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

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 implicated in the disease. In this study, we condu...

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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Kalmar, Bernadett, Innes, Amy, Wanisch, Klaus, Kolaszynska, Alicia Koyen, Pandraud, Amelie, Kelly, Gavin, Abramov, Andrey Y., Reilly, Mary M., Schiavo, Giampietro, Greensmith, Linda
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2017
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5808738/
https://ncbi.nlm.nih.gov/pubmed/28595321
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx216
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