Similar articles for PMID: 18953340

Year	Number of Results
1993	2
1995	3
1996	4
1997	6
1998	4
1999	3
2000	5
2001	3
2002	1
2003	1
2004	2
2006	5
2007	6
2008	15
2009	21
2010	8
2011	6
2012	5
2013	8
2014	7
2015	7
2016	5
2017	5
2018	3
2019	4
2020	4
2021	2
2022	2
2023	1
2024	0

1

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. Cízková A, et al. Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953340

2

Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.

Mackay L, Gijavanekar C, Streff H, Price JF, Elsea SH, Scaglia F. Mackay L, et al. Am J Med Genet A. 2023 May;191(5):1366-1372. doi: 10.1002/ajmg.a.63131. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751706

3

Genetic Complementation of ATP Synthase Deficiency Due to Dysfunction of TMEM70 Assembly Factor in Rat.

Marković A, Tauchmannová K, Šimáková M, Mlejnek P, Kaplanová V, Pecina P, Pecinová A, Papoušek F, Liška F, Šilhavý J, Mikešová J, Neckář J, Houštěk J, Pravenec M, Mráček T. Marković A, et al. Biomedicines. 2022 Jan 26;10(2):276. doi: 10.3390/biomedicines10020276. Biomedicines. 2022. PMID: 35203486 Free PMC article.

4

End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants.

Wilcox NS, Prenner SB, Cevasco M, Condit C, Goldstein A, Peterson JT, Tondi Resta I, Palmer M, Lal P, Owens AT, Pieretti J, Drivas TG, Reza N. Wilcox NS, et al. Circ Genom Precis Med. 2022 Apr;15(2):e003559. doi: 10.1161/CIRCGEN.121.003559. Epub 2022 Feb 4. Circ Genom Precis Med. 2022. PMID: 35119291 Free PMC article. No abstract available.

5

TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I.

Carroll J, He J, Ding S, Fearnley IM, Walker JE. Carroll J, et al. Proc Natl Acad Sci U S A. 2021 Mar 30;118(13):e2100558118. doi: 10.1073/pnas.2100558118. Proc Natl Acad Sci U S A. 2021. PMID: 33753518 Free PMC article.

6

TMEM70 forms oligomeric scaffolds within mitochondrial cristae promoting in situ assembly of mammalian ATP synthase proton channel.

Bahri H, Buratto J, Rojo M, Dompierre JP, Salin B, Blancard C, Cuvellier S, Rose M, Ben Ammar Elgaaied A, Tetaud E, di Rago JP, Devin A, Duvezin-Caubet S. Bahri H, et al. Biochim Biophys Acta Mol Cell Res. 2021 Apr;1868(4):118942. doi: 10.1016/j.bbamcr.2020.118942. Epub 2020 Dec 23. Biochim Biophys Acta Mol Cell Res. 2021. PMID: 33359711 Free article.

7

In Silico Repurposing of J147 for Neonatal Encephalopathy Treatment: Exploring Molecular Mechanisms of Mutant Mitochondrial ATP Synthase.

Emmanuel IA, Olotu FA, Agoni C, Soliman MES. Emmanuel IA, et al. Curr Pharm Biotechnol. 2020;21(14):1551-1566. doi: 10.2174/1389201021666200628152246. Curr Pharm Biotechnol. 2020. PMID: 32598251

8

TMEM70 functions in the assembly of complexes I and V.

Sánchez-Caballero L, Elurbe DM, Baertling F, Guerrero-Castillo S, van den Brand M, van Strien J, van Dam TJP, Rodenburg R, Brandt U, Huynen MA, Nijtmans LGJ. Sánchez-Caballero L, et al. Biochim Biophys Acta Bioenerg. 2020 Aug 1;1861(8):148202. doi: 10.1016/j.bbabio.2020.148202. Epub 2020 Apr 7. Biochim Biophys Acta Bioenerg. 2020. PMID: 32275929 Free article.

9

Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.

Baban A, Adorisio R, Corica B, Rizzo C, Calì F, Semeraro M, Taurisano R, Magliozzi M, Carrozzo R, Parisi F, Dallapiccola B, Vaz FM, Drago F, Dionisi-Vici C. Baban A, et al. Am J Med Genet A. 2020 Jan;182(1):64-70. doi: 10.1002/ajmg.a.61383. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729175

10

TMEM70 facilitates biogenesis of mammalian ATP synthase by promoting subunit c incorporation into the rotor structure of the enzyme.

Kovalčíkova J, Vrbacký M, Pecina P, Tauchmannová K, Nůsková H, Kaplanová V, Brázdová A, Alán L, Eliáš J, Čunátová K, Kořínek V, Sedlacek R, Mráček T, Houštěk J. Kovalčíkova J, et al. FASEB J. 2019 Dec;33(12):14103-14117. doi: 10.1096/fj.201900685RR. Epub 2019 Oct 25. FASEB J. 2019. PMID: 31652072

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