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Items: 1 to 20 of 102

1.

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

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.

Nat Genet. 2006 May;38(5):570-5. Epub 2006 Apr 2.

PMID:
16582910
2.

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.

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.

Eur J Hum Genet. 2014 Feb;22(2):184-91. doi: 10.1038/ejhg.2013.112. Epub 2013 May 29.

3.
4.

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ.

Mol Genet Metab. 2010 Mar;99(3):300-8. doi: 10.1016/j.ymgme.2009.10.003. Epub 2009 Oct 13.

PMID:
20074988
5.

Quantitative evaluation of the mitochondrial DNA depletion syndrome.

Dimmock D, Tang LY, Schmitt ES, Wong LJ.

Clin Chem. 2010 Jul;56(7):1119-27. doi: 10.1373/clinchem.2009.141549. Epub 2010 May 6.

6.

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chrétien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rötig A.

Nat Genet. 2007 Jun;39(6):776-80. Epub 2007 May 7.

PMID:
17486094
7.

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.

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.

Am J Hum Genet. 2006 Sep;79(3):544-8. Epub 2006 Jun 28.

8.

The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential.

Antonenkov VD, Isomursu A, Mennerich D, Vapola MH, Weiher H, Kietzmann T, Hiltunen JK.

J Biol Chem. 2015 May 29;290(22):13840-61. doi: 10.1074/jbc.M114.608083. Epub 2015 Apr 10.

9.

A monoclonal antibody raised against bacterially expressed MPV17 sequences shows peroxisomal, endosomal and lysosomal localisation in U2OS cells.

Weiher H, Pircher H, Jansen-Dürr P, Hegenbarth S, Knolle P, Grunau S, Vapola M, Hiltunen JK, Zwacka RM, Schmelzer E, Reumann K, Will H.

BMC Res Notes. 2016 Feb 27;9:128. doi: 10.1186/s13104-016-1939-0.

10.

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.

Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N.

Nat Genet. 2001 Nov;29(3):337-41. Erratum in: Nat Genet 2001 Dec;29(4):491.

PMID:
11687800
11.

AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure.

Bottani E, Giordano C, Civiletto G, Di Meo I, Auricchio A, Ciusani E, Marchet S, Lamperti C, d'Amati G, Viscomi C, Zeviani M.

Mol Ther. 2014 Jan;22(1):10-7. doi: 10.1038/mt.2013.230. Epub 2013 Jul 3.

12.

Prkdc participates in mitochondrial genome maintenance and prevents Adriamycin-induced nephropathy in mice.

Papeta N, Zheng Z, Schon EA, Brosel S, Altintas MM, Nasr SH, Reiser J, D'Agati VD, Gharavi AG.

J Clin Invest. 2010 Nov;120(11):4055-64. doi: 10.1172/JCI43721. Epub 2010 Oct 18.

13.

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.

Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, Alsaleem B, Bakhsh E, Ali A, Alasmari A, Lone K, Nahari A, Eyaid W, Al Balwi M, Craig K, Butterworth A, He L, Taylor RW.

J Pediatr. 2014 Mar;164(3):553-9.e1-2. doi: 10.1016/j.jpeds.2013.10.082. Epub 2013 Dec 8.

PMID:
24321534
14.

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.

Viscomi C, Spinazzola A, Maggioni M, Fernandez-Vizarra E, Massa V, Pagano C, Vettor R, Mora M, Zeviani M.

Hum Mol Genet. 2009 Jan 1;18(1):12-26. doi: 10.1093/hmg/ddn309. Epub 2008 Sep 24.

15.

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

Dallabona C, Marsano RM, Arzuffi P, Ghezzi D, Mancini P, Zeviani M, Ferrero I, Donnini C.

Hum Mol Genet. 2010 Mar 15;19(6):1098-107. doi: 10.1093/hmg/ddp581. Epub 2009 Dec 30.

PMID:
20042463
16.

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.

Dalla Rosa I, Cámara Y, Durigon R, Moss CF, Vidoni S, Akman G, Hunt L, Johnson MA, Grocott S, Wang L, Thorburn DR, Hirano M, Poulton J, Taylor RW, Elgar G, Martí R, Voshol P, Holt IJ, Spinazzola A.

PLoS Genet. 2016 Jan 13;12(1):e1005779. doi: 10.1371/journal.pgen.1005779. eCollection 2016 Jan.

17.

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.

El-Hattab AW, Scaglia F.

Neurotherapeutics. 2013 Apr;10(2):186-98. doi: 10.1007/s13311-013-0177-6. Review.

18.

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

Spinazzola A, Santer R, Akman OH, Tsiakas K, Schaefer H, Ding X, Karadimas CL, Shanske S, Ganesh J, Di Mauro S, Zeviani M.

Arch Neurol. 2008 Aug;65(8):1108-13. doi: 10.1001/archneur.65.8.1108.

PMID:
18695062
19.

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A.

Mol Genet Metab. 2012 Nov;107(3):409-15. doi: 10.1016/j.ymgme.2012.08.018. Epub 2012 Aug 31.

PMID:
22980518
20.

Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.

Piekutowska-Abramczuk D, Pronicki M, Strawa K, Karkucińska-Więckowska A, Szymańska-Dębińska T, Fidziańska A, Więckowski MR, Jurkiewicz D, Ciara E, Jankowska I, Sykut-Cegielska J, Krajewska-Walasek M, Płoski R, Pronicka E.

Clin Genet. 2014 Jun;85(6):573-7. doi: 10.1111/cge.12228. Epub 2013 Jul 28.

PMID:
23829229

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