Increased IGF-1 in muscle modulates the phenotype of severe SMA mice

Autor: Celeste E. Lipkes, Dong W. Choe, Marta Bosch-Marce, Charlotte J. Sumner, Lingling Kong, Claribel D. Wee, Tara Martinez, James P. Van Meerbeke, Antonio Musarò

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2011, 20 (9), pp.1844-53. ⟨10.1093/hmg/ddr067⟩
Human Molecular Genetics; Vol 20

Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by the mutation of the survival motor neuron 1 (SMN1) gene and deficiency of the SMN protein. Severe SMA mice have abnormal motor function and small, immature myofibers early i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::026997446d9b5ad67a22868d73ab3012
https://pubmed.ncbi.nlm.nih.gov/21325354