Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

Author

TANIGUCHI-IKEDA, Mariko^{1 2} ; KOBAYASHI, Kazuhiro¹ ; KAJI, Ryuji⁵ ; YOKOTA, Toshifumi⁶ ; TAKEDA, Shin'ichi⁷ ; TODA, Tatsushi¹ ; KANAGAWA, Motoi¹ ; YU, Chih-Chieh¹ ; MORI, Kouhei¹ ; ODA, Tetsuya¹ ; KUGA, Atsushi¹ ; KURAHASHI, Hiroki³ ; AKMAN, Hasan O⁴ ; DIMAURO, Salvatore⁴
[1] Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan
[2] Division of General Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan
[3] Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Aichi 470-1192, Japan
[4] Department of Neurology, Columbia University Medical Center, New York, NY 10032, United States
[5] Department of Clinical Neuroscience, The University of Tokushima Graduate School, Tokushima 770-8503, Japan
[6] Department Medical Genetics, Faculty Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2H 7, Canada
[7] Department of MolecularTherapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187-8502, Japan

Source

Nature (London). 2011, Vol 478, Num 7367, pp 127-131, 5 p ; ref : 30 ref

CODEN

NATUAS

ISSN

0028-0836

Scientific domain

Multidisciplinary

Publisher

Nature Publishing Group, London

Publication country

United Kingdom

Document type

Article

Language

English

Keyword (fr)

Dystrophie musculaire Elément transposable Epissage Homme Modèle animal Pathogénie Rétrotransposon Souris Dystrophie musculaire congénitale type Fukuyama Gène FKTN Japon Maladie héréditaire Mammalia Modèle biologique Pathologie du système nerveux Pathologie neuromusculaire Rodentia Vertebrata Asie Extrême Orient

Keyword (en)

Muscular dystrophy Transposable element Splicing Human Animal model Pathogenesis Retrotransposon Mouse Japan Genetic disease Mammalia Biological model Nervous system diseases Neuromuscular diseases Rodentia Vertebrata Asia Far east

Keyword (es)

Distrofia muscular Elemento transportable Empalme Hombre Modelo animal Patogenia Retrotransposón Ratón Japón Enfermedad hereditaria Mammalia Modelo biológico Sistema nervioso patología Neuromuscular patología Rodentia Vertebrata Asia Extremo Oriente

Classification

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases

Discipline

Eukaryotes genetics. Biological and molecular evolution Neurology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

24569715

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS