Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.L143*
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MPV17

NM_002437.5:p.L143*

Associated Papers

Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.

Legati A et al.

Current Neurology and Neuroscience Reports, 2023

Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.

Müller-Nedebock AC et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

El-Hattab AW et al.

Human Mutation, 2018

Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.

Gilberti M et al.

Plos One, 2018

30273399 (PubMed )
Supplement: pone.0205014.s003.doc

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.

Choi YR et al.

Bmc Neurology, 2015

The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species.

Löllgen S et al.

Biological Chemistry, 2015

Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.

Vital A et al.

Journal of the Peripheral Nervous System : Jpns, 2014

Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.

Mendelsohn BA et al.

Jimd Reports, 2014

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions.

Garone C et al.

Archives of Neurology, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."