Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 113

1.

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
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.

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
4.

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
5.

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
6.

Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.

AlSaman A, Tomoum H, Invernizzi F, Zeviani M.

Saudi J Gastroenterol. 2012 Jul-Aug;18(4):285-9. doi: 10.4103/1319-3767.98439.

7.

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.

Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK.

J Hepatol. 2014 Nov;61(5):1056-63. doi: 10.1016/j.jhep.2014.06.038. Epub 2014 Jul 10.

8.

A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure.

Sarkhy AA, Al-Sunaid A, Abdullah A, AlFadhel M, Eiyad W.

Ann Saudi Med. 2014 Mar-Apr;34(2):175-8. doi: 10.5144/0256-4947.2014.175.

9.

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.

Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, Abdenur JE.

Mol Genet Metab. 2016 Sep;119(1-2):91-9. doi: 10.1016/j.ymgme.2016.07.001. Epub 2016 Jul 4.

PMID:
27448789
10.

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.

11.

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.

Navarro-Sastre A, Martín-Hernández E, Campos Y, Quintana E, Medina E, de Las Heras RS, Lluch M, Muñoz A, del Hoyo P, Martín R, Gort L, Briones P, Ribes A.

Mol Genet Metab. 2008 Jun;94(2):234-9. doi: 10.1016/j.ymgme.2008.01.012. Epub 2008 Mar 10. Erratum in: Mol Genet Metab. 2012 Aug;106(4):504.

PMID:
18329934
12.

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

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.

Hepatology. 2007 Oct;46(4):1218-27. Erratum in: Hepatology. 2008 Feb;47(2):768.

PMID:
17694548
13.

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.

Parini R, Furlan F, Notarangelo L, Spinazzola A, Uziel G, Strisciuglio P, Concolino D, Corbetta C, Nebbia G, Menni F, Rossi G, Maggioni M, Zeviani M.

J Hepatol. 2009 Jan;50(1):215-21. doi: 10.1016/j.jhep.2008.08.019. Epub 2008 Oct 31.

14.

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

Freisinger P, Fütterer N, Lankes E, Gempel K, Berger TM, Spalinger J, Hoerbe A, Schwantes C, Lindner M, Santer R, Burdelski M, Schaefer H, Setzer B, Walker UA, Horváth R.

Arch Neurol. 2006 Aug;63(8):1129-34.

PMID:
16908739
15.

Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies.

Lim BC, Park JD, Hwang H, Kim KJ, Hwang YS, Chae JH, Cheon JE, Kim IO, Lee R, Moon HK.

J Child Neurol. 2009 Jul;24(7):828-32. doi: 10.1177/0883073808331085.

PMID:
19617458
16.

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE.

Hum Pathol. 2016 Mar;49:27-32. doi: 10.1016/j.humpath.2015.09.039. Epub 2015 Oct 28.

PMID:
26826406
17.

Clinical and molecular features of mitochondrial DNA depletion syndromes.

Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I, Zeviani M.

J Inherit Metab Dis. 2009 Apr;32(2):143-58. doi: 10.1007/s10545-008-1038-z. Epub 2008 Dec 27.

PMID:
19125351
18.

Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation.

Rabinowitz SS, Gelfond D, Chen CK, Gloster ES, Whitington PF, Sacconi S, Salviati L, DiMauro S.

J Pediatr Gastroenterol Nutr. 2004 Feb;38(2):216-20. No abstract available.

PMID:
14734888
19.

A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.

Choi YR, Hong YB, Jung SC, Lee JH, Kim YJ, Park HJ, Lee J, Koo H, Lee JS, Jwa DH, Jung N, Woo SY, Kim SB, Chung KW, Choi BO.

BMC Neurol. 2015 Oct 5;15:179. doi: 10.1186/s12883-015-0430-1.

20.

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

Supplemental Content

Support Center