Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 171

Related Citations for PubMed (Select 20920610)

1.

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

Cameron JM, Levandovskiy V, Mackay N, Ackerley C, Chitayat D, Raiman J, Halliday WH, Schulze A, Robinson BH.

Mitochondrion. 2011 Jan;11(1):191-9. doi: 10.1016/j.mito.2010.09.008. Epub 2010 Oct 30.

PMID:
20920610
2.

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.

Shchelochkov OA, Li FY, Wang J, Zhan H, Towbin JA, Jefferies JL, Wong LJ, Scaglia F.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):282-5. doi: 10.1016/j.ymgme.2010.07.012. Epub 2010 Jul 24.

PMID:
20728387
3.

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E.

Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16.

4.

Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.

Catteruccia M, Verrigni D, Martinelli D, Torraco A, Agovino T, Bonafé L, D'Amico A, Donati MA, Adorisio R, Santorelli FM, Carrozzo R, Bertini E, Dionisi-Vici C.

Mol Genet Metab. 2014 Mar;111(3):353-9. doi: 10.1016/j.ymgme.2014.01.001. Epub 2014 Jan 8.

PMID:
24485043
5.

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.

Jonckheere AI, Huigsloot M, Lammens M, Jansen J, van den Heuvel LP, Spiekerkoetter U, von Kleist-Retzow JC, Forkink M, Koopman WJ, Szklarczyk R, Huynen MA, Fransen JA, Smeitink JA, Rodenburg RJ.

Mitochondrion. 2011 Nov;11(6):954-63. doi: 10.1016/j.mito.2011.08.012. Epub 2011 Sep 14.

PMID:
21945727
6.

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.

Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, Barghuti F, Shaag A, Saada A, Korman SH, Elpeleg O, Yatsiv I.

J Med Genet. 2011 Mar;48(3):177-82. doi: 10.1136/jmg.2010.084608. Epub 2010 Dec 8.

PMID:
21147908
7.

Hereditary mitochondrial hypertrophic cardiomyopathy with mitochondrial myopathy of skeletal muscle, congenital cataract and lactic acidosis.

van Ekeren GJ, Stadhouders AM, Egberink GJ, Sengers RC, Daniëls O, Kubat K.

Virchows Arch A Pathol Anat Histopathol. 1987;412(1):47-52.

PMID:
3120403
8.

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

Torraco A, Verrigni D, Rizza T, Meschini MC, Vazquez-Memije ME, Martinelli D, Bianchi M, Piemonte F, Dionisi-Vici C, Santorelli FM, Bertini E, Carrozzo R.

Neurogenetics. 2012 Nov;13(4):375-86. doi: 10.1007/s10048-012-0343-8. Epub 2012 Sep 18.

PMID:
22986587
9.

Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement.

Figarella-Branger D, Pellissier JF, Scheiner C, Wernert F, Desnuelle C.

J Neurol Sci. 1992 Mar;108(1):105-13. Review.

PMID:
1320661
10.

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy.

Alston CL, Morak M, Reid C, Hargreaves IP, Pope SA, Land JM, Heales SJ, Horvath R, Mundy H, Taylor RW.

Neuromuscul Disord. 2010 Feb;20(2):131-5. doi: 10.1016/j.nmd.2009.10.010. Epub 2009 Dec 16.

PMID:
20018511
11.

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.

Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rötig A.

Hum Mutat. 2011 Nov;32(11):1225-31. doi: 10.1002/humu.21562. Epub 2011 Sep 14.

PMID:
21786366
12.

TMEM70 protein - a novel ancillary factor of mammalian ATP synthase.

Houstek J, Kmoch S, Zeman J.

Biochim Biophys Acta. 2009 May;1787(5):529-32. doi: 10.1016/j.bbabio.2008.11.013. Epub 2008 Dec 6.

13.

Effects of Fcj1-Mos1 and mitochondrial division on aggregation of mitochondrial DNA nucleoids and organelle morphology.

Itoh K, Tamura Y, Iijima M, Sesaki H.

Mol Biol Cell. 2013 Jun;24(12):1842-51. doi: 10.1091/mbc.E13-03-0125. Epub 2013 Apr 24.

14.

Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.

Havlíčková Karbanová V, Cížková Vrbacká A, Hejzlarová K, Nůsková H, Stránecký V, Potocká A, Kmoch S, Houštěk J.

Biochim Biophys Acta. 2012 Jul;1817(7):1037-43. doi: 10.1016/j.bbabio.2012.03.004. Epub 2012 Mar 10.

16.

Estimation of the mtDNA mutation rate in aging mice by proteome analysis and mathematical modeling.

Mao L, Zabel C, Wacker MA, Nebrich G, Sagi D, Schrade P, Bachmann S, Kowald A, Klose J.

Exp Gerontol. 2006 Jan;41(1):11-24. Epub 2005 Nov 22.

PMID:
16307857
17.

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

Honzík T, Tesarová M, Mayr JA, Hansíková H, Jesina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, van Coster R, Kmoch S, Houstêk J, Sperl W, Zeman J.

Arch Dis Child. 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096.

PMID:
20335238
18.

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis.

Moreadith RW, Batshaw ML, Ohnishi T, Kerr D, Knox B, Jackson D, Hruban R, Olson J, Reynafarje B, Lehninger AL.

J Clin Invest. 1984 Sep;74(3):685-97.

19.

Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption.

McKenzie M, Liolitsa D, Akinshina N, Campanella M, Sisodiya S, Hargreaves I, Nirmalananthan N, Sweeney MG, Abou-Sleiman PM, Wood NW, Hanna MG, Duchen MR.

J Biol Chem. 2007 Dec 21;282(51):36845-52. Epub 2007 Oct 16.

20.

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansíková H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houstek J, Kmoch S.

Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26.

PMID:
18953340
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk