DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.
Maresca, Alessandra
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism. [electronic resource] - Human molecular genetics 07 2020 - 1864-1881 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddaa014 doi
DNA (Cytosine-5-)-Methyltransferase 1--genetics
DNA Methylation--genetics
Deafness--genetics
Female
Fibroblasts--metabolism
Genetic Predisposition to Disease
Hereditary Sensory and Autonomic Neuropathies--genetics
Humans
Male
Mitochondria--genetics
Mutation--genetics
Narcolepsy--genetics
Nerve Degeneration--genetics
Oxidative Phosphorylation
Phenotype
Protein Processing, Post-Translational--genetics
Spinocerebellar Ataxias--genetics
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism. [electronic resource] - Human molecular genetics 07 2020 - 1864-1881 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1460-2083
10.1093/hmg/ddaa014 doi
DNA (Cytosine-5-)-Methyltransferase 1--genetics
DNA Methylation--genetics
Deafness--genetics
Female
Fibroblasts--metabolism
Genetic Predisposition to Disease
Hereditary Sensory and Autonomic Neuropathies--genetics
Humans
Male
Mitochondria--genetics
Mutation--genetics
Narcolepsy--genetics
Nerve Degeneration--genetics
Oxidative Phosphorylation
Phenotype
Protein Processing, Post-Translational--genetics
Spinocerebellar Ataxias--genetics