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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Detalles Bibliográficos
Publicado en:Front Genet
Main Authors: Maresca, Alessandra, Zaffagnini, Mirko, Caporali, Leonardo, Carelli, Valerio, Zanna, Claudia
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2015
Assuntos:
Genetics
Acceso en liña: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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