258 related articles for article (PubMed ID: 30737337)
21. Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.
Theisen BE; Rumyantseva A; Cohen JS; Alcaraz WA; Shinde DN; Tang S; Srivastava S; Pevsner J; Trifunovic A; Fatemi A
Am J Med Genet A; 2017 Sep; 173(9):2505-2510. PubMed ID: 28650581
[TBL] [Abstract][Full Text] [Related]
22. LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.
Neyroud AS; Rudinger-Thirion J; Frugier M; Riley LG; Bidet M; Akloul L; Simpson A; Gilot D; Christodoulou J; Ravel C; Sinclair AH; Belaud-Rotureau MA; Tucker EJ; Jaillard S
Eur J Hum Genet; 2023 Apr; 31(4):453-460. PubMed ID: 36450801
[TBL] [Abstract][Full Text] [Related]
23. Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
Roux CJ; Barcia G; Schiff M; Sissler M; Levy R; Dangouloff-Ros V; Desguerre I; Edvardson S; Elpeleg O; Rötig A; Munnich A; Boddaert N
Mol Genet Metab; 2021 Jun; 133(2):222-229. PubMed ID: 33972171
[TBL] [Abstract][Full Text] [Related]
24. Mitochondrial lysyl-tRNA synthetase independent import of tRNA lysine into yeast mitochondria.
Sepuri NB; Gorla M; King MP
PLoS One; 2012; 7(4):e35321. PubMed ID: 22539966
[TBL] [Abstract][Full Text] [Related]
25. Biallelic variants in
Neurology; 2019 Nov; 93(22):982. PubMed ID: 31767665
[No Abstract] [Full Text] [Related]
26. Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.
Fine AS; Nemeth CL; Kaufman ML; Fatemi A
J Neurodev Disord; 2019 Dec; 11(1):29. PubMed ID: 31839000
[TBL] [Abstract][Full Text] [Related]
27. Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.
Li R; Guan MX
Mol Cell Biol; 2010 May; 30(9):2147-54. PubMed ID: 20194621
[TBL] [Abstract][Full Text] [Related]
28. [Analysis of perrault syndrome caused by pathogenic variants in
Lei YB; Sun SP; Mao L; Xu HE; Tang WX; Pan ZY; Lu W
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2023 Dec; 58(12):1191-1197. PubMed ID: 38186093
[No Abstract] [Full Text] [Related]
29. Biochemical comparison of the Neurospora crassa wild type and the temperature-sensitive and leucine-auxotroph mutant leu-5. Purification of the cytoplasmic and mitochondrial leucyl-tRNA synthetases and comparison of the enzymatic activities and the degradation patterns.
Kunugi S; Uehara-Kunugi Y; von der Haar F; Schischkoff J; Freist W; Englisch U; Cramer F
Eur J Biochem; 1986 Jul; 158(1):43-9. PubMed ID: 2942398
[TBL] [Abstract][Full Text] [Related]
30. Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia.
Munakata K; Iwamoto K; Bundo M; Kato T
Biol Psychiatry; 2005 Mar; 57(5):525-32. PubMed ID: 15737668
[TBL] [Abstract][Full Text] [Related]
31. First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family.
Soldà G; Caccia S; Robusto M; Chiereghin C; Castorina P; Ambrosetti U; Duga S; Asselta R
J Hum Genet; 2016 Apr; 61(4):295-300. PubMed ID: 26657938
[TBL] [Abstract][Full Text] [Related]
32. Novel Mutations in
Zafar S; Shahzad M; Ishaq R; Yousaf A; Shaikh RS; Akram J; Ahmed ZM; Riazuddin S
Genes (Basel); 2020 Aug; 11(9):. PubMed ID: 32842620
[TBL] [Abstract][Full Text] [Related]
33. Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Steenweg ME; Ghezzi D; Haack T; Abbink TE; Martinelli D; van Berkel CG; Bley A; Diogo L; Grillo E; Te Water Naudé J; Strom TM; Bertini E; Prokisch H; van der Knaap MS; Zeviani M
Brain; 2012 May; 135(Pt 5):1387-94. PubMed ID: 22492562
[TBL] [Abstract][Full Text] [Related]
34. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Zhang X; Ling J; Barcia G; Jing L; Wu J; Barry BJ; Mochida GH; Hill RS; Weimer JM; Stein Q; Poduri A; Partlow JN; Ville D; Dulac O; Yu TW; Lam AT; Servattalab S; Rodriguez J; Boddaert N; Munnich A; Colleaux L; Zon LI; Söll D; Walsh CA; Nabbout R
Am J Hum Genet; 2014 Apr; 94(4):547-58. PubMed ID: 24656866
[TBL] [Abstract][Full Text] [Related]
35. A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.
Ravel JM; Dreumont N; Mosca P; Smith DEC; Mendes MI; Wiedemann A; Coelho D; Schmitt E; Rivière JB; Tran Mau-Them F; Thevenon J; Kuentz P; Polivka M; Fuchs SA; Kok G; Thauvin-Robinet C; Guéant JL; Salomons GS; Faivre L; Feillet F
Hum Mutat; 2021 Dec; 42(12):1576-1583. PubMed ID: 34570399
[TBL] [Abstract][Full Text] [Related]
36. Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.
Kosaki R; Horikawa R; Fujii E; Kosaki K
Am J Med Genet A; 2018 Feb; 176(2):404-408. PubMed ID: 29205794
[TBL] [Abstract][Full Text] [Related]
37. Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.
Lynch DS; Zhang WJ; Lakshmanan R; Kinsella JA; Uzun GA; Karbay M; Tüfekçioglu Z; Hanagasi H; Burke G; Foulds N; Hammans SR; Bhattacharjee A; Wilson H; Adams M; Walker M; Nicoll JA; Chataway J; Fox N; Davagnanam I; Phadke R; Houlden H
JAMA Neurol; 2016 Dec; 73(12):1433-1439. PubMed ID: 27749956
[TBL] [Abstract][Full Text] [Related]
38. Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
Cappuccio G; Ceccatelli Berti C; Baruffini E; Sullivan J; Shashi V; Jewett T; Stamper T; Maitz S; Canonico F; Revah-Politi A; Kupchik GS; Anyane-Yeboa K; Aggarwal V; Benneche A; Bratland E; Berland S; D'Arco F; Alves CA; Vanderver A; Longo D; Bertini E; Torella A; Nigro V; ; D'Amico A; van der Knaap MS; Goffrini P; Brunetti-Pierri N
Hum Mutat; 2021 Jun; 42(6):745-761. PubMed ID: 33942428
[TBL] [Abstract][Full Text] [Related]
39. Identification of a Novel Variant in
Barbosa-Gouveia S; González-Vioque E; Hermida Á; Suarez MU; Martínez-González MJ; Borges F; Wintjes L; Kappen A; Rodenburg R; Couce ML
Genes (Basel); 2020 Sep; 11(9):. PubMed ID: 32887222
[TBL] [Abstract][Full Text] [Related]
40. Decreased expression of mitochondrial aminoacyl-tRNA synthetases causes downregulation of OXPHOS subunits in type 2 diabetic muscle.
López-Soldado I; Torres AG; Ventura R; Martínez-Ruiz I; Díaz-Ramos A; Planet E; Cooper D; Pazderska A; Wanic K; O'Hanlon D; O'Gorman DJ; Carbonell T; de Pouplana LR; Nolan JJ; Zorzano A; Hernández-Alvarez MI
Redox Biol; 2023 May; 61():102630. PubMed ID: 36796135
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
