein/genetics ; Neonatal Screening/methods

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Skocz do pozycji: 16.

Tytuł:: Efficient systemic CNS delivery of a therapeutic antisense oligonucleotide with a blood-brain barrier-penetrating ApoE-derived peptide.
Autorzy:: Yeoh YQ; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3010, Australia.
Amin A; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3010, Australia.
Cuic B; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3010, Australia.
Tomas D; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3010, Australia.
Turner BJ; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3010, Australia.
Shabanpoor F; The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3010, Australia; School of Chemistry, University of Melbourne, VIC 3010, Australia. Electronic address: .; Pokaż więcej
Źródło:: Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie [Biomed Pharmacother] 2024 Jun; Vol. 175, pp. 116737. Date of Electronic Publication: 2024 May 14.
Typ publikacji:: Journal Article
MeSH Terms:: Blood-Brain Barrier*/metabolism
Blood-Brain Barrier*/drug effects
Oligonucleotides, Antisense*/administration & dosage
Oligonucleotides, Antisense*/pharmacology
Oligonucleotides, Antisense*/pharmacokinetics
Apolipoproteins E*/metabolism
Mice, Transgenic*
Animals ; Humans ; Mice ; Morpholinos/administration & dosage ; Morpholinos/pharmacokinetics ; Morpholinos/pharmacology ; Survival of Motor Neuron 2 Protein/genetics ; Survival of Motor Neuron 2 Protein/metabolism ; Muscular Atrophy, Spinal/drug therapy ; Drug Delivery Systems/methods ; Fibroblasts/metabolism ; Fibroblasts/drug effects ; Brain/metabolism ; Brain/drug effects ; Peptides/administration & dosage ; Peptides/pharmacology ; Peptides/chemistry ; Peptides/pharmacokinetics ; Cell-Penetrating Peptides/chemistry

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Skocz do pozycji: 17.

Tytuł:: The diversity of splicing modifiers acting on A-1 bulged 5'-splice sites reveals rules for rational drug design.
Autorzy:: Malard F; Université de Bordeaux, Inserm U1212, CNRS UMR5320, ARNA unit, 146 rue Léo Saignat, 33076 Bordeaux Cedex, France.; Institut Européen de Chimie et Biologie, 2 rue Robert Escarpit, 33607 Pessac Cedex, France.
Wolter AC; ETH Zürich, Department of Biology, Institute of Biochemistry, Hönggerbergring 64, 8093 Zürich, Switzerland.
Marquevielle J; Université de Bordeaux, Inserm U1212, CNRS UMR5320, ARNA unit, 146 rue Léo Saignat, 33076 Bordeaux Cedex, France.; Institut Européen de Chimie et Biologie, 2 rue Robert Escarpit, 33607 Pessac Cedex, France.
Morvan E; Institut Européen de Chimie et Biologie, UAR3033 CNRS, Université de Bordeaux, INSERM US01, Pessac 33600, France.
Ecoutin A; Université de Bordeaux, Inserm U1212, CNRS UMR5320, ARNA unit, 146 rue Léo Saignat, 33076 Bordeaux Cedex, France.; Institut Européen de Chimie et Biologie, 2 rue Robert Escarpit, 33607 Pessac Cedex, France.
Rüdisser SH; ETH Zürich, Department of Biology, BioNMR platform, Hönggerbergring 64, 8093 Zürich, Switzerland.
Allain FHT; ETH Zürich, Department of Biology, Institute of Biochemistry, Hönggerbergring 64, 8093 Zürich, Switzerland.
Campagne S; Université de Bordeaux, Inserm U1212, CNRS UMR5320, ARNA unit, 146 rue Léo Saignat, 33076 Bordeaux Cedex, France.; Institut Européen de Chimie et Biologie, 2 rue Robert Escarpit, 33607 Pessac Cedex, France.; ETH Zürich, Department of Biology, Institute of Biochemistry, Hönggerbergring 64, 8093 Zürich, Switzerland.; Pokaż więcej
Źródło:: Nucleic acids research [Nucleic Acids Res] 2024 May 08; Vol. 52 (8), pp. 4124-4136.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Drug Design*
RNA Splice Sites*
RNA Splicing*/drug effects
Humans ; Azo Compounds ; Models, Molecular ; Nucleic Acid Conformation ; Pyrimidines ; Survival of Motor Neuron 2 Protein/genetics ; Survival of Motor Neuron 2 Protein/metabolism

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Tytuł:: Potential of Cell-Penetrating Peptide-Conjugated Antisense Oligonucleotides for the Treatment of SMA.
Autorzy:: Leckie J; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2H7, Canada.
Yokota T; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2H7, Canada.; The Friends of Garrett Cumming Research & Muscular Dystrophy Canada HM Toupin Neurological Sciences Research, Edmonton, AB T6G 2H7, Canada.; Pokaż więcej
Źródło:: Molecules (Basel, Switzerland) [Molecules] 2024 Jun 04; Vol. 29 (11). Date of Electronic Publication: 2024 Jun 04.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Cell-Penetrating Peptides*/chemistry
Cell-Penetrating Peptides*/pharmacology
Muscular Atrophy, Spinal*/drug therapy
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/therapy
Oligonucleotides, Antisense*/therapeutic use
Oligonucleotides, Antisense*/chemistry
Oligonucleotides, Antisense*/pharmacology
Humans ; Animals ; Oligonucleotides/chemistry ; Oligonucleotides/pharmacology ; Survival of Motor Neuron 2 Protein/genetics ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism ; Blood-Brain Barrier/metabolism ; Blood-Brain Barrier/drug effects

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Skocz do pozycji: 19.

Tytuł:: Cell-mediated cytotoxicity within CSF and brain parenchyma in spinal muscular atrophy unaltered by nusinersen treatment.
Autorzy:: Lu IN; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, Germany.
Cheung PF; Spatiotemporal Tumor Heterogeneity, German Cancer Consortium (DKTK), Partner Site Essen, A Partnership Between German Cancer Research Center (DKFZ) and University Hospital Essen, Essen, Germany.; Bridge Institute of Experimental Tumor Therapy, West German Cancer Center, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Division of Solid Tumor Translational Oncology, DKTK, Partner Site Essen, A Partnership Between German Cancer Research Center (DKFZ) and University Hospital Essen, Essen, Germany.
Heming M; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, Germany.
Thomas C; Institute of Neuropathology, University Hospital Münster, Münster, Germany.
Giglio G; Spatiotemporal Tumor Heterogeneity, German Cancer Consortium (DKTK), Partner Site Essen, A Partnership Between German Cancer Research Center (DKFZ) and University Hospital Essen, Essen, Germany.; Bridge Institute of Experimental Tumor Therapy, West German Cancer Center, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Division of Solid Tumor Translational Oncology, DKTK, Partner Site Essen, A Partnership Between German Cancer Research Center (DKFZ) and University Hospital Essen, Essen, Germany.
Leo M; Department of Neurology and Center for Translational Neuro and Behavioral Science, University Hospital Essen, Essen, Germany.
Erdemir M; Department of Neurology and Center for Translational Neuro and Behavioral Science, University Hospital Essen, Essen, Germany.
Wirth T; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, Germany.
König S; Core Unit Proteomics, Interdisciplinary Center for Clinical Research, University of Münster, Münster, Germany.
Dambietz CA; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, Germany.
Schroeter CB; Department of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Nelke C; Department of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Siveke JT; Spatiotemporal Tumor Heterogeneity, German Cancer Consortium (DKTK), Partner Site Essen, A Partnership Between German Cancer Research Center (DKFZ) and University Hospital Essen, Essen, Germany.; Bridge Institute of Experimental Tumor Therapy, West German Cancer Center, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Division of Solid Tumor Translational Oncology, DKTK, Partner Site Essen, A Partnership Between German Cancer Research Center (DKFZ) and University Hospital Essen, Essen, Germany.
Ruck T; Department of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
Klotz L; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, Germany.
Haider C; Division of Neuropathology and Neurochemistry, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria.
Höftberger R; Division of Neuropathology and Neurochemistry, Medical University of Vienna, Vienna, Austria.; Comprehensive Center for Clinical Neurosciences and Mental Health, Medical University of Vienna, Vienna, Austria.
Kleinschnitz C; Department of Neurology and Center for Translational Neuro and Behavioral Science, University Hospital Essen, Essen, Germany.
Wiendl H; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, Germany.
Hagenacker T; Department of Neurology and Center for Translational Neuro and Behavioral Science, University Hospital Essen, Essen, Germany. .
Meyer Zu Horste G; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, Germany. .; Pokaż więcej
Źródło:: Nature communications [Nat Commun] 2024 May 15; Vol. 15 (1), pp. 4120. Date of Electronic Publication: 2024 May 15.
Typ publikacji:: Journal Article
MeSH Terms:: Oligonucleotides*
Muscular Atrophy, Spinal*/drug therapy
Muscular Atrophy, Spinal*/pathology
Muscular Atrophy, Spinal*/genetics
Motor Neurons*/drug effects
Motor Neurons*/pathology
Motor Neurons*/metabolism
Killer Cells, Natural*/immunology
Killer Cells, Natural*/drug effects
Brain*/pathology
Brain*/drug effects
Humans ; Female ; Male ; Survival of Motor Neuron 2 Protein/genetics ; CD8-Positive T-Lymphocytes/immunology ; CD8-Positive T-Lymphocytes/drug effects ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism ; Single-Cell Analysis ; Cytotoxicity, Immunologic/drug effects ; Infant ; Child, Preschool ; Child ; Transcriptome

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Tytuł:: Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience.
Autorzy:: Gagliardi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Canzio E; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Orsini P; Medical Genetic Unit, Department of Reproductive Pregnancy Risk, ASL BARI, Bari, Italy.
Conti P; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Sinisi V; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Maggiore C; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Santarsia MC; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Lagioia G; U.O.C. Medicina Fisica e Riabilitazione, A.O.U. Consorziale Policlinico di Bari, Bari, Italy.
Lupis G; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Roppa I; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Scianatico G; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Mancini D; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.
Corti S; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Comi GP; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.; Neurology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Gentile M; Medical Genetic Unit, Department of Reproductive Pregnancy Risk, ASL BARI, Bari, Italy.
Gagliardi D; Pediatric Neurology Unit, Pediatric Hospital 'Giovanni XXIII', Bari, Italy.; Pokaż więcej
Źródło:: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 May; Vol. 11 (5), pp. 1090-1096. Date of Electronic Publication: 2024 Apr 10.
Typ publikacji:: Journal Article
MeSH Terms:: Neonatal Screening*
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/therapy
Survival of Motor Neuron 1 Protein*/genetics
Humans ; Italy ; Infant, Newborn ; Female ; Male ; Survival of Motor Neuron 2 Protein/genetics ; Oligonucleotides/administration & dosage ; Oligonucleotides/pharmacology ; Infant

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