72 related articles for article (PubMed ID: 21815885)
1. Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
Tort F; Del Toro M; Lissens W; Montoya J; Fernàndez-Burriel M; Font A; Buján N; Navarro-Sastre A; López-Gallardo E; Arranz JA; Riudor E; Briones P; Ribes A
Clin Genet; 2011 Sep; 80(3):297-300. PubMed ID: 21815885
[No Abstract] [Full Text] [Related]
2. 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. PubMed ID: 21147908
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 20920610
[TBL] [Abstract][Full Text] [Related]
4. 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; 101(2-3):282-5. PubMed ID: 20728387
[TBL] [Abstract][Full Text] [Related]
5. Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes.
Stojanović V; Doronjski A
J Pediatr Endocrinol Metab; 2013; 26(1-2):151-4. PubMed ID: 23382305
[TBL] [Abstract][Full Text] [Related]
6. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
Mayr JA; Havlícková V; Zimmermann F; Magler I; Kaplanová V; Jesina P; Pecinová A; Nusková H; Koch J; Sperl W; Houstek J
Hum Mol Genet; 2010 Sep; 19(17):3430-9. PubMed ID: 20566710
[TBL] [Abstract][Full Text] [Related]
7. A novel deficiency of mitochondrial ATPase of nuclear origin.
Houstek J; Klement P; Floryk D; Antonická H; Hermanská J; Kalous M; Hansíková H; Hout'ková H; Chowdhury SK; Rosipal T; Kmoch S; Stratilová L; Zeman J
Hum Mol Genet; 1999 Oct; 8(11):1967-74. PubMed ID: 10484764
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 22986587
[TBL] [Abstract][Full Text] [Related]
9. Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria.
Holme E; Greter J; Jacobson CE; Larsson NG; Lindstedt S; Nilsson KO; Oldfors A; Tulinius M
Pediatr Res; 1992 Dec; 32(6):731-5. PubMed ID: 1287564
[TBL] [Abstract][Full Text] [Related]
10. TMEM70 deficiency: long-term outcome of 48 patients.
Magner M; Dvorakova V; Tesarova M; Mazurova S; Hansikova H; Zahorec M; Brennerova K; Bzduch V; Spiegel R; Horovitz Y; Mandel H; Eminoğlu FT; Mayr JA; Koch J; Martinelli D; Bertini E; Konstantopoulou V; Smet J; Rahman S; Broomfield A; Stojanović V; Dionisi-Vici C; van Coster R; Morava E; Sperl W; Zeman J; Honzik T
J Inherit Metab Dis; 2015 May; 38(3):417-26. PubMed ID: 25326274
[TBL] [Abstract][Full Text] [Related]
11. 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. PubMed ID: 20335238
[TBL] [Abstract][Full Text] [Related]
12. 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):353-359. PubMed ID: 24485043
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 19103153
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 18953340
[TBL] [Abstract][Full Text] [Related]
15. 3-Methylglutaconic aciduria: a new variant.
Zeharia A; Elpeleg ON; Mukamel M; Weitz R; Ariel R; Mimouni M
Pediatrics; 1992 Jun; 89(6 Pt 1):1080-2. PubMed ID: 1594352
[TBL] [Abstract][Full Text] [Related]
16. ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.
Braczynski AK; Vlaho S; Müller K; Wittig I; Blank AE; Tews DS; Drott U; Kleinle S; Abicht A; Horvath R; Plate KH; Stenzel W; Goebel HH; Schulze A; Harter PN; Kieslich M; Mittelbronn M
Biomed Res Int; 2015; 2015():462592. PubMed ID: 26550569
[TBL] [Abstract][Full Text] [Related]
17. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Wortmann S; Rodenburg RJ; Huizing M; Loupatty FJ; de Koning T; Kluijtmans LA; Engelke U; Wevers R; Smeitink JA; Morava E
Mol Genet Metab; 2006 May; 88(1):47-52. PubMed ID: 16527507
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 21945727
[TBL] [Abstract][Full Text] [Related]
19. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
Davey KM; Parboosingh JS; McLeod DR; Chan A; Casey R; Ferreira P; Snyder FF; Bridge PJ; Bernier FP
J Med Genet; 2006 May; 43(5):385-93. PubMed ID: 16055927
[TBL] [Abstract][Full Text] [Related]
20. [Diseases caused by mutations in mitochondrial DNA].
Wojewoda M; Zabłocki K; Szczepanowska J
Postepy Biochem; 2011; 57(2):222-9. PubMed ID: 21913424
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
