137 related articles for article (PubMed ID: 31355908)
1. FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.
Krenke K; Szczałuba K; Bielecka T; Rydzanicz M; Lange J; Koppolu A; Płoski R
Clin Genet; 2019 Nov; 96(5):468-472. PubMed ID: 31355908
[TBL] [Abstract][Full Text] [Related]
2. Homozygosity for FARSB mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease.
Zadjali F; Al-Yahyaee A; Al-Nabhani M; Al-Mubaihsi S; Gujjar A; Raniga S; Al-Maawali A
Hum Mutat; 2018 Oct; 39(10):1355-1359. PubMed ID: 30014610
[TBL] [Abstract][Full Text] [Related]
3. Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review.
Guo R; Chen Y; Hu X; Qi Z; Guo J; Li Y; Hao C
BMC Med Genomics; 2023 Oct; 16(1):245. PubMed ID: 37833669
[TBL] [Abstract][Full Text] [Related]
4. Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.
Antonellis A; Oprescu SN; Griffin LB; Heider A; Amalfitano A; Innis JW
Hum Mutat; 2018 Jun; 39(6):834-840. PubMed ID: 29573043
[TBL] [Abstract][Full Text] [Related]
5. FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!
Schuch LA; Forstner M; Rapp CK; Li Y; Smith DEC; Mendes MI; Delhommel F; Sattler M; Emiralioğlu N; Taskiran EZ; Orhan D; Kiper N; Rohlfs M; Jeske T; Hastreiter M; Gerstlauer M; Torrent-Vernetta A; Moreno-Galdó A; Kammer B; Brasch F; Reu-Hofer S; Griese M
Clin Genet; 2021 Jun; 99(6):789-801. PubMed ID: 33598926
[TBL] [Abstract][Full Text] [Related]
6. Fatal systemic disorder caused by biallelic variants in FARSA.
Kim SY; Ko S; Kang H; Kim MJ; Moon J; Lim BC; Kim KJ; Choi M; Choi HJ; Chae JH
Orphanet J Rare Dis; 2022 Aug; 17(1):306. PubMed ID: 35918773
[TBL] [Abstract][Full Text] [Related]
7. Systemic inflammatory syndrome in children with FARSA deficiency.
Charbit-Henrion F; Goguyer-Deschaumes R; Borensztajn K; Mirande M; Berthelet J; Rodrigues-Lima F; Khiat A; Frémond ML; Bader-Meunier B; Rodari MM; Seabra L; Rice GI; Legendre M; Drummond D; Berteloot L; Roux CJ; Boddaert N; Drabent P; Molina TJ; Lacaille F; Kossorotoff M; Cerf-Bensussan N; Parlato M; Hadchouel A
Clin Genet; 2022 May; 101(5-6):552-558. PubMed ID: 35132614
[TBL] [Abstract][Full Text] [Related]
8. Impaired affinity for phenylalanine in Escherichia coli phenylalanyl-tRNA synthetase mutant caused by Gly-to-Asp exchange in motif 2 of class II tRNA synthetases.
Kast P; Wehrli C; Hennecke H
FEBS Lett; 1991 Nov; 293(1-2):160-3. PubMed ID: 1959653
[TBL] [Abstract][Full Text] [Related]
9. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Elo JM; Yadavalli SS; Euro L; Isohanni P; Götz A; Carroll CJ; Valanne L; Alkuraya FS; Uusimaa J; Paetau A; Caruso EM; Pihko H; Ibba M; Tyynismaa H; Suomalainen A
Hum Mol Genet; 2012 Oct; 21(20):4521-9. PubMed ID: 22833457
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Amino acid substrate specificity of Escherichia coli phenylalanyl-tRNA synthetase altered by distinct mutations.
Kast P; Hennecke H
J Mol Biol; 1991 Nov; 222(1):99-124. PubMed ID: 1942071
[TBL] [Abstract][Full Text] [Related]
12. Crystal structures of phenylalanyl-tRNA synthetase complexed with phenylalanine and a phenylalanyl-adenylate analogue.
Reshetnikova L; Moor N; Lavrik O; Vassylyev DG
J Mol Biol; 1999 Apr; 287(3):555-68. PubMed ID: 10092459
[TBL] [Abstract][Full Text] [Related]
13. Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.
Xu Z; Lo WS; Beck DB; Schuch LA; Oláhová M; Kopajtich R; Chong YE; Alston CL; Seidl E; Zhai L; Lau CF; Timchak D; LeDuc CA; Borczuk AC; Teich AF; Juusola J; Sofeso C; Müller C; Pierre G; Hilliard T; Turnpenny PD; Wagner M; Kappler M; Brasch F; Bouffard JP; Nangle LA; Yang XL; Zhang M; Taylor RW; Prokisch H; Griese M; Chung WK; Schimmel P
Am J Hum Genet; 2018 Jul; 103(1):100-114. PubMed ID: 29979980
[TBL] [Abstract][Full Text] [Related]
14. α-Phenylalanyl tRNA synthetase competes with Notch signaling through its N-terminal domain.
Ho MT; Lu J; Vazquez-Pianzola P; Suter B
PLoS Genet; 2022 Apr; 18(4):e1010185. PubMed ID: 35486661
[TBL] [Abstract][Full Text] [Related]
15. Evolution of aminoacyl-tRNA synthetase quaternary structure and activity: Saccharomyces cerevisiae mitochondrial phenylalanyl-tRNA synthetase.
Sanni A; Walter P; Boulanger Y; Ebel JP; Fasiolo F
Proc Natl Acad Sci U S A; 1991 Oct; 88(19):8387-91. PubMed ID: 1924298
[TBL] [Abstract][Full Text] [Related]
16. Identification, cloning, and expression of a functional phenylalanyl-tRNA synthetase (pheRS) from Staphylococcus aureus.
Savopoulos JW; Hibbs M; Jones EJ; Mensah L; Richardson C; Fosberry A; Downes R; Fox SG; Brown JR; Jenkins O
Protein Expr Purif; 2001 Apr; 21(3):470-84. PubMed ID: 11281723
[TBL] [Abstract][Full Text] [Related]
17. Exploring the binding sites of Staphylococcus aureus phenylalanine tRNA synthetase: A homology model approach.
Elbaramawi SS; Ibrahim SM; Lashine EM; El-Sadek ME; Mantzourani E; Simons C
J Mol Graph Model; 2017 May; 73():36-47. PubMed ID: 28235746
[TBL] [Abstract][Full Text] [Related]
18. MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.
Rips J; Meyer-Schuman R; Breuer O; Tsabari R; Shaag A; Revel-Vilk S; Reif S; Elpeleg O; Antonellis A; Harel T
Eur J Med Genet; 2018 Oct; 61(10):616-620. PubMed ID: 29655802
[TBL] [Abstract][Full Text] [Related]
19. Overexpression of mammalian phenylalanyl-tRNA synthetase upon phenylalanine restriction.
Lazard M; Mirande M; Waller JP
FEBS Lett; 1987 May; 216(1):27-30. PubMed ID: 3582665
[TBL] [Abstract][Full Text] [Related]
20. Structural and mutational studies of the amino acid-editing domain from archaeal/eukaryal phenylalanyl-tRNA synthetase.
Sasaki HM; Sekine S; Sengoku T; Fukunaga R; Hattori M; Utsunomiya Y; Kuroishi C; Kuramitsu S; Shirouzu M; Yokoyama S
Proc Natl Acad Sci U S A; 2006 Oct; 103(40):14744-9. PubMed ID: 17003130
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
