188 related articles for article (PubMed ID: 30285085)
1. Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Sommerville EW; Zhou XL; Oláhová M; Jenkins J; Euro L; Konovalova S; Hilander T; Pyle A; He L; Habeebu S; Saunders C; Kelsey A; Morris AAM; McFarland R; Suomalainen A; Gorman GS; Wang ED; Thiffault I; Tyynismaa H; Taylor RW
Hum Mol Genet; 2019 Jan; 28(2):258-268. PubMed ID: 30285085
[TBL] [Abstract][Full Text] [Related]
2. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Götz A; Tyynismaa H; Euro L; Ellonen P; Hyötyläinen T; Ojala T; Hämäläinen RH; Tommiska J; Raivio T; Oresic M; Karikoski R; Tammela O; Simola KO; Paetau A; Tyni T; Suomalainen A
Am J Hum Genet; 2011 May; 88(5):635-42. PubMed ID: 21549344
[TBL] [Abstract][Full Text] [Related]
3. Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the
Kiraly-Borri C; Jevon G; Ji W; Jeffries L; Ricciardi JL; Konstantino M; Ackerman KG; Lakhani SA
Cold Spring Harb Mol Case Stud; 2019 Jun; 5(3):. PubMed ID: 30819764
[TBL] [Abstract][Full Text] [Related]
4. Overexpression of human mitochondrial alanyl-tRNA synthetase suppresses biochemical defects of the mt-tRNA
Zhao X; Han J; Zhu L; Xiao Y; Wang C; Hong F; Jiang P; Guan MX
Int J Biol Sci; 2018; 14(11):1437-1444. PubMed ID: 30262995
[TBL] [Abstract][Full Text] [Related]
5. Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Mazurova S; Magner M; Kucerova-Vidrova V; Vondrackova A; Stranecky V; Pristoupilova A; Zamecnik J; Hansikova H; Zeman J; Tesarova M; Honzik T
Cardiol Young; 2017 Jul; 27(5):936-944. PubMed ID: 27839525
[TBL] [Abstract][Full Text] [Related]
6. Novel alanyl-tRNA synthetase 2 (AARS2) homozygous mutation in a consanguineous Chinese family with premature ovarian insufficiency.
Zhou Y; Chen B; Li L; Pan H; Liu B; Li T; Wang R; Ma X; Wang B; Cao Y
Fertil Steril; 2019 Sep; 112(3):569-576.e2. PubMed ID: 31280959
[TBL] [Abstract][Full Text] [Related]
7. Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R; Szklarczyk R; Theunissen TE; Hellebrekers DMEI; Sallevelt SCEH; Boesten IB; de Koning B; van den Bosch BJ; Salomons GS; Simas-Mendes M; Verdijk R; Schoonderwoerd K; de Coo IFM; Vanoevelen JM; Smeets HJM
Eur J Hum Genet; 2018 Apr; 26(4):537-551. PubMed ID: 29440775
[TBL] [Abstract][Full Text] [Related]
8. Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy.
Fan Y; Han J; Yang Y; Chen T
BMC Neurol; 2022 Jun; 22(1):214. PubMed ID: 35676634
[TBL] [Abstract][Full Text] [Related]
9. Novel (ovario) leukodystrophy related to AARS2 mutations.
Dallabona C; Diodato D; Kevelam SH; Haack TB; Wong LJ; Salomons GS; Baruffini E; Melchionda L; Mariotti C; Strom TM; Meitinger T; Prokisch H; Chapman K; Colley A; Rocha H; Ounap K; Schiffmann R; Salsano E; Savoiardo M; Hamilton EM; Abbink TE; Wolf NI; Ferrero I; Lamperti C; Zeviani M; Vanderver A; Ghezzi D; van der Knaap MS
Neurology; 2014 Jun; 82(23):2063-71. PubMed ID: 24808023
[TBL] [Abstract][Full Text] [Related]
10. A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord.
Song C; Peng L; Wang S; Liu Y
J Hum Genet; 2019 Oct; 64(10):979-983. PubMed ID: 31388113
[TBL] [Abstract][Full Text] [Related]
11. AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.
Tang Y; Qin Q; Xing Y; Guo D; Di L; Jia J
Mol Genet Genomic Med; 2019 Apr; 7(4):e00582. PubMed ID: 30706699
[TBL] [Abstract][Full Text] [Related]
12. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
Almalki A; Alston CL; Parker A; Simonic I; Mehta SG; He L; Reza M; Oliveira JM; Lightowlers RN; McFarland R; Taylor RW; Chrzanowska-Lightowlers ZM
Biochim Biophys Acta; 2014 Jan; 1842(1):56-64. PubMed ID: 24161539
[TBL] [Abstract][Full Text] [Related]
13. Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy.
Kuo ME; Antonellis A; Shakkottai VG
Cerebellum; 2020 Feb; 19(1):154-160. PubMed ID: 31705293
[TBL] [Abstract][Full Text] [Related]
14. Gait Apraxia with Exaggerated Upper Limb Movements as Presentation of AARS2 Related Leukoencephalopathy.
Chakraborty AP; Mukherjee A; Bhattacharyya A; Bhattacharyya D; Ray BK; Biswas A
Tremor Other Hyperkinet Mov (N Y); 2022; 12():24. PubMed ID: 35975211
[TBL] [Abstract][Full Text] [Related]
15. Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.
Felhi R; Charif M; Sfaihi L; Mkaouar-Rebai E; Desquiret-Dumas V; Kallel R; Bris C; Goudenège D; Guichet A; Bonneau D; Procaccio V; Reynier P; Amati-Bonneau P; Hachicha M; Fakhfakh F; Lenaers G
Mol Biol Rep; 2020 May; 47(5):3779-3787. PubMed ID: 32319008
[TBL] [Abstract][Full Text] [Related]
16. Expansion of the clinical spectrum associated with AARS2-related disorders.
Srivastava S; Butala A; Mahida S; Richter J; Mu W; Poretti A; Vernon H; VanGerpen J; Atwal PS; Middlebrooks EH; Zee DS; Naidu S
Am J Med Genet A; 2019 Aug; 179(8):1556-1564. PubMed ID: 31099476
[TBL] [Abstract][Full Text] [Related]
17. PCBP1 regulates alternative splicing of AARS2 in congenital cardiomyopathy.
Lu YW; Liang Z; Guo H; Fernandes T; Espinoza-Lewis RA; Wang T; Li K; Li X; Singh GB; Wang Y; Cowan D; Mably JD; Philpott CC; Chen H; Wang DZ
bioRxiv; 2023 May; ():. PubMed ID: 37293078
[TBL] [Abstract][Full Text] [Related]
18. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
Carroll CJ; Isohanni P; Pöyhönen R; Euro L; Richter U; Brilhante V; Götz A; Lahtinen T; Paetau A; Pihko H; Battersby BJ; Tyynismaa H; Suomalainen A
J Med Genet; 2013 Mar; 50(3):151-9. PubMed ID: 23315540
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. An adolescence-onset male leukoencephalopathy with remarkable cerebellar atrophy and novel compound heterozygous AARS2 gene mutations: a case report.
Dong Q; Long L; Chang YY; Lin YJ; Liu M; Lu ZQ
J Hum Genet; 2018 Jul; 63(7):841-846. PubMed ID: 29666464
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]