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Human Polyclonal MPV17 Primary Antibody für ELISA, IHC - ABIN4335381
El-Hattab, Li, Schmitt, Zhang, Craigen, Wong: MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. in Molecular genetics and metabolism 2010
This work provides genetic evidence that both roy orbison and transparent affect the mpv17 locus by a similar if not identical genetic lesion.
The authors describe an 11 year old girl, born to consanguineous parents, who presented with rapidly progressive MPV17 hepatocerebral mitochondrial DNA depletion syndrome. Genetic analysis of the patient revealed a homozygous pathogenic mutation c.121C>T (p.R41W) in the MPV17 gene.
New case of Navajo Neurohepatopathy presented + literature review is provided to assist in diagnosis and management of the disease.
We report a novel homozygous mutation in MPV17 from two unrelated patients harboring axonal sensorimotor polyneuropathy without hepatoencephalopathy.
MPV17 is a Deltapsim-modulating channel that apparently contributes to mitochondrial homeostasis under different conditions
12 pathogenic mutations in mitochondrial DNA depletion syndrome in the MPV17 gene, of which 11 are novel, in 17 patients from 12 families.
A novel c.191C>G (p.Pro64Arg) MPV17 mutation has been identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
Case Report: functional splicing assay based on the use of minigenes to support that MPV17 c.70 + 5G > A mutation is disease causing.
results suggest that M-LPH functions to protect cells from oxidative stress and/or initiation of the mitochondrial apoptotic cascade under stressed conditions
eight new patients with seven novel mutations in MPV17
MPV17 is a mitochondrial inner membrane protein, and its absence or malfunction causes oxidative phosphorylation (OXPHOS) failure and mtDNA depletion, not only in affected individuals but also in Mpv17-/- mice
These results show the existence of the human homolog of M-LP and its participation in reactive oxygen species metabolism.
Sequencing of the MPV17 gene in six patients with Navajo neurohepatopathy from five families revealed the homozygous R50Q mutation described elsewhere.
Mutations in the MPV17 gene should be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile hepatic failure.
Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians.
Lethal hepatopathy, polyneuropathy, neurological regression and leukodystrophy are associated with mutations in MPV17.
study describes clinical, molecular morphological & biochemical features of 3 children with hepatocerebral mitochondrial DNA depletion syndrome secondary to novel MPV17 mutations; data confirm MPV17 mutations are associated with a 2-stage syndrome
describes in detail the specific clinical and biological characteristics of three patients with MPV17 gene mutations, a rare hepatocerebral mitochondrial DNA depletion syndrome (MDS)
clinical courses of patients with MPV17 mutations are greatly influenced by viral infections & dietary & pharmaceutical treatments targeting mitochondrial respiratory chain complex II may be beneficial in the clinical management of MPV17 mutant patients.
Data show that elevated rGMP incorporation is associated with early-onset mtDNA depletion in liver and late-onset multiple deletions in brain of Mpv17-/- mice, suggesting aberrant ribonucleotide incorporation is a primary mtDNA abnormality that can result in pathology.
changes in the expression of factors involved in mitochondrial deoxynucleotide homeostasis indicate a remodeling of nucleotide metabolism in MPV17 disease models
the nuclear gene MPV17, whose mutated forms are associated with hepatocerebral MDDS in humans, plays a so-far unknown role in mtDNA maintenance
the inner mitochondrial membrane protein Mpv17 in podocytes is essential for the maintenance of mitochondrial homeostasis and protects podocytes against oxidative stress-induced injury both in vitro and in vivo.
A lack of Mpv17 protein function in mitochondria thus seems to initiate tissue-specific cell-death pathways resulting in the pathology seen during the degeneration process.
Data suggest that Rhit acts as a repressor in the heat-induced and age-dependent transcriptional regulation of the (S) isoform of Mpv17-like protein.
the functions of certain M-LP isoforms are tissue- and species-specific, implying that their potential involvement in Reactive Oxygen Species metabolism may be redundant or may be complemented by other members of the Mpv17 family.
Severe mtDNA depletion in liver in Mpv17 knockout mice; these results demonstrate that Mpv17 controls mtDNA copy number by a highly tissue- and possibly cytotype-specific mechanism.
This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS).
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