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


Tytuł :
Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model.
Autorzy :
Wang J; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
Bai J; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
OuYang S; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
Wang H; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
Jin Y; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
Peng X; Department of Neurology, Children's Hospital Capital Institute of Pediatrics, Beijing 100020, P.R. China.
Ge X; Department of Neurology, Children's Hospital Capital Institute of Pediatrics, Beijing 100020, P.R. China.
Jiao H; Department of Neurology, Children's Hospital Capital Institute of Pediatrics, Beijing 100020, P.R. China.
Zou J; Department of pathology, Capital Institute of Pediatrics, Beijing 100020, P.R. China.
He C; Department of pathology, Capital Institute of Pediatrics, Beijing 100020, P.R. China.
Xiao P; Department of pathology, Capital Institute of Pediatrics, Beijing 100020, P.R. China.
Song F; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
Qu Y; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2022 May 19; Vol. 31 (10), pp. 1635-1650.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Atrophy, Spinal*/metabolism
Oligonucleotides, Antisense*/genetics
Animals ; Cell Line ; Disease Models, Animal ; Humans ; Mice ; Motor Neurons/metabolism ; Promoter Regions, Genetic/genetics ; 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 :
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 :
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 :
Risdiplam: an investigational survival motor neuron 2 (SMN2) splicing modifier for spinal muscular atrophy (SMA).
Autorzy :
Markati T; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Fisher G; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Ramdas S; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Servais L; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège & University of Liège, Liege, Belgium.
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Źródło :
Expert opinion on investigational drugs [Expert Opin Investig Drugs] 2022 May; Vol. 31 (5), pp. 451-461. Date of Electronic Publication: 2022 Apr 11.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Muscular Atrophy, Spinal*/drug therapy
Muscular Atrophy, Spinal*/genetics
Azo Compounds/adverse effects ; Humans ; Infant, Newborn ; Motor Neurons ; Pyrimidines ; RNA Splicing ; Rare Diseases/drug therapy ; 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 :
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 :
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 :
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 :
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 :
Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?
Autorzy :
Schwartz O; Münster University Hospital, Department of Pediatric Neurology, Münster, Germany.
Kölbel H; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany.
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, Munich, Germany.
Gläser D; Genetikum®, Center for Human Genetics, Neu-Ulm, Germany.
Burggraf S; Labor Becker und Kollegen, Munich, Germany.
Röschinger W; Labor Becker und Kollegen, Munich, Germany.
Schara U; Department of Pediatric Neurology, Developmental Neurology and Social Pediatrics, University of Essen, Essen, Germany.
Müller-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, Munich, Germany.
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, Munich, Germany.
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Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2022; Vol. 9 (3), pp. 389-396.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/therapy
Neonatal Screening*
Germany ; Humans ; Infant, Newborn ; Motor Neurons ; Phenotype ; Survival of Motor Neuron 2 Protein/genetics
Czasopismo naukowe
Tytuł :
Addressing Today's Absorption, Distribution, Metabolism, and Excretion (ADME) Challenges in the Translation of In Vitro ADME Characteristics to Humans: A Case Study of the SMN2 mRNA Splicing Modifier Risdiplam.
Autorzy :
Fowler S; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Brink A; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Cleary Y; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Günther A; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Heinig K; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Husser C; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Kletzl H; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Kratochwil N; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Mueller L; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Savage M; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Stillhart C; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Tuerck D; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Ullah M; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Umehara K; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.).
Poirier A; Pharmaceutical Sciences, Roche Pharma Research and Early Development, Roche Innovation Center Basel (S.F., A.B., Y.C., A.G., K.H., C.H., H.K, N.K., L.M., D.T., M.U., K.U., A.P.) and Formulation & Process Sciences, Pharmaceutical Research and Development (C.S.), F. Hoffmann-La Roche Ltd., Basel, Switzerland; and Unilabs York Bioanalytical Solutions, Sandwich, United Kingdom (M.S.) .
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Źródło :
Drug metabolism and disposition: the biological fate of chemicals [Drug Metab Dispos] 2022 Jan; Vol. 50 (1), pp. 65-75. Date of Electronic Publication: 2021 Oct 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Tissue Distribution*
Azo Compounds/*metabolism
Azo Compounds/*pharmacokinetics
Pharmaceutical Preparations/*metabolism
Pyrimidines/*metabolism
Pyrimidines/*pharmacokinetics
RNA Splicing/*drug effects
RNA, Messenger/*metabolism
Animals ; Humans ; In Vitro Techniques ; Survival of Motor Neuron 2 Protein/metabolism
Czasopismo naukowe
Tytuł :
SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.
Autorzy :
Zhao X; PTC Therapeutics, Inc., South Plainfield, NJ, 07080, USA.
Feng Z; Section of Neurobiology, Department of Biological Sciences, University of Southern California, Los Angeles, CA, 90089, USA.
Risher N; PTC Therapeutics, Inc., South Plainfield, NJ, 07080, USA.
Mollin A; PTC Therapeutics, Inc., South Plainfield, NJ, 07080, USA.
Sheedy J; PTC Therapeutics, Inc., South Plainfield, NJ, 07080, USA.
Ling KKY; Section of Neurobiology, Department of Biological Sciences, University of Southern California, Los Angeles, CA, 90089, USA.
Narasimhan J; PTC Therapeutics, Inc., South Plainfield, NJ, 07080, USA.
Dakka A; PTC Therapeutics, Inc., South Plainfield, NJ, 07080, USA.
Baird JD; PTC Therapeutics, Inc., South Plainfield, NJ, 07080, USA.
Ratni H; F. Hoffmann-La Roche, Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Basel 4070, Switzerland.
Lutz C; The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609.
Chen KS; SMA Foundation, PO Box 9214, Jackson, WY 83002.
Naryshkin NA; PTC Therapeutics, Inc., South Plainfield, NJ, 07080, USA.
Ko CP; Section of Neurobiology, Department of Biological Sciences, University of Southern California, Los Angeles, CA, 90089, USA.
Welch E; PTC Therapeutics, Inc., South Plainfield, NJ, 07080, USA.
Metzger F; F. Hoffmann-La Roche, Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Basel 4070, Switzerland.
Weetall M; PTC Therapeutics, Inc., South Plainfield, NJ, 07080, USA.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2021 Dec 17; Vol. 31 (1), pp. 82-96.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Atrophy, Spinal*/metabolism
Alternative Splicing ; Animals ; Disease Models, Animal ; Disease Progression ; Exons ; Female ; Humans ; Male ; Mice ; RNA Splicing ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism ; Survival of Motor Neuron 2 Protein
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
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 :
What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.
Autorzy :
Blatnik AJ 3rd; Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Rightmire Hall, Room 168, 1060 Carmack Road, Columbus, OH 43210, USA.
McGovern VL; Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Rightmire Hall, Room 168, 1060 Carmack Road, Columbus, OH 43210, USA.
Burghes AHM; Department of Biological Chemistry & Pharmacology, The Ohio State University Wexner Medical Center, Rightmire Hall, Room 168, 1060 Carmack Road, Columbus, OH 43210, USA.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Aug 06; Vol. 22 (16). Date of Electronic Publication: 2021 Aug 06.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Atrophy, Spinal/*genetics
Animals ; Humans ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Muscular Atrophy, Spinal/metabolism ; Muscular Atrophy, Spinal/pathology ; Mutation ; Signal Transduction ; 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 :
ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy.
Autorzy :
Kannan A; Center of Emphasis in Neurosciences, Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.; Department of Molecular and Translational Medicine, Paul L. Foster School of Medicine, Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.
Jiang X; Center of Emphasis in Neurosciences, Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.; Department of Molecular and Translational Medicine, Paul L. Foster School of Medicine, Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.
He L; Center of Emphasis in Neurosciences, Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.; Department of Molecular and Translational Medicine, Paul L. Foster School of Medicine, Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.
Ahmad S; Center of Emphasis in Neurosciences, Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.; Department of Molecular and Translational Medicine, Paul L. Foster School of Medicine, Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.
Gangwani L; Center of Emphasis in Neurosciences, Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.; Department of Molecular and Translational Medicine, Paul L. Foster School of Medicine, Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.; Graduate School of Biomedical Sciences, Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.
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Źródło :
Brain : a journal of neurology [Brain] 2020 Jan 01; Vol. 143 (1), pp. 69-93.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Damage*
R-Loop Structures*
Fibroblasts/*metabolism
Intracellular Signaling Peptides and Proteins/*genetics
Membrane Transport Proteins/*genetics
Spinal Muscular Atrophies of Childhood/*genetics
Survival of Motor Neuron 1 Protein/*genetics
Survival of Motor Neuron 2 Protein/*genetics
Animals ; DNA Helicases/metabolism ; Disease Models, Animal ; Female ; HeLa Cells ; Humans ; Immunohistochemistry ; In Vitro Techniques ; Male ; Mice ; Mice, Transgenic ; Motor Neurons/metabolism ; Multifunctional Enzymes/metabolism ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Primary Cell Culture ; RNA Helicases/metabolism ; RNA Polymerase II/metabolism ; Severity of Illness Index ; Spinal Cord/metabolism ; Spinal Cord/pathology ; Spinal Muscular Atrophies of Childhood/metabolism ; Spinal Muscular Atrophies of Childhood/pathology ; Spinal Muscular Atrophies of Childhood/physiopathology ; Survival of Motor Neuron 2 Protein/metabolism ; Up-Regulation
Czasopismo naukowe
Tytuł :
Orally administered branaplam does not impact neurogenesis in juvenile mice, rats, and dogs.
Autorzy :
Theil D; Translation medicine/preclinical safety, Novartis Institutes for Biomedical Research, Basel 4058, Switzerland.
Valdez R; Neuroscience/rare diseases, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA.
Darribat K; Translation medicine/preclinical safety, Novartis Institutes for Biomedical Research, Basel 4058, Switzerland.
Doelemeyer A; Translation medicine/preclinical safety, Novartis Institutes for Biomedical Research, Basel 4058, Switzerland.
Sivasankaran R; Neuroscience/rare diseases, Novartis Institutes for Biomedical Research, Cambridge, MA 02139, USA.
Hartmann A; Translation medicine/preclinical safety, Novartis Institutes for Biomedical Research, Basel 4058, Switzerland.
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Źródło :
Biology open [Biol Open] 2021 Oct 15; Vol. 10 (10). Date of Electronic Publication: 2021 Oct 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Neurogenesis/*drug effects
Pyridazines/*pharmacology
Administration, Oral ; Animals ; Apoptosis/drug effects ; Brain/drug effects ; Cell Proliferation/drug effects ; Cerebellum/drug effects ; Disease Models, Animal ; Dogs ; Drug Evaluation, Preclinical ; Mice ; Neurons/drug effects ; RNA Splicing/drug effects ; Rats ; Rats, Wistar ; Survival of Motor Neuron 2 Protein/drug effects
Czasopismo naukowe

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