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A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
Bolduc, Véronique; Foley, A Reghan; Solomon-Degefa, Herimela; Sarathy, Apurva; Donkervoort, Sandra; Hu, Ying; Chen, Grace S; Sizov, Katherine; Nalls, Matthew; Zhou, Haiyan; Aguti, Sara; Cummings, Beryl B; Lek, Monkol; Tukiainen, Taru; Marshall, Jamie L; Regev, Oded; Marek-Yagel, Dina; Sarkozy, Anna; Butterfield, Russell J; Jou, Cristina; Jimenez-Mallebrera, Cecilia; Li, Yan; Gartioux, Corine; Mamchaoui, Kamel; Allamand, Valérie; Gualandi, Francesca; Ferlini, Alessandra; Hanssen, Eric; Wilton, Steve D; Lamandé, Shireen R; MacArthur, Daniel G; Wagener, Raimund; Muntoni, Francesco; Bönnemann, Carsten G.
Afiliação
  • Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Solomon-Degefa H; Center for Biochemistry, Faculty of Medicine and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  • Sarathy A; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Chen GS; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Sizov K; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Nalls M; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA.
  • Zhou H; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, United Kingdom.
  • Aguti S; Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Cummings BB; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, United Kingdom.
  • Lek M; Analytical and Translation Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Tukiainen T; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Marshall JL; Analytical and Translation Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Regev O; Analytical and Translation Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
  • Marek-Yagel D; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Sarkozy A; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Butterfield RJ; Courant Institute of Mathematical Sciences, New York University, New York, USA.
  • Jou C; Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
  • Jimenez-Mallebrera C; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, United Kingdom.
  • Li Y; Department of Neurology and Pediatrics, University of Utah, Salt Lake City, Utah, USA.
  • Gartioux C; Pathology Department and Biobanc de l'Hospital Infantil Sant Joan de Déu per a la Investigació, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Mamchaoui K; Neuromuscular Unit, Neuropediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
  • Allamand V; CIBERER (ISCIII), Madrid, Spain.
  • Gualandi F; Neuromuscular Unit, Neuropediatrics Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
  • Ferlini A; CIBERER (ISCIII), Madrid, Spain.
  • Hanssen E; Peptide/Protein Sequencing Facility, National Institute of Neurological Disorder and Stroke, NIH, Bethesda, Maryland, USA.
  • Wilton SD; Sorbonne Université, Inserm, Association Institut de Myologie, Centre de Recherche en Myologie, UMRS974, Paris, France.
  • Lamandé SR; Sorbonne Université, Inserm, Association Institut de Myologie, Centre de Recherche en Myologie, UMRS974, Paris, France.
  • MacArthur DG; Medical Genetics Unit, Department of Medical Science, University of Ferrara, Ferrara, Italy.
  • Wagener R; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, United Kingdom.
  • Muntoni F; Medical Genetics Unit, Department of Medical Science, University of Ferrara, Ferrara, Italy.
  • Bönnemann CG; Bio21 Advanced Microscopy Facility, The University of Melbourne, Melbourne, Australia.
JCI Insight ; 4(6)2019 03 21.
Article em En | MEDLINE | ID: mdl-30895940
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Splicing de RNA / Predisposição Genética para Doença / Colágeno Tipo VI / Distrofias Musculares Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Splicing de RNA / Predisposição Genética para Doença / Colágeno Tipo VI / Distrofias Musculares Idioma: En Ano de publicação: 2019 Tipo de documento: Article