212 related articles for article (PubMed ID: 29979980)
1. 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]
2. 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]
3. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Kuo ME; Theil AF; Kievit A; Malicdan MC; Introne WJ; Christian T; Verheijen FW; Smith DEC; Mendes MI; Hussaarts-Odijk L; van der Meijden E; van Slegtenhorst M; Wilke M; Vermeulen W; Raams A; Groden C; Shimada S; Meyer-Schuman R; Hou YM; Gahl WA; Antonellis A; Salomons GS; Mancini GMS
Am J Hum Genet; 2019 Mar; 104(3):520-529. PubMed ID: 30824121
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.
Meyer-Schuman R; Antonellis A
Hum Mol Genet; 2017 Oct; 26(R2):R114-R127. PubMed ID: 28633377
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.
Wei N; Zhang Q; Yang XL
J Biol Chem; 2019 Apr; 294(14):5321-5339. PubMed ID: 30643024
[TBL] [Abstract][Full Text] [Related]
8. Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Stephen J; Nampoothiri S; Banerjee A; Tolman NJ; Penninger JM; Elling U; Agu CA; Burke JD; Devadathan K; Kannan R; Huang Y; Steinbach PJ; Martinis SA; Gahl WA; Malicdan MCV
Hum Genet; 2018 Apr; 137(4):293-303. PubMed ID: 29691655
[TBL] [Abstract][Full Text] [Related]
9. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
Weterman MAJ; Kuo M; Kenter SB; Gordillo S; Karjosukarso DW; Takase R; Bronk M; Oprescu S; van Ruissen F; Witteveen RJW; Bienfait HME; Breuning M; Verhamme C; Hou YM; de Visser M; Antonellis A; Baas F
Hum Mol Genet; 2018 Dec; 27(23):4036-4050. PubMed ID: 30124830
[TBL] [Abstract][Full Text] [Related]
10. Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
Mendes MI; Gutierrez Salazar M; Guerrero K; Thiffault I; Salomons GS; Gauquelin L; Tran LT; Forget D; Gauthier MS; Waisfisz Q; Smith DEC; Simons C; van der Knaap MS; Marquardt I; Lemes A; Mierzewska H; Weschke B; Koehler W; Coulombe B; Wolf NI; Bernard G
Am J Hum Genet; 2018 Apr; 102(4):676-684. PubMed ID: 29576217
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations.
Wallen RC; Antonellis A
Curr Opin Genet Dev; 2013 Jun; 23(3):302-9. PubMed ID: 23465884
[TBL] [Abstract][Full Text] [Related]
13. An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations.
Stum M; McLaughlin HM; Kleinbrink EL; Miers KE; Ackerman SL; Seburn KL; Antonellis A; Burgess RW
Mol Cell Neurosci; 2011 Feb; 46(2):432-43. PubMed ID: 21115117
[TBL] [Abstract][Full Text] [Related]
14. CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells.
Blocquel D; Sun L; Matuszek Z; Li S; Weber T; Kuhle B; Kooi G; Wei N; Baets J; Pan T; Schimmel P; Yang XL
Proc Natl Acad Sci U S A; 2019 Sep; 116(39):19440-19448. PubMed ID: 31501329
[TBL] [Abstract][Full Text] [Related]
15. Human diseases linked to cytoplasmic aminoacyl-tRNA synthetases.
Jiang L; Jones J; Yang XL
Enzymes; 2020; 48():277-319. PubMed ID: 33837707
[TBL] [Abstract][Full Text] [Related]
16. Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.
Storkebaum E
Bioessays; 2016 Sep; 38(9):818-29. PubMed ID: 27352040
[TBL] [Abstract][Full Text] [Related]
17. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A; Efthymiou S; O'Connor E; Mendes MI; Jennings M; Maroofian R; Davagnanam I; Mankad K; Lopez MR; Salpietro V; Harripaul R; Badalato L; Walia J; Francklyn CS; Athanasiou-Fragkouli A; Sullivan R; Desai S; Baranano K; Zafar F; Rana N; Ilyas M; Horga A; Kara M; Mattioli F; Goldenberg A; Griffin H; Piton A; Henderson LB; Kara B; Aslanger AD; Raaphorst J; Pfundt R; Portier R; Shinawi M; Kirby A; Christensen KM; Wang L; Rosti RO; Paracha SA; Sarwar MT; Jenkins D; ; Ahmed J; Santoni FA; Ranza E; Iwaszkiewicz J; Cytrynbaum C; Weksberg R; Wentzensen IM; Guillen Sacoto MJ; Si Y; Telegrafi A; Andrews MV; Baldridge D; Gabriel H; Mohr J; Oehl-Jaschkowitz B; Debard S; Senger B; Fischer F; van Ravenwaaij C; Fock AJM; Stevens SJC; Bähler J; Nasar A; Mantovani JF; Manzur A; Sarkozy A; Smith DEC; Salomons GS; Ahmed ZM; Riazuddin S; Riazuddin S; Usmani MA; Seibt A; Ansar M; Antonarakis SE; Vincent JB; Ayub M; Grimmel M; Jelsig AM; Hjortshøj TD; Karstensen HG; Hummel M; Haack TB; Jamshidi Y; Distelmaier F; Horvath R; Gleeson JG; Becker H; Mandel JL; Koolen DA; Houlden H
Am J Hum Genet; 2020 Aug; 107(2):311-324. PubMed ID: 32738225
[TBL] [Abstract][Full Text] [Related]
18. Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.
He J; Liu XX; Ma MM; Lin JJ; Fu J; Chen YK; Xu GR; Xu LQ; Fu ZF; Xu D; Chen WF; Cao CY; Shi Y; Zeng YH; Zhang J; Chen XC; Zhang RX; Wang N; Kennerson M; Fan DS; Chen WJ
Ann Neurol; 2023 Feb; 93(2):244-256. PubMed ID: 36088542
[TBL] [Abstract][Full Text] [Related]
19. Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
Oprescu SN; Chepa-Lotrea X; Takase R; Golas G; Markello TC; Adams DR; Toro C; Gropman AL; Hou YM; Malicdan MCV; Gahl WA; Tifft CJ; Antonellis A
Hum Mutat; 2017 Oct; 38(10):1412-1420. PubMed ID: 28675565
[TBL] [Abstract][Full Text] [Related]
20. Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?
Zhang H; Zhou ZW; Sun L
J Neurochem; 2021 May; 157(3):351-369. PubMed ID: 33236345
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]