479 related articles for article (PubMed ID: 29576219)
1. 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]
2. 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]
3. 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]
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. New description of an MRPS2 homozygous patient: Further features to help expend the phenotype.
Papadopoulos T; Gaignard P; Schiff M; Rio M; Karall D; Legendre A; Verloes A; Ruaud L
Eur J Med Genet; 2024 Feb; 67():104889. PubMed ID: 38029925
[TBL] [Abstract][Full Text] [Related]
6. Hypoglycemia with lactic acidosis caused by a new MRPS2 gene mutation in a Chinese girl: a case report.
Liu C; Zhou W; Liu Q; Peng Z
BMC Endocr Disord; 2022 Jan; 22(1):15. PubMed ID: 34991560
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
Smits P; Mattijssen S; Morava E; van den Brand M; van den Brandt F; Wijburg F; Pruijn G; Smeitink J; Nijtmans L; Rodenburg R; van den Heuvel L
Eur J Hum Genet; 2010 Mar; 18(3):324-9. PubMed ID: 19809478
[TBL] [Abstract][Full Text] [Related]
10. MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
Baertling F; Haack TB; Rodenburg RJ; Schaper J; Seibt A; Strom TM; Meitinger T; Mayatepek E; Hadzik B; Selcan G; Prokisch H; Distelmaier F
Neurogenetics; 2015 Jul; 16(3):237-40. PubMed ID: 25663021
[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 the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
Blok MJ; Spruijt L; de Coo IF; Schoonderwoerd K; Hendrickx A; Smeets HJ
J Med Genet; 2007 Apr; 44(4):e74. PubMed ID: 17400793
[TBL] [Abstract][Full Text] [Related]
13. Parallel Structural Evolution of Mitochondrial Ribosomes and OXPHOS Complexes.
van der Sluis EO; Bauerschmitt H; Becker T; Mielke T; Frauenfeld J; Berninghausen O; Neupert W; Herrmann JM; Beckmann R
Genome Biol Evol; 2015 Apr; 7(5):1235-51. PubMed ID: 25861818
[TBL] [Abstract][Full Text] [Related]
14. Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.
Friederich MW; Geddes GC; Wortmann SB; Punnoose A; Wartchow E; Knight KM; Prokisch H; Creadon-Swindell G; Mayr JA; Van Hove JLK
Mol Genet Metab; 2021 Aug; 133(4):362-371. PubMed ID: 34140213
[TBL] [Abstract][Full Text] [Related]
15. Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
Smits P; Antonicka H; van Hasselt PM; Weraarpachai W; Haller W; Schreurs M; Venselaar H; Rodenburg RJ; Smeitink JA; van den Heuvel LP
Eur J Hum Genet; 2011 Mar; 19(3):275-9. PubMed ID: 21119709
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome.
Hock DH; Robinson DRL; Stroud DA
Biochem J; 2020 Nov; 477(21):4085-4132. PubMed ID: 33151299
[TBL] [Abstract][Full Text] [Related]
18.
Thompson K; Mai N; Oláhová M; Scialó F; Formosa LE; Stroud DA; Garrett M; Lax NZ; Robertson FM; Jou C; Nascimento A; Ortez C; Jimenez-Mallebrera C; Hardy SA; He L; Brown GK; Marttinen P; McFarland R; Sanz A; Battersby BJ; Bonnen PE; Ryan MT; Chrzanowska-Lightowlers ZM; Lightowlers RN; Taylor RW
EMBO Mol Med; 2018 Nov; 10(11):. PubMed ID: 30201738
[TBL] [Abstract][Full Text] [Related]
19. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation.
Miller C; Saada A; Shaul N; Shabtai N; Ben-Shalom E; Shaag A; Hershkovitz E; Elpeleg O
Ann Neurol; 2004 Nov; 56(5):734-8. PubMed ID: 15505824
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
