Depletion of mitochondrial DNA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mitochondrial DNA depletion syndrome (MDS) is characterized by a reduction in mtDNA copy number and has been associated with mutations in eight nuclear genes, including enzymes involved in mitochondrial nucleotide metabolism (POLG, TK2, DGUOK, SUCLA2, SUCLG1, PEO1) and MPV17.
|
18504129 |
2008 |
Depletion of mitochondrial DNA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.
|
16582910 |
2006 |
Depletion of mitochondrial DNA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
|
23714749 |
2014 |
Depletion of mitochondrial DNA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
|
18695062 |
2008 |
Depletion of mitochondrial DNA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.
|
22824774 |
2013 |
Depletion of mitochondrial DNA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations affecting MPV17 are associated with mitochondrial DNA depletion syndrome (MDDS).
|
23045398 |
2012 |
Depletion of mitochondrial DNA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human MPV17 cause a hepatocerebral form of mitochondrial DNA depletion syndrome (MDS) hallmarked by early-onset liver failure, leading to premature death.
|
24247928 |
2014 |
Depletion of mitochondrial DNA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Navajo neurohepatopathy is a hepato-cerebral variant of mitochondrial DNA depletion syndrome due to a specific mutation in MPV17, a gene located on human chromosome 2p.
|
18261905 |
2008 |
Depletion of mitochondrial DNA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study is to delineate the specific clinical, pathological, biochemical, and molecular features associated with mitochondrial DNA depletion due to MPV17 gene mutations.
|
17694548 |
2007 |
Depletion of mitochondrial DNA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The role of the Mpv17 protein mutations of which cause mitochondrial DNA depletion syndrome (MDDS): lessons from homologs in different species.
|
25205723 |
2015 |
Depletion of mitochondrial DNA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To describe the clinical and biological findings of two Japanese siblings with novel MPV17 gene mutations (c.451insC/c.509C > T) manifesting hepatic mitochondrial DNA depletion syndrome.
|
19520594 |
2009 |
Depletion of mitochondrial DNA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To determine the frequency of mitochondrial DNA depletion syndrome (MDS) in infants with cholestasis and liver failure and to further clarify the clinical, biochemical, radiologic, histopathologic, and molecular features associated with MDS due to deoxyguanosine kinase (DGUOK) and MPV17 gene mutations.
|
24321534 |
2014 |
Depletion of mitochondrial DNA
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We find that roy orbison is caused by an intronic defect in the gene mpv17, encoding an inner mitochondrial membrane protein that has been implicated in the human mitochondrial DNA depletion syndrome.
|
28760346 |
2017 |