208 related articles for article (PubMed ID: 30566640)
1. Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvement.
Pulman J; Ruzzenente B; Bianchi L; Rio M; Boddaert N; Munnich A; Rötig A; Metodiev MD
Hum Mol Genet; 2019 May; 28(9):1445-1462. PubMed ID: 30566640
[TBL] [Abstract][Full Text] [Related]
2. Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Gardeitchik T; Mohamed M; Ruzzenente B; Karall D; Guerrero-Castillo S; Dalloyaux D; van den Brand M; van Kraaij S; van Asbeck E; Assouline Z; Rio M; de Lonlay P; Scholl-Buergi S; Wolthuis DFGJ; Hoischen A; Rodenburg RJ; Sperl W; Urban Z; Brandt U; Mayr JA; Wong S; de Brouwer APM; Nijtmans L; Munnich A; Rötig A; Wevers RA; Metodiev MD; Morava E
Am J Hum Genet; 2018 Apr; 102(4):685-695. PubMed ID: 29576219
[TBL] [Abstract][Full Text] [Related]
3. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ; Webb BD; Stroud DA; Richman TR; Ruzzenente B; Compton AG; Mountford HS; Pulman J; Zangarelli C; Rio M; Boddaert N; Assouline Z; Sherpa MD; Schadt EE; Houten SM; Byrnes J; McCormick EM; Zolkipli-Cunningham Z; Haude K; Zhang Z; Retterer K; Bai R; Calvo SE; Mootha VK; Christodoulou J; Rötig A; Filipovska A; Cristian I; Falk MJ; Metodiev MD; Thorburn DR
Am J Hum Genet; 2017 Aug; 101(2):239-254. PubMed ID: 28777931
[TBL] [Abstract][Full Text] [Related]
4. Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes MJ; Guo Y; Zhang J; Riley LG; Cooper ST; Thorburn DR; Li J; Dong D; Li Z; Glessner J; Davis RL; Sue CM; Alexander SI; Arbuckle S; Kirwan P; Keating BJ; Xu X; Hakonarson H; Christodoulou J
Hum Mol Genet; 2015 Apr; 24(8):2297-307. PubMed ID: 25556185
[TBL] [Abstract][Full Text] [Related]
5. MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
Bugiardini E; Mitchell AL; Rosa ID; Horning-Do HT; Pitmann AM; Poole OV; Holton JL; Shah S; Woodward C; Hargreaves I; Quinlivan R; Amunts A; Wiesner RJ; Houlden H; Holt IJ; Hanna MG; Pitceathly RDS; Spinazzola A
Hum Mol Genet; 2019 Aug; 28(16):2711-2719. PubMed ID: 31039582
[TBL] [Abstract][Full Text] [Related]
6. Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Amarasekera SSC; Hock DH; Lake NJ; Calvo SE; Grønborg SW; Krzesinski EI; Amor DJ; Fahey MC; Simons C; Wibrand F; Mootha VK; Lek M; Lunke S; Stark Z; Østergaard E; Christodoulou J; Thorburn DR; Stroud DA; Compton AG
Hum Mol Genet; 2023 Jul; 32(15):2441-2454. PubMed ID: 37133451
[TBL] [Abstract][Full Text] [Related]
7. Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
Smits P; Saada A; Wortmann SB; Heister AJ; Brink M; Pfundt R; Miller C; Haas D; Hantschmann R; Rodenburg RJ; Smeitink JA; van den Heuvel LP
Eur J Hum Genet; 2011 Apr; 19(4):394-9. PubMed ID: 21189481
[TBL] [Abstract][Full Text] [Related]
8. Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency.
Serre V; Rozanska A; Beinat M; Chretien D; Boddaert N; Munnich A; Rötig A; Chrzanowska-Lightowlers ZM
Biochim Biophys Acta; 2013 Aug; 1832(8):1304-12. PubMed ID: 23603806
[TBL] [Abstract][Full Text] [Related]
9. Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
Peralta S; González-Quintana A; Ybarra M; Delmiro A; Pérez-Pérez R; Docampo J; Arenas J; Blázquez A; Ugalde C; Martín MA
Mol Genet Metab; 2019 Dec; 128(4):452-462. PubMed ID: 31727539
[TBL] [Abstract][Full Text] [Related]
10. Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.
Horga A; Manole A; Mitchell AL; Bugiardini E; Hargreaves IP; Mowafi W; Bettencourt C; Blakely EL; He L; Polke JM; Woodward CE; Dalla Rosa I; Shah S; Pittman AM; Quinlivan R; Reilly MM; Taylor RW; Holt IJ; Hanna MG; Pitceathly RDS; Spinazzola A; Houlden H
Mol Biol Rep; 2021 Mar; 48(3):2093-2104. PubMed ID: 33742325
[TBL] [Abstract][Full Text] [Related]
11. An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
Janer A; Antonicka H; Lalonde E; Nishimura T; Sasarman F; Brown GK; Brown RM; Majewski J; Shoubridge EA
Am J Hum Genet; 2012 Oct; 91(4):737-43. PubMed ID: 23022098
[TBL] [Abstract][Full Text] [Related]
12. Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency.
Wei X; Du M; Li D; Wen S; Xie J; Li Y; Chen A; Zhang K; Xu P; Jia M; Wen C; Zhou H; Lyu J; Yang Y; Fang H
Hum Mutat; 2020 May; 41(5):961-972. PubMed ID: 31944455
[TBL] [Abstract][Full Text] [Related]
13. The effect of small molecules on nuclear-encoded translation diseases.
Soiferman D; Ayalon O; Weissman S; Saada A
Biochimie; 2014 May; 100():184-91. PubMed ID: 24012549
[TBL] [Abstract][Full Text] [Related]
14. Derivatives of the yeast mitochondrial ribosomal protein MrpS28 replace ribosomal protein S15 as functional components of the Escherichia coli ribosome.
Li Y; Huff MO; Hanic-Joyce PJ; Ellis SR
J Mol Biol; 1993 Oct; 233(4):606-14. PubMed ID: 8411168
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
Tucker EJ; Wanschers BF; Szklarczyk R; Mountford HS; Wijeyeratne XW; van den Brand MA; Leenders AM; Rodenburg RJ; Reljić B; Compton AG; Frazier AE; Bruno DL; Christodoulou J; Endo H; Ryan MT; Nijtmans LG; Huynen MA; Thorburn DR
PLoS Genet; 2013; 9(12):e1004034. PubMed ID: 24385928
[TBL] [Abstract][Full Text] [Related]
16. TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia.
Balkin DM; Poranki M; Forester CM; Dorsey MJ; Slavotinek A; Pomerantz JH
Mol Genet Genomic Med; 2019 Sep; 7(9):e818. PubMed ID: 31350873
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 21786366
[TBL] [Abstract][Full Text] [Related]
18. Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.
Ruzzenente B; Assouline Z; Barcia G; Rio M; Boddaert N; Munnich A; Rötig A; Metodiev MD
Hum Mutat; 2018 Dec; 39(12):2047-2059. PubMed ID: 30252186
[TBL] [Abstract][Full Text] [Related]
19. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Feichtinger RG; Oláhová M; Kishita Y; Garone C; Kremer LS; Yagi M; Uchiumi T; Jourdain AA; Thompson K; D'Souza AR; Kopajtich R; Alston CL; Koch J; Sperl W; Mastantuono E; Strom TM; Wortmann SB; Meitinger T; Pierre G; Chinnery PF; Chrzanowska-Lightowlers ZM; Lightowlers RN; DiMauro S; Calvo SE; Mootha VK; Moggio M; Sciacco M; Comi GP; Ronchi D; Murayama K; Ohtake A; Rebelo-Guiomar P; Kohda M; Kang D; Mayr JA; Taylor RW; Okazaki Y; Minczuk M; Prokisch H
Am J Hum Genet; 2017 Oct; 101(4):525-538. PubMed ID: 28942965
[TBL] [Abstract][Full Text] [Related]
20. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
Smeitink JA; Elpeleg O; Antonicka H; Diepstra H; Saada A; Smits P; Sasarman F; Vriend G; Jacob-Hirsch J; Shaag A; Rechavi G; Welling B; Horst J; Rodenburg RJ; van den Heuvel B; Shoubridge EA
Am J Hum Genet; 2006 Nov; 79(5):869-77. PubMed ID: 17033963
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]