MPV17: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Protein MPV17''' is a [[protein]] that in humans is encoded by the ''MPV17'' [[gene]].<ref name="pmid8281143">{{cite journal | vauthors = Karasawa M, Zwacka RM, Reuter A, Fink T, Hsieh CL, Lichter P, Francke U, Weiher H | title = The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization | journal = Human Molecular Genetics | volume = 2 | issue = 11 | pages = 1829–34 | date = Nov 1993 | pmid = 8281143 | pmc =  | doi = 10.1093/hmg/2.11.1829 }}</ref><ref name="pmid16582910">{{cite journal | vauthors = Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M | title = MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion | journal = Nature Genetics | volume = 38 | issue = 5 | pages = 570–5 | date = May 2006 | pmid = 16582910 | pmc =  | doi = 10.1038/ng1765 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: MPV17 MpV17 mitochondrial inner membrane protein| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4358| accessdate = }}</ref> It is a mitochondrial inner [[membrane protein]], which has a so far largely unknown role in [[mtDNA]] maintenance. Protein MPV17 is expressed in human [[pancreas]], [[kidney]], [[muscle]], [[liver]], [[lung]], [[placenta]], [[brain]] and [[heart]].<ref name="pmid23714749">{{cite journal | vauthors = Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Carver J, Diot A, Macleod L, Hargreaves I, Al-Hussaini A, Faqeih E, Asery A, Al Balwi M, Eyaid W, Al-Sunaid A, Kelly D, van Mourik I, Ball S, Jarvis J, Mulay A, Hadzic N, Samyn M, Baker A, Rahman S, Stewart H, Morris AA, Seller A, Fratter C, Taylor RW, Poulton J | title = Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene | journal = European Journal of Human Genetics | volume = 22 | issue = 2 | pages = 184–91 | date = Feb 2014 | pmid = 23714749 | doi = 10.1038/ejhg.2013.112 | pmc=3895632}}</ref> Human MPV17 is the orthologue of the mouse kidney disease gene, Mpv17. Loss of function has been shown to cause hepatocerebral [[Mitochondrial DNA depletion syndrome|mtDNA depletion syndromes]] (MDS) with oxidative [[phosphorylation]] failure and mtDNA depletion both in affected individuals and in Mpv17−/− mice.<ref name="pmid16582910"/><ref name="pmid18818194">{{cite journal | vauthors = Viscomi C, Spinazzola A, Maggioni M, Fernandez-Vizarra E, Massa V, Pagano C, Vettor R, Mora M, Zeviani M | title = Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice | journal = Human Molecular Genetics | volume = 18 | issue = 1 | pages = 12–26 | date = Jan 2009 | pmid = 18818194 | doi = 10.1093/hmg/ddn309 | pmc=2644642}}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = MpV17 mitochondrial inner membrane protein
| HGNCid = 7224
| Symbol = MPV17
| AltSymbols =; SYM1
| OMIM = 137960
| ECnumber = 
| Homologene = 39746
| MGIid = 97138
| GeneAtlas_image1 = PBB_GE_MPV17_206072_at_tn.png
| Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}} {{GNF_GO|id=GO:0005743 |text = mitochondrial inner membrane}} {{GNF_GO|id=GO:0005779 |text = integral to peroxisomal membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0000002 |text = mitochondrial genome maintenance}} {{GNF_GO|id=GO:0006800 |text = oxygen and reactive oxygen species metabolic process}} {{GNF_GO|id=GO:0042592 |text = homeostatic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 4358
    | Hs_Ensembl = ENSG00000115204
    | Hs_RefseqProtein = NP_002428
    | Hs_RefseqmRNA = NM_002437
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 27385864
    | Hs_GenLoc_end = 27399473
    | Hs_Uniprot = P39210
    | Mm_EntrezGene = 17527
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = NM_008622
    | Mm_RefseqProtein = NP_032648
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''MpV17 mitochondrial inner membrane protein''', also known as '''MPV17''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: MPV17 MpV17 mitochondrial inner membrane protein| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4358| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This protein was first thought to be a [[peroxisomal]] protein, but in 2006, Spinazzola demonstrated that it is a mitochondrial inner membrane protein that is implicated in the formation of [[reactive oxygen species]] (ROS).
{{PBB_Summary
| section_title =
| summary_text = 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).<ref name="entrez">{{cite web | title = Entrez Gene: MPV17 MpV17 mitochondrial inner membrane protein| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4358| accessdate = }}</ref>
}}


==References==
Restoration of Mpv17 expression in a Mpv17-/- mice restore [[mtDNA]] copy number, suggesting MPV17 is involved in mtDNA copy number, and in mtDNA maintenance.<ref name="pmid24247928">{{cite journal | vauthors = Bottani E, Giordano C, Civiletto G, Di Meo I, Auricchio A, Ciusani E, Marchet S, Lamperti C, d'Amati G, Viscomi C, Zeviani M | title = AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure | journal = Molecular Therapy | volume = 22 | issue = 1 | pages = 10–7 | date = Jan 2014 | pmid = 24247928 | pmc = 3880585 | doi = 10.1038/mt.2013.230 }}</ref>
{{reflist|2}}
 
==Further reading==
MPV17 seems to be also involved in apoptosis in podocytes, and involved in ROS.<ref name="pmid24598802">{{cite journal | vauthors = Casalena G, Krick S, Daehn I, Yu L, Ju W, Shi S, Tsai SY, D'Agati V, Lindenmeyer M, Cohen CD, Schlondorff D, Bottinger EP | title = Mpv17 in mitochondria protects podocytes against mitochondrial dysfunction and apoptosis in vivo and in vitro | journal = American Journal of Physiology. Renal Physiology | volume = 306 | issue = 11 | pages = F1372-80 | date = Jun 2014 | pmid = 24598802 | doi = 10.1152/ajprenal.00608.2013 | pmc=4042102}}</ref>
{{refbegin | 2}}
 
{{PBB_Further_reading
== Structure ==
| citations =
 
*{{cite journal | author=Schenkel J, Zwacka RM, Rutenberg C, ''et al.'' |title=Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue. |journal=Kidney Int. |volume=48 |issue= 1 |pages= 80-4 |year= 1995 |pmid= 7564095 |doi= }}
=== Gene ===
*{{cite journal | author=Karasawa M, Zwacka RM, Reuter A, ''et al.'' |title=The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization. |journal=Hum. Mol. Genet. |volume=2 |issue= 11 |pages= 1829-34 |year= 1994 |pmid= 8281143 |doi= }}
 
*{{cite journal  | author=Weiher H |title=Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its human homologue. |journal=Adv. Nephrol. Necker Hosp. |volume=22 |issue= |pages= 37-42 |year= 1993 |pmid= 8427063 |doi= }}
The human MPV17 gene is located on [[chromosome 2]] at p21-23, comprising eight [[exons]] encoding 176 [[amino acids]].<ref name="entrez"/>
*{{cite journal | author=Iida R, Yasuda T, Tsubota E, ''et al.'' |title=M-LP, Mpv17-like protein, has a peroxisomal membrane targeting signal comprising a transmembrane domain and a positively charged loop and up-regulates expression of the manganese superoxide dismutase gene. |journal=J. Biol. Chem. |volume=278 |issue= 8 |pages= 6301-6 |year= 2003 |pmid= 12471025 |doi= 10.1074/jbc.M210886200 }}
 
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
=== Protein ===
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
 
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
MPV17 belongs to a family of integral [[membrane proteins]] consisting of four members (PXMP2, MPV17, MP-L, and FKSG24 (MPV17L2)) in mammals and two members (Sym1 and Yor292) in [[yeast]]. The amino acid sequence of MPV17 (176 amino acids) contains four [[cysteine]] residues and three putative [[phosphorylation]] sites implies that this protein may act as a [[redox]]- and [[Adenosine triphosphate|ATP]]-sensitive channel.<ref name="pmid25861990">{{cite journal | vauthors = Antonenkov VD, Isomursu A, Mennerich D, Vapola MH, Weiher H, Kietzmann T, Hiltunen JK | title = The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential | journal = The Journal of Biological Chemistry | volume = 290 | issue = 22 | pages = 13840–61 | date = May 2015 | pmid = 25861990 | doi = 10.1074/jbc.M114.608083 | pmc=4447960}}</ref>
*{{cite journal | author=Hillier LW, Graves TA, Fulton RS, ''et al.'' |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724-31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 }}
 
*{{cite journal | author=Calvo S, Jain M, Xie X, ''et al.'' |title=Systematic identification of human mitochondrial disease genes through integrative genomics. |journal=Nat. Genet. |volume=38 |issue= 5 |pages= 576-82 |year= 2006 |pmid= 16582907 |doi= 10.1038/ng1776 }}
== Clinical significance ==
*{{cite journal | author=Spinazzola A, Viscomi C, Fernandez-Vizarra E, ''et al.'' |title=MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. |journal=Nat. Genet. |volume=38 |issue= 5 |pages= 570-5 |year= 2006 |pmid= 16582910 |doi= 10.1038/ng1765 }}
 
*{{cite journal | author=Iida R, Yasuda T, Tsubota E, ''et al.'' |title=Human Mpv17-like protein is localized in peroxisomes and regulates expression of antioxidant enzymes. |journal=Biochem. Biophys. Res. Commun. |volume=344 |issue= 3 |pages= 948-54 |year= 2006 |pmid= 16631601 |doi= 10.1016/j.bbrc.2006.04.008 }}
Mutations in this gene have been associated with the hepatocerebral form of [[mitochondrial DNA depletion syndrome]] (MDS), a [[mutation]] in this protein leads to an [[mtDNA]] (mitochondrial DNA) copy number decrease.<ref name="entrez" /> By 2013, MDS caused by MPV17 mutations had been reported in 32 patients with the clinical manifestations including early progressive [[liver failure]], neurological abnormalities, [[hypoglycaemia]] and raised blood [[lactic acid|lactate]].<ref name="pmid23714749"/> In addition, MPV17 mutations have also been associated with autosomal recessive adult-onset [[neuropathy]] and [[leukoencephalopathy]] with multiple mtDNA deletions in [[skeletal muscle]].<ref name="pmid22508010">{{cite journal | vauthors = Blakely EL, Butterworth A, Hadden RD, Bodi I, He L, McFarland R, Taylor RW | title = MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle | journal = Neuromuscular Disorders | volume = 22 | issue = 7 | pages = 587–91 | date = Jul 2012 | pmid = 22508010 | doi = 10.1016/j.nmd.2012.03.006 | pmc=3387382}}</ref> Thus, MPV17 mutations can lead to recessive MDS or recessive multiple mtDNA deletion disorders.
*{{cite journal | author=Karadimas CL, Vu TH, Holve SA, ''et al.'' |title=Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. |journal=Am. J. Hum. Genet. |volume=79 |issue= 3 |pages= 544-8 |year= 2006 |pmid= 16909392 |doi= 10.1086/506913 }}
 
*{{cite journal | author=Wong LJ, Brunetti-Pierri N, Zhang Q, ''et al.'' |title=Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. |journal=Hepatology |volume=46 |issue= 4 |pages= 1218-27 |year= 2007 |pmid= 17694548 |doi= 10.1002/hep.21799 }}
== Interactions ==
}}
 
MPV17 has been shown to [[Protein-protein interaction|interact]] with [[DNA-PKcs|Prkdc]] protein during [[Adriamycin]]-induced [[nephropathy]] in mice.<ref name="pmid20978358">{{cite journal | vauthors = Papeta N, Zheng Z, Schon EA, Brosel S, Altintas MM, Nasr SH, Reiser J, D'Agati VD, Gharavi AG | title = Prkdc participates in mitochondrial genome maintenance and prevents Adriamycin-induced nephropathy in mice | journal = The Journal of Clinical Investigation | volume = 120 | issue = 11 | pages = 4055–64 | date = Nov 2010 | pmid = 20978358 | doi = 10.1172/JCI43721 | pmc=2964992}}</ref>
 
== References ==
{{reflist|33em}}
 
== Further reading ==
{{refbegin|33em}}
* {{cite journal | vauthors = Schenkel J, Zwacka RM, Rutenberg C, Reuter A, Waldherr R, Weiher H | title = Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue | journal = Kidney International | volume = 48 | issue = 1 | pages = 80–4 | date = Jul 1995 | pmid = 7564095 | doi = 10.1038/ki.1995.270 }}
* {{cite journal | vauthors = Weiher H | title = Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its human homologue | journal = Advances in Nephrology From the Necker Hospital | volume = 22 | issue = | pages = 37–42 | year = 1993 | pmid = 8427063 | doi = }}
* {{cite journal | vauthors = Iida R, Yasuda T, Tsubota E, Takatsuka H, Masuyama M, Matsuki T, Kishi K | title = M-LP, Mpv17-like protein, has a peroxisomal membrane targeting signal comprising a transmembrane domain and a positively charged loop and up-regulates expression of the manganese superoxide dismutase gene | journal = The Journal of Biological Chemistry | volume = 278 | issue = 8 | pages = 6301–6 | date = Feb 2003 | pmid = 12471025 | doi = 10.1074/jbc.M210886200 }}
* {{cite journal | vauthors = Calvo S, Jain M, Xie X, Sheth SA, Chang B, Goldberger OA, Spinazzola A, Zeviani M, Carr SA, Mootha VK | title = Systematic identification of human mitochondrial disease genes through integrative genomics | journal = Nature Genetics | volume = 38 | issue = 5 | pages = 576–82 | date = May 2006 | pmid = 16582907 | doi = 10.1038/ng1776 }}
* {{cite journal | vauthors = Iida R, Yasuda T, Tsubota E, Takatsuka H, Matsuki T, Kishi K | title = Human Mpv17-like protein is localized in peroxisomes and regulates expression of antioxidant enzymes | journal = Biochemical and Biophysical Research Communications | volume = 344 | issue = 3 | pages = 948–54 | date = Jun 2006 | pmid = 16631601 | doi = 10.1016/j.bbrc.2006.04.008 }}
* {{cite journal | vauthors = Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M | title = Navajo neurohepatopathy is caused by a mutation in the MPV17 gene | journal = American Journal of Human Genetics | volume = 79 | issue = 3 | pages = 544–8 | date = Sep 2006 | pmid = 16909392 | pmc = 1559552 | doi = 10.1086/506913 }}
* {{cite journal | vauthors = Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ | title = Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy | journal = Hepatology | volume = 46 | issue = 4 | pages = 1218–27 | date = Oct 2007 | pmid = 17694548 | doi = 10.1002/hep.21799 }}
{{refend}}
{{refend}}


{{protein-stub}}
 
{{WikiDoc Sources}}
{{gene-2-stub}}

Latest revision as of 03:16, 27 October 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

n/a

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RefSeq (mRNA)

n/a

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Protein MPV17 is a protein that in humans is encoded by the MPV17 gene.[1][2][3] It is a mitochondrial inner membrane protein, which has a so far largely unknown role in mtDNA maintenance. Protein MPV17 is expressed in human pancreas, kidney, muscle, liver, lung, placenta, brain and heart.[4] Human MPV17 is the orthologue of the mouse kidney disease gene, Mpv17. Loss of function has been shown to cause hepatocerebral mtDNA depletion syndromes (MDS) with oxidative phosphorylation failure and mtDNA depletion both in affected individuals and in Mpv17−/− mice.[2][5]

Function

This protein was first thought to be a peroxisomal protein, but in 2006, Spinazzola demonstrated that it is a mitochondrial inner membrane protein that is implicated in the formation of reactive oxygen species (ROS).

Restoration of Mpv17 expression in a Mpv17-/- mice restore mtDNA copy number, suggesting MPV17 is involved in mtDNA copy number, and in mtDNA maintenance.[6]

MPV17 seems to be also involved in apoptosis in podocytes, and involved in ROS.[7]

Structure

Gene

The human MPV17 gene is located on chromosome 2 at p21-23, comprising eight exons encoding 176 amino acids.[3]

Protein

MPV17 belongs to a family of integral membrane proteins consisting of four members (PXMP2, MPV17, MP-L, and FKSG24 (MPV17L2)) in mammals and two members (Sym1 and Yor292) in yeast. The amino acid sequence of MPV17 (176 amino acids) contains four cysteine residues and three putative phosphorylation sites implies that this protein may act as a redox- and ATP-sensitive channel.[8]

Clinical significance

Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDS), a mutation in this protein leads to an mtDNA (mitochondrial DNA) copy number decrease.[3] By 2013, MDS caused by MPV17 mutations had been reported in 32 patients with the clinical manifestations including early progressive liver failure, neurological abnormalities, hypoglycaemia and raised blood lactate.[4] In addition, MPV17 mutations have also been associated with autosomal recessive adult-onset neuropathy and leukoencephalopathy with multiple mtDNA deletions in skeletal muscle.[9] Thus, MPV17 mutations can lead to recessive MDS or recessive multiple mtDNA deletion disorders.

Interactions

MPV17 has been shown to interact with Prkdc protein during Adriamycin-induced nephropathy in mice.[10]

References

  1. ↑ Karasawa M, Zwacka RM, Reuter A, Fink T, Hsieh CL, Lichter P, Francke U, Weiher H (Nov 1993). "The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization". Human Molecular Genetics. 2 (11): 1829–34. doi:10.1093/hmg/2.11.1829. PMID 8281143.
  2. ↑ 2.0 2.1 Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M (May 2006). "MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion". Nature Genetics. 38 (5): 570–5. doi:10.1038/ng1765. PMID 16582910.
  3. ↑ 3.0 3.1 3.2 "Entrez Gene: MPV17 MpV17 mitochondrial inner membrane protein".
  4. ↑ 4.0 4.1 Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Carver J, Diot A, Macleod L, Hargreaves I, Al-Hussaini A, Faqeih E, Asery A, Al Balwi M, Eyaid W, Al-Sunaid A, Kelly D, van Mourik I, Ball S, Jarvis J, Mulay A, Hadzic N, Samyn M, Baker A, Rahman S, Stewart H, Morris AA, Seller A, Fratter C, Taylor RW, Poulton J (Feb 2014). "Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene". European Journal of Human Genetics. 22 (2): 184–91. doi:10.1038/ejhg.2013.112. PMC 3895632. PMID 23714749.
  5. ↑ Viscomi C, Spinazzola A, Maggioni M, Fernandez-Vizarra E, Massa V, Pagano C, Vettor R, Mora M, Zeviani M (Jan 2009). "Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice". Human Molecular Genetics. 18 (1): 12–26. doi:10.1093/hmg/ddn309. PMC 2644642. PMID 18818194.
  6. ↑ Bottani E, Giordano C, Civiletto G, Di Meo I, Auricchio A, Ciusani E, Marchet S, Lamperti C, d'Amati G, Viscomi C, Zeviani M (Jan 2014). "AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure". Molecular Therapy. 22 (1): 10–7. doi:10.1038/mt.2013.230. PMC 3880585. PMID 24247928.
  7. ↑ Casalena G, Krick S, Daehn I, Yu L, Ju W, Shi S, Tsai SY, D'Agati V, Lindenmeyer M, Cohen CD, Schlondorff D, Bottinger EP (Jun 2014). "Mpv17 in mitochondria protects podocytes against mitochondrial dysfunction and apoptosis in vivo and in vitro". American Journal of Physiology. Renal Physiology. 306 (11): F1372–80. doi:10.1152/ajprenal.00608.2013. PMC 4042102. PMID 24598802.
  8. ↑ Antonenkov VD, Isomursu A, Mennerich D, Vapola MH, Weiher H, Kietzmann T, Hiltunen JK (May 2015). "The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential". The Journal of Biological Chemistry. 290 (22): 13840–61. doi:10.1074/jbc.M114.608083. PMC 4447960. PMID 25861990.
  9. ↑ Blakely EL, Butterworth A, Hadden RD, Bodi I, He L, McFarland R, Taylor RW (Jul 2012). "MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle". Neuromuscular Disorders. 22 (7): 587–91. doi:10.1016/j.nmd.2012.03.006. PMC 3387382. PMID 22508010.
  10. ↑ Papeta N, Zheng Z, Schon EA, Brosel S, Altintas MM, Nasr SH, Reiser J, D'Agati VD, Gharavi AG (Nov 2010). "Prkdc participates in mitochondrial genome maintenance and prevents Adriamycin-induced nephropathy in mice". The Journal of Clinical Investigation. 120 (11): 4055–64. doi:10.1172/JCI43721. PMC 2964992. PMID 20978358.

Further reading

  • Schenkel J, Zwacka RM, Rutenberg C, Reuter A, Waldherr R, Weiher H (Jul 1995). "Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue". Kidney International. 48 (1): 80–4. doi:10.1038/ki.1995.270. PMID 7564095.
  • Weiher H (1993). "Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its human homologue". Advances in Nephrology From the Necker Hospital. 22: 37–42. PMID 8427063.
  • Iida R, Yasuda T, Tsubota E, Takatsuka H, Masuyama M, Matsuki T, Kishi K (Feb 2003). "M-LP, Mpv17-like protein, has a peroxisomal membrane targeting signal comprising a transmembrane domain and a positively charged loop and up-regulates expression of the manganese superoxide dismutase gene". The Journal of Biological Chemistry. 278 (8): 6301–6. doi:10.1074/jbc.M210886200. PMID 12471025.
  • Calvo S, Jain M, Xie X, Sheth SA, Chang B, Goldberger OA, Spinazzola A, Zeviani M, Carr SA, Mootha VK (May 2006). "Systematic identification of human mitochondrial disease genes through integrative genomics". Nature Genetics. 38 (5): 576–82. doi:10.1038/ng1776. PMID 16582907.
  • Iida R, Yasuda T, Tsubota E, Takatsuka H, Matsuki T, Kishi K (Jun 2006). "Human Mpv17-like protein is localized in peroxisomes and regulates expression of antioxidant enzymes". Biochemical and Biophysical Research Communications. 344 (3): 948–54. doi:10.1016/j.bbrc.2006.04.008. PMID 16631601.
  • Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M (Sep 2006). "Navajo neurohepatopathy is caused by a mutation in the MPV17 gene". American Journal of Human Genetics. 79 (3): 544–8. doi:10.1086/506913. PMC 1559552. PMID 16909392.
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