Detalhe da pesquisa
1.
A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.
Hum Mol Genet
; 32(13): 2177-2191, 2023 06 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37010095
2.
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Am J Hum Genet
; 104(3): 520-529, 2019 03 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30824121
3.
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
Hum Mutat
; 41(7): 1232-1237, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32333447
4.
Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease.
Hum Mol Genet
; 26(R2): R114-R127, 2017 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28633377
5.
A recurrent GARS mutation causes distal hereditary motor neuropathy.
J Peripher Nerv Syst
; 24(4): 320-323, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31628756
6.
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Hum Mutat
; 39(3): 415-432, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29235198
7.
Predictive modeling provides insight into the clinical heterogeneity associated with TARS1 loss-of-function mutations.
bioRxiv
; 2024 Mar 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38585737
8.
Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases.
Brain Commun
; 6(2): fcae070, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38495304
9.
Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy.
FEBS J
; 288(1): 91-94, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32940403
10.
A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.
J Neuromuscul Dis
; 6(3): 333-339, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31356216
11.
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.
J Clin Invest
; 129(12): 5568-5583, 2019 12 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31557132
12.
MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.
Eur J Med Genet
; 61(10): 616-620, 2018 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-29655802