ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

De novo mutations in ATAD3A (ATPase family AAA-domain containing protein 3A) were recently found to cause a neurological syndrome with developmental delay, hypotonia, spasticity, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. Using whole-exome sequencing, we identified a dominant...

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Pubblicato in:Hum Mol Genet
Autori principali: Cooper, Helen M., Yang, Yang, Ylikallio, Emil, Khairullin, Rafil, Woldegebriel, Rosa, Lin, Kai-Lan, Euro, Liliya, Palin, Eino, Wolf, Alexander, Trokovic, Ras, Isohanni, Pirjo, Kaakkola, Seppo, Auranen, Mari, Lönnqvist, Tuula, Wanrooij, Sjoerd, Tyynismaa, Henna
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2017
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5393146/
https://ncbi.nlm.nih.gov/pubmed/28158749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx042
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