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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Dettagli Bibliografici
Pubblicato in:Front Genet
Autori principali: Maresca, Alessandra, Zaffagnini, Mirko, Caporali, Leonardo, Carelli, Valerio, Zanna, Claudia
Natura: Artigo
Lingua:Inglês
Pubblicazione: Frontiers Media S.A. 2015
Soggetti:
Genetics
Accesso online: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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