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DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?

Autosomal dominant cerebellar ataxia-deafness and narcolepsy (ADCA-DN) and Hereditary sensory neuropathy with dementia and hearing loss (HSN1E) are two rare, overlapping neurodegenerative syndromes that have been recently linked to allelic dominant pathogenic mutations in the DNMT1 gene, coding for...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Maresca, Alessandra, Zaffagnini, Mirko, Caporali, Leonardo, Carelli, Valerio, Zanna, Claudia
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4357308/
https://ncbi.nlm.nih.gov/pubmed/25815005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2015.00090
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