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Wyszukujesz frazę ""Survival of Motor Neuron 2 Protein"" wg kryterium: Temat


Tytuł:
Base editing rescue of spinal muscular atrophy in cells and in mice.
Autorzy:
Arbab M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Matuszek Z; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.; Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA.
Kray KM; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.
Du A; Horae Gene Therapy Center, UMass Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.
Newby GA; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Blatnik AJ; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.
Raguram A; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Richter MF; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Zhao KT; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Levy JM; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Shen MW; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.; Computational and Systems Biology Program, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
Arnold WD; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.; NextGen Precision Health, University of Missouri, Columbia, MO 65212, USA.
Wang D; Horae Gene Therapy Center, UMass Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.; RNA Therapeutics Institute, UMass Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.
Xie J; Horae Gene Therapy Center, UMass Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.
Gao G; Horae Gene Therapy Center, UMass Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.; Microbiology and Physiological Systems, UMass Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.
Burghes AHM; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.
Liu DR; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.; Howard Hughes Medical Institute, Harvard University, Cambridge, MA 02138, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2023 Apr 21; Vol. 380 (6642), pp. eadg6518. Date of Electronic Publication: 2023 Apr 14.
Typ publikacji:
Journal Article
MeSH Terms:
Gene Editing*
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/therapy
Survival of Motor Neuron 1 Protein*/genetics
Survival of Motor Neuron 2 Protein*/genetics
Animals ; Mice ; Fibroblasts/metabolism ; Motor Neurons/metabolism
Czasopismo naukowe
Tytuł:
Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.
Autorzy:
Dai M; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.; National Research Center for Translational Medicine, National Key Scientific Infrastructure for Translational Medicine (Shanghai), Shanghai Jiaotong University, Shanghai, China.; National Clinical Research Centre for Metabolic Diseases, State Key Laboratory of Medical Genomics, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Xu Y; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.; Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Sun Y; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Xiao B; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Ying X; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Liu Y; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Jiang W; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Zhang J; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Liu X; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Ji X; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. .; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China. .
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Źródło:
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2022 Jul; Vol. 297 (4), pp. 1039-1048. Date of Electronic Publication: 2022 May 25.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Muscular Atrophy, Spinal*/pathology
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
Alternative Splicing/genetics ; Exons/genetics ; Humans ; Introns/genetics ; Leukocytes, Mononuclear/metabolism ; Sequence Analysis, RNA/methods
Czasopismo naukowe
Tytuł:
Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts.
Autorzy:
Nadal M; Molecular Bases of Disease, Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
Anton R; Molecular Bases of Disease, Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
Dorca-Arévalo J; Molecular Bases of Disease, Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
Estébanez-Perpiñá E; Structural Biology of Nuclear Receptors, Department of Biochemistry and Molecular Biomedicine, Faculty of Biology, Institute of Biomedicine (IBUB) of the University of Barcelona (UB), Barcelona, Spain.
Tizzano EF; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain.
Fuentes-Prior P; Molecular Bases of Disease, Biomedical Research Institute Sant Pau (IIB Sant Pau), Barcelona, Spain.
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Źródło:
Protein science : a publication of the Protein Society [Protein Sci] 2023 Apr; Vol. 32 (4), pp. e4553.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Neurodegenerative Diseases*/genetics
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Humans ; Heterogeneous Nuclear Ribonucleoprotein A1/genetics ; RNA-Binding Proteins/genetics ; RNA-Binding Proteins/metabolism ; Exons/genetics ; RNA Splicing ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Adaptor Proteins, Signal Transducing/genetics ; Survival of Motor Neuron 2 Protein/genetics ; Survival of Motor Neuron 2 Protein/metabolism
Czasopismo naukowe
Tytuł:
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.
Autorzy:
Chen X; PacBio, Menlo Park, CA, USA.
Harting J; PacBio, Menlo Park, CA, USA.
Farrow E; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA.
Thiffault I; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA.
Kasperaviciute D; Genomics England Ltd., London, UK.
Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, the Netherlands.
Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Pastinen T; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.
Eberle MA; PacBio, Menlo Park, CA, USA. Electronic address: .
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Corporate Authors:
Genomics England Research Consortium
Źródło:
American journal of human genetics [Am J Hum Genet] 2023 Feb 02; Vol. 110 (2), pp. 240-250. Date of Electronic Publication: 2023 Jan 19.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/diagnosis
Infant ; Humans ; Mutation ; Gene Dosage ; Pedigree ; Sequence Analysis ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 2 Protein/genetics
Czasopismo naukowe
Tytuł:
Identification of SRSF10 as a regulator of SMN2 ISS-N1.
Autorzy:
Frederiksen SB; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Holm LL; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Larsen MR; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Doktor TK; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Andersen HS; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
Hastings ML; Department of Cell Biology and Anatomy, Center for Genetic Diseases, Chicago Medical School and School of Graduate and Postdoctoral Studies, Rosalind Franklin University of Medicine and Science, North Chicago, Illinois, USA.
Hua Y; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA.
Krainer AR; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA.
Andresen BS; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.
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Źródło:
Human mutation [Hum Mutat] 2021 Mar; Vol. 42 (3), pp. 246-260. Date of Electronic Publication: 2020 Dec 16.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Cell Cycle Proteins*/genetics
Cell Cycle Proteins*/metabolism
Muscular Atrophy, Spinal*/genetics
Repressor Proteins*/genetics
Repressor Proteins*/metabolism
Serine-Arginine Splicing Factors*/genetics
Serine-Arginine Splicing Factors*/metabolism
Survival of Motor Neuron 2 Protein*/genetics
Survival of Motor Neuron 2 Protein*/metabolism
Exons ; Humans ; Oligonucleotides, Antisense ; RNA Splicing ; Tandem Mass Spectrometry
Czasopismo naukowe
Tytuł:
U2AF65-Dependent SF3B1 Function in SMN Alternative Splicing.
Autorzy:
Choi N; School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju 500-712, Korea.
Liu Y; School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju 500-712, Korea.
Oh J; School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju 500-712, Korea.
Ha J; School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju 500-712, Korea.
Zheng X; School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju 500-712, Korea.
Shen H; School of Life Sciences, Gwangju Institute of Science and Technology, Gwangju 500-712, Korea.
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Źródło:
Cells [Cells] 2020 Dec 09; Vol. 9 (12). Date of Electronic Publication: 2020 Dec 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Alternative Splicing*
Phosphoproteins/*metabolism
RNA Splicing Factors/*metabolism
Splicing Factor U2AF/*metabolism
Survival of Motor Neuron 1 Protein/*genetics
Survival of Motor Neuron 2 Protein/*genetics
Cell Line ; Exons ; Humans ; Muscular Atrophy, Spinal/metabolism ; Muscular Atrophy, Spinal/pathology ; Phosphoproteins/antagonists & inhibitors ; Phosphoproteins/genetics ; Polypyrimidine Tract-Binding Protein/genetics ; Polypyrimidine Tract-Binding Protein/metabolism ; Protein Binding ; RNA Interference ; RNA Precursors/genetics ; RNA Precursors/metabolism ; RNA Splicing Factors/antagonists & inhibitors ; RNA Splicing Factors/genetics ; RNA, Small Interfering/metabolism ; Splicing Factor U2AF/chemistry ; Survival of Motor Neuron 1 Protein/metabolism ; Survival of Motor Neuron 2 Protein/metabolism
Czasopismo naukowe
Tytuł:
Neuromuscular denervation and deafferentation but not motor neuron death are disease features in the Smn2B/- mouse model of SMA.
Autorzy:
Carlini MJ; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, United States of America.; Department of Neurology, Columbia University, New York, NY, United States of America.
Triplett MK; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, United States of America.; Department of Neurology, Columbia University, New York, NY, United States of America.
Pellizzoni L; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, United States of America.; Department of Neurology, Columbia University, New York, NY, United States of America.; Department of Pathology and Cell Biology, Columbia University, New York, NY, United States of America.
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Źródło:
PloS one [PLoS One] 2022 Aug 01; Vol. 17 (8), pp. e0267990. Date of Electronic Publication: 2022 Aug 01 (Print Publication: 2022).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Muscular Atrophy, Spinal*/pathology
Neurodegenerative Diseases*/pathology
Animals ; Cell Death ; Denervation ; Disease Models, Animal ; Mice ; Mice, Inbred Strains ; Motor Neurons/metabolism ; Survival of Motor Neuron 2 Protein
Czasopismo naukowe
Tytuł:
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Autorzy:
Blasco-Pérez L; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
Costa-Roger M; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
Leno-Colorado J; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
Bernal S; Genetics Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
Alias L; Genetics Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
Codina-Solà M; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
Martínez-Cruz D; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
Castiglioni C; Departamento de Neurología Pediátrica, Clínica Las Condes, 7591047 Santiago de Chile, Chile.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesu, IRCCS, 00165 Rome, Italy.
Travaglini L; Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesu, IRCCS, 00165 Rome, Italy.
Millán JM; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.; Unidad de Genética, Hospital La Fe and IIS La Fe, 46026 Valencia, Spain.
Aller E; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.; Unidad de Genética, Hospital La Fe and IIS La Fe, 46026 Valencia, Spain.
Sotoca J; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.
Juntas R; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.
Hoei-Hansen CE; Department of Paediatrics, Copenhagen University Hospital, 2100 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, 1165 Copenhagen, Denmark.
Moreno-Escribano A; Neurology Service and Medical Genetics Section, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Universidad de Murcia, 30120,Murcia, Spain.
Guillén-Navarro E; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.; Neurology Service and Medical Genetics Section, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Universidad de Murcia, 30120,Murcia, Spain.
Costa-Comellas L; Pediatric Neurology Section, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
Munell F; Pediatric Neurology Section, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
Boronat S; Pediatrics Department, Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Spain.
Rojas-García R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.; MND Clinic, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, 08025 Barcelona, Spain.
Povedano M; Unidad Funcional de Enfermedad de Motoneurona, Servicio de Neurología, Hospital Universitario de Bellvitge, 08907 Barcelona, Spain.
Cuscó I; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
Tizzano EF; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Jul 27; Vol. 23 (15). Date of Electronic Publication: 2022 Jul 27.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/genetics
Genetic Association Studies ; Homozygote ; Humans ; Introns ; Mutation ; Phenotype ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 2 Protein/genetics
Czasopismo naukowe
Tytuł:
Simultaneous quantification of SMN1 and SMN2 copy numbers by MALDI-TOF mass spectrometry for spinal muscular atrophy genetic testing.
Autorzy:
Jin W; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Yang Z; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Tang X; Molecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
Wang X; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Huang Y; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Hui C; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Yao J; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Luan J; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China; InnoMed Diagnostics Inc, Wenzhou, China.
Tang S; Key Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Wu S; Molecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China. Electronic address: .
Jin S; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China. Electronic address: .
Ding C; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China. Electronic address: .
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Źródło:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2022 Jul 01; Vol. 532, pp. 45-52. Date of Electronic Publication: 2022 May 26.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Gene Dosage ; Genetic Testing ; Homozygote ; Humans ; Motor Neurons ; Sequence Deletion ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 2 Protein/genetics
Czasopismo naukowe
Tytuł:
High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts.
Autorzy:
Wijaya YOS; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan.; Department of Biochemistry, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Jalan Farmako, Yogyakarta 55281, Indonesia.
Niba ETE; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan.
Nishio H; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan.; Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Hyogo, Japan.
Okamoto K; Department of Pediatrics, Ehime Prefectural Imabari Hospital, 4-5-5 Ishii-cho, Imabari, 794-0006, Ehime, Japan.
Awano H; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan.
Saito T; Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, 5-1-1 Toneyama, Toyonaka 560-8552, Osaka, Japan.
Takeshima Y; Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya 663-8501, Hyogo, Japan.
Shinohara M; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan.
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Źródło:
Genes [Genes (Basel)] 2022 Apr 13; Vol. 13 (4). Date of Electronic Publication: 2022 Apr 13.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/drug therapy
Muscular Atrophy, Spinal*/genetics
Oligonucleotides, Antisense*/genetics
Oligonucleotides, Antisense*/therapeutic use
Fibroblasts/metabolism ; Humans ; Motor Neurons/metabolism ; RNA Splice Sites ; RNA Splicing ; Survival of Motor Neuron 2 Protein/genetics ; Survival of Motor Neuron 2 Protein/metabolism
Czasopismo naukowe
Tytuł:
Antisense Oligonucleotide Induction of the hnRNPA1b Isoform Affects Pre-mRNA Splicing of SMN2 in SMA Type I Fibroblasts.
Autorzy:
Toosaranont J; Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Ruschadaariyachat S; Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Mujchariyakul W; Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok 10700, Thailand.
Arora JK; Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok 10700, Thailand.
Charoensawan V; Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok 10700, Thailand.; Integrative Computational BioScience (ICBS) Center, Mahidol University, Nakhon Pathom 73170, Thailand.; Systems Biology of Diseases Research Unit, Faculty of Science, Mahidol University, Bangkok 10400, Thailand.
Suktitipat B; Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.; Integrative Computational BioScience (ICBS) Center, Mahidol University, Nakhon Pathom 73170, Thailand.
Palmer TN; Perron Institute for Neurological and Translational Science, The University of Western Australia, Perth, WA 6009, Australia.
Fletcher S; Perron Institute for Neurological and Translational Science, The University of Western Australia, Perth, WA 6009, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, WA 6150, Australia.
Wilton SD; Perron Institute for Neurological and Translational Science, The University of Western Australia, Perth, WA 6009, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, WA 6150, Australia.
Mitrpant C; Department of Biochemistry, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.; Perron Institute for Neurological and Translational Science, The University of Western Australia, Perth, WA 6009, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, WA 6150, Australia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Apr 01; Vol. 23 (7). Date of Electronic Publication: 2022 Apr 01.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/metabolism
Spinal Muscular Atrophies of Childhood*
Fibroblasts/metabolism ; Humans ; Oligonucleotides/pharmacology ; Oligonucleotides, Antisense/genetics ; Oligonucleotides, Antisense/metabolism ; Oligonucleotides, Antisense/pharmacology ; Protein Isoforms/metabolism ; RNA Precursors/genetics ; RNA Precursors/metabolism ; RNA Splicing ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 2 Protein/genetics ; Survival of Motor Neuron 2 Protein/metabolism
Czasopismo naukowe
Tytuł:
The Biochemistry of Survival Motor Neuron Protein Is Paving the Way to Novel Therapies for Spinal Muscle Atrophy.
Autorzy:
Lomonte P; Université de Lyon, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U 1217, Institut NeuroMyoGène (INMG), 69008 Lyon, France.
Baklouti F; Université de Lyon, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U 1217, Institut NeuroMyoGène (INMG), 69008 Lyon, France.
Binda O; Université de Lyon, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U 1217, Institut NeuroMyoGène (INMG), 69008 Lyon, France.
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Źródło:
Biochemistry [Biochemistry] 2020 Apr 14; Vol. 59 (14), pp. 1391-1397. Date of Electronic Publication: 2020 Apr 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Motor Neurons/*metabolism
Muscular Atrophy, Spinal/*metabolism
Survival of Motor Neuron 1 Protein/*metabolism
Survival of Motor Neuron 2 Protein/*metabolism
Animals ; Humans ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/therapy ; Mutation/radiation effects ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 2 Protein/genetics
Czasopismo naukowe
Tytuł:
Combined treatment with the histone deacetylase inhibitor LBH589 and a splice-switch antisense oligonucleotide enhances SMN2 splicing and SMN expression in Spinal Muscular Atrophy cells.
Autorzy:
Pagliarini V; Department of Neuroscience, Section of Human Anatomy, Catholic University of the Sacred Heart, Rome, Italy.; IRCCS Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.
Guerra M; Department of Neuroscience, Section of Human Anatomy, Catholic University of the Sacred Heart, Rome, Italy.; Laboratory of Neuroembryology, IRCCS Fondazione Santa Lucia, Rome, Italy.
Di Rosa V; Department of Neuroscience, Section of Human Anatomy, Catholic University of the Sacred Heart, Rome, Italy.; Laboratory of Neuroembryology, IRCCS Fondazione Santa Lucia, Rome, Italy.
Compagnucci C; Laboratory of Neuroembryology, IRCCS Fondazione Santa Lucia, Rome, Italy.
Sette C; Department of Neuroscience, Section of Human Anatomy, Catholic University of the Sacred Heart, Rome, Italy.; Laboratory of Neuroembryology, IRCCS Fondazione Santa Lucia, Rome, Italy.
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Źródło:
Journal of neurochemistry [J Neurochem] 2020 Apr; Vol. 153 (2), pp. 264-275. Date of Electronic Publication: 2020 Jan 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Oligonucleotides/*pharmacology
Panobinostat/*pharmacology
RNA Splicing/*drug effects
Survival of Motor Neuron 2 Protein/*biosynthesis
Animals ; Drug Therapy, Combination ; Female ; Fibroblasts/drug effects ; Histone Deacetylase Inhibitors/pharmacology ; Humans ; Male ; Mice ; Neural Stem Cells/drug effects ; Oligonucleotides, Antisense/pharmacology ; RNA Splicing/genetics ; Survival of Motor Neuron 2 Protein/genetics
Czasopismo naukowe
Tytuł:
Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA.
Autorzy:
Arikan Y; Bozok University School of Medicine, Department of Medical Genetics, Yozgat, Turkey; Radboud University Medical Centre, Department of Human Genetics, Nijmegen, Netherland. Electronic address: .
Berker Karauzum S; Akdeniz University School of Medicine, Department of Medical Biology, Antalya, Turkey; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey. Electronic address: .
Uysal H; Akdeniz University School of Medicine, Department of Neurology, Antalya, Turkey. Electronic address: .
Mihci E; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey; Akdeniz University School of Medicine, Department of Pediatry, Antalya, Turkey. Electronic address: .
Nur B; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey; Akdeniz University School of Medicine, Department of Pediatry, Antalya, Turkey. Electronic address: .
Duman O; Akdeniz University School of Medicine, Department of Neurology, Antalya, Turkey. Electronic address: .
Haspolat S; Akdeniz University School of Medicine, Department of Pediatry, Antalya, Turkey. Electronic address: .
Altiok Clark O; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey. Electronic address: .
Toylu A; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey. Electronic address: .
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Źródło:
Gene [Gene] 2022 May 20; Vol. 823, pp. 146322. Date of Electronic Publication: 2022 Feb 25.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*
Sequence Deletion*
Muscular Atrophy, Spinal/*genetics
Survival of Motor Neuron 1 Protein/*genetics
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Consanguinity ; Exons ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Mutation Rate ; Survival of Motor Neuron 2 Protein/genetics ; Young Adult
Czasopismo naukowe
Tytuł:
Identification of specific gene methylation patterns during motor neuron differentiation from spinal muscular atrophy patient-derived iPSC.
Autorzy:
Maretina MA; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint-Petersburg, Russia.
Valetdinova KR; The Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novsibirsk, Russia.
Tsyganova NA; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint-Petersburg, Russia.
Egorova AA; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint-Petersburg, Russia.
Ovechkina VS; The Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novsibirsk, Russia; Novosibirsk State University, 630090 Novosibirsk, Russia.
Schiöth HB; Department of Neuroscience, Functional Pharmacology, Uppsala University, S-75124 Uppsala, Sweden; Sechenov First Moscow State Medical University, 119991 Moscow, Russia.
Zakian SM; The Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novsibirsk, Russia; Meshalkin National Medical Research Center, Ministry of Healthcare of the Russian Federation, 630055 Novosibirsk, Russia.
Baranov VS; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint-Petersburg, Russia.
Kiselev AV; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint-Petersburg, Russia. Electronic address: .
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Źródło:
Gene [Gene] 2022 Feb 15; Vol. 811, pp. 146109. Date of Electronic Publication: 2021 Dec 03.
Typ publikacji:
Journal Article
MeSH Terms:
Induced Pluripotent Stem Cells/*physiology
Motor Neurons/*physiology
Muscular Atrophy, Spinal/*genetics
Cell Differentiation ; Cells, Cultured ; DNA Methylation ; GTPase-Activating Proteins/genetics ; GTPase-Activating Proteins/metabolism ; Gene Expression Regulation, Developmental ; Humans ; Neurogenesis ; PAX6 Transcription Factor/genetics ; PAX6 Transcription Factor/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
Czasopismo naukowe
Tytuł:
Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA.
Autorzy:
Dominguez CE; Molecular, Cellular and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA.; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.
Cunningham D; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.
Venkataramany AS; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.; Biomedical Sciences Graduate Program, The Ohio State University, Columbus, OH, USA.; Medical Scientist Training Program, The Ohio State University, Columbus, OH, USA.
Chandler DS; Molecular, Cellular and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA. .; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA. .; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA. .
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Źródło:
Human genetics [Hum Genet] 2022 Feb; Vol. 141 (2), pp. 239-256. Date of Electronic Publication: 2022 Jan 28.
Typ publikacji:
Journal Article
MeSH Terms:
Hot Temperature*/therapeutic use
RNA Splicing*/genetics
Muscular Atrophy, Spinal/*genetics
Muscular Atrophy, Spinal/*therapy
Animals ; Binding Sites/genetics ; Cell Line ; Disease Models, Animal ; Exons ; Heat-Shock Response/genetics ; Humans ; In Vitro Techniques ; MCF-7 Cells ; Mice ; Muscular Atrophy, Spinal/metabolism ; Nerve Tissue Proteins/metabolism ; Oligonucleotides, Antisense/genetics ; Oligonucleotides, Antisense/therapeutic use ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Serine-Arginine Splicing Factors/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
Czasopismo naukowe
Tytuł:
Systematic characterization of short intronic splicing-regulatory elements in SMN2 pre-mRNA.
Autorzy:
Gao Y; Department of Neurology and Suzhou Clinical Research Center of Neurological Disease, The Second Affiliated Hospital of Soochow University, Suzhou 215004, China.; Institute of Neuroscience, Soochow University, 199 Renai Road, Suzhou, Jiangsu 215123, China.
Lin KT; Cold Spring Harbor Laboratory, PO Box 100, Cold Spring Harbor, NY 11724, USA.
Jiang T; Institute of Neuroscience, Soochow University, 199 Renai Road, Suzhou, Jiangsu 215123, China.
Yang Y; Department of Neurology and Suzhou Clinical Research Center of Neurological Disease, The Second Affiliated Hospital of Soochow University, Suzhou 215004, China.; Institute of Neuroscience, Soochow University, 199 Renai Road, Suzhou, Jiangsu 215123, China.
Rahman MA; Cold Spring Harbor Laboratory, PO Box 100, Cold Spring Harbor, NY 11724, USA.
Gong S; Jiangsu Key Laboratory for Molecular and Medical Biotechnology, College of Life Sciences, Nanjing Normal University, Nanjing 210023, China.
Bai J; Jiangsu Key Laboratory for Molecular and Medical Biotechnology, College of Life Sciences, Nanjing Normal University, Nanjing 210023, China.
Wang L; Jiangsu Key Laboratory for Molecular and Medical Biotechnology, College of Life Sciences, Nanjing Normal University, Nanjing 210023, China.
Sun J; Institute of Neuroscience, Soochow University, 199 Renai Road, Suzhou, Jiangsu 215123, China.
Sheng L; Department of Neurology and Suzhou Clinical Research Center of Neurological Disease, The Second Affiliated Hospital of Soochow University, Suzhou 215004, China.; Institute of Neuroscience, Soochow University, 199 Renai Road, Suzhou, Jiangsu 215123, China.
Krainer AR; Cold Spring Harbor Laboratory, PO Box 100, Cold Spring Harbor, NY 11724, USA.
Hua Y; Jiangsu Key Laboratory for Molecular and Medical Biotechnology, College of Life Sciences, Nanjing Normal University, Nanjing 210023, China.
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Źródło:
Nucleic acids research [Nucleic Acids Res] 2022 Jan 25; Vol. 50 (2), pp. 731-749.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Introns*
RNA Splicing*
Regulatory Sequences, Ribonucleic Acid*
RNA Precursors/*genetics
Alternative Splicing ; Base Composition ; Base Sequence ; Computational Biology/methods ; Exons ; Gene Library ; HEK293 Cells ; Humans ; Nucleotide Motifs ; Position-Specific Scoring Matrices ; RNA Splice Sites ; Sequence Analysis, RNA ; Survival of Motor Neuron 2 Protein/genetics
Czasopismo naukowe
Tytuł:
Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene.
Autorzy:
Zhao S; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Central Avenue 55, Airport Business Park East Building E3, Tianjin, 300308, China.
Wang Y; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Central Avenue 55, Airport Business Park East Building E3, Tianjin, 300308, China.
Xin X; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Central Avenue 55, Airport Business Park East Building E3, Tianjin, 300308, China.
Fang Z; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Central Avenue 55, Airport Business Park East Building E3, Tianjin, 300308, China.
Fan L; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Central Avenue 55, Airport Business Park East Building E3, Tianjin, 300308, China.
Peng Z; BGI Genomics, BGI-Shenzhen, Bei Shan Industrial Zone, Yantian District, Shenzhen, 518083, Guangdong, China.
Han R; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Central Avenue 55, Airport Business Park East Building E3, Tianjin, 300308, China.
Shi C; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Central Avenue 55, Airport Business Park East Building E3, Tianjin, 300308, China.
Zhang Y; Ashbury College, 362 Mariposa Avenue, Rockcliffe Park, ON, Canada.
Fan C; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Central Avenue 55, Airport Business Park East Building E3, Tianjin, 300308, China.
Sun J; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Central Avenue 55, Airport Business Park East Building E3, Tianjin, 300308, China. .
He X; Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China. .
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Źródło:
Scientific reports [Sci Rep] 2022 Jan 07; Vol. 12 (1), pp. 223. Date of Electronic Publication: 2022 Jan 07.
Typ publikacji:
Evaluation Study; Journal Article
MeSH Terms:
Exons*
Sequence Deletion*
High-Throughput Nucleotide Sequencing/*methods
Muscular Atrophy, Spinal/*genetics
Survival of Motor Neuron 1 Protein/*genetics
Gene Dosage ; Humans ; Real-Time Polymerase Chain Reaction ; Survival of Motor Neuron 2 Protein/genetics
Czasopismo naukowe
Tytuł:
Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs.
Autorzy:
Poirier A; Roche Pharma Research and Early Development Roche Innovation Center Basel Switzerland.
Weetall M; PTC Therapeutics South Plainfield New Jersey.
Heinig K; Roche Pharma Research and Early Development Roche Innovation Center Basel Switzerland.
Bucheli F; Roche Pharma Research and Early Development Roche Innovation Center Basel Switzerland.
Schoenlein K; Roche Pharma Research and Early Development Roche Innovation Center Basel Switzerland.
Alsenz J; Roche Pharma Research and Early Development Roche Innovation Center Basel Switzerland.
Bassett S; Roche Pharma Research and Early Development Roche Innovation Center Basel Switzerland.
Ullah M; Roche Pharma Research and Early Development Roche Innovation Center Basel Switzerland.
Senn C; Roche Pharma Research and Early Development Roche Innovation Center Basel Switzerland.
Ratni H; Roche Pharma Research and Early Development Roche Innovation Center Basel Switzerland.
Naryshkin N; PTC Therapeutics South Plainfield New Jersey.
Paushkin S; SMA Foundation New York New York.
Mueller L; Roche Pharma Research and Early Development Roche Innovation Center Basel Switzerland.
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Źródło:
Pharmacology research & perspectives [Pharmacol Res Perspect] 2018 Nov 29; Vol. 6 (6), pp. e00447. Date of Electronic Publication: 2018 Nov 29 (Print Publication: 2018).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Azo Compounds/*pharmacokinetics
Muscular Atrophy, Spinal/*drug therapy
Neuromuscular Agents/*pharmacokinetics
Pyrimidines/*pharmacokinetics
RNA Splicing/*drug effects
Survival of Motor Neuron 2 Protein/*metabolism
Animals ; Azo Compounds/cerebrospinal fluid ; Azo Compounds/pharmacology ; Azo Compounds/therapeutic use ; Brain/metabolism ; Brain/pathology ; Clinical Trials as Topic ; Disease Models, Animal ; Dogs ; Drug Evaluation, Preclinical ; Exons/drug effects ; Exons/genetics ; Female ; Humans ; Macaca fascicularis ; Madin Darby Canine Kidney Cells ; Male ; Mice ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/pathology ; Neuromuscular Agents/cerebrospinal fluid ; Neuromuscular Agents/pharmacology ; Neuromuscular Agents/therapeutic use ; Pyrimidines/cerebrospinal fluid ; Pyrimidines/pharmacology ; Pyrimidines/therapeutic use ; Rats ; Rats, Wistar ; Survival of Motor Neuron 1 Protein/metabolism ; Survival of Motor Neuron 2 Protein/genetics ; Swine ; Tissue Distribution
Czasopismo naukowe
Tytuł:
Organotypic spinal cord cultures: An in vitro 3D model to preliminary screen treatments for spinal muscular atrophy.
Autorzy:
Boido M; Neuroscience Institute Cavalieri Ottolenghi, Department of Neuroscience 'Rita Levi Montalcini', University of Turin. .
De Amicis E; Neuroscience Institute Cavalieri Ottolenghi, Department of Neuroscience 'Rita Levi Montalcini', University of Turin. .
Mareschi K; Department of Public Health and Paediatrics, University of Turin; Stem Cell Transplantation and Cellular Therapy Laboratory, Paediatric Onco-Haematology Division, Regina Margherita Children's Hospital, City of Health and Science of Turin. .
Fagioli F; Department of Public Health and Paediatrics, University of Turin; Stem Cell Transplantation and Cellular Therapy Laboratory, Paediatric Onco-Haematology Division, Regina Margherita Children's Hospital, City of Health and Science of Turin. .
Vercelli A; Neuroscience Institute Cavalieri Ottolenghi, Department of Neuroscience 'Rita Levi Montalcini', University of Turin. .
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Źródło:
European journal of histochemistry : EJH [Eur J Histochem] 2021 Nov 04; Vol. 65 (s1). Date of Electronic Publication: 2021 Nov 04.
Typ publikacji:
Journal Article
MeSH Terms:
Disease Models, Animal*
Culture Media, Conditioned/*pharmacology
Muscular Atrophy, Spinal/*drug therapy
Spinal Cord/*drug effects
Animals ; Animals, Genetically Modified ; Cell Culture Techniques ; Cell Line ; Humans ; Mesenchymal Stem Cells/metabolism ; Mice ; Muscular Atrophy, Spinal/physiopathology ; Proof of Concept Study ; Spinal Cord/metabolism ; Survival of Motor Neuron 2 Protein/genetics
Czasopismo naukowe

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