Výsledky vyhledávání - "Alicia Koyen, Kolaszynska"

Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease

Autor: Bernadett, Kalmar, Amy, Innes, Klaus, Wanisch, Alicia Koyen, Kolaszynska, Amelie, Pandraud, Gavin, Kelly, Andrey Y, Abramov, Mary M, Reilly, Giampietro, Schiavo, Linda, Greensmith

Publikováno v: Human Molecular Genetics

Mutations in the small heat shock protein Hsp27, encoded by the HSPB1 gene, have been shown to cause Charcot Marie Tooth Disease type 2 (CMT-2) or distal hereditary motor neuropathy (dHMN). Protein aggregation and axonal transport deficits have been

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5f0205d6180e555d7db343f90a3fbb3a
https://pubmed.ncbi.nlm.nih.gov/28595321

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