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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 (show DCAF7 Proteins) 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.
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.
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 (show SQSTM1 Proteins) 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).
, Protein Mpv17
, Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome
, MpV17 transgene, murine homolog, glomerulosclerosis
, Mpv17 transgene, kidney disease mutant-like