A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo
about
Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesA brief review of recent Charcot-Marie-Tooth research and prioritiesLoss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.Dimerization is required for GARS-mediated neurotoxicity in dominant CMT diseaseTrk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.Transfer RNA and human diseaseCMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutationsSynaptic Deficits at Neuromuscular Junctions in Two Mouse Models of Charcot-Marie-Tooth Type 2d.Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype.A novel AARS mutation in a family with dominant myeloneuropathy.Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetasesTwo Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutationsNext generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions.Animal models and therapeutic prospects for Charcot-Marie-Tooth disease.Yeast and other lower eukaryotic organisms for studies of Vps13 proteins in health and disease.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Human aminoacyl-tRNA synthetases in diseases of the nervous system.DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.A single Danio rerio hars gene encodes both cytoplasmic and mitochondrial histidyl-tRNA synthetases.Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.The role of tRNA synthetases in neurological and neuromuscular disorders.Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease.Plexin-Semaphorin Signaling Modifies Neuromuscular Defects in a Drosophila Model of Peripheral Neuropathy.Compound heterozygosity for loss-of-function FARSB variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease.A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.
P2860
Q24295194-7E7277AA-6376-4B0F-99CF-D39DB89DA1EAQ27008201-5A72383D-39D1-4D6B-B5E8-60F1DAE0FF7FQ27012700-42CC5543-31AA-4AAA-B134-3FA6518E5C16Q27303689-978EAAFC-EB20-41B9-9195-A1565418DBD3Q30441690-2244D9A9-53AF-4E54-AA62-EBE1C3ED9585Q30731937-51D91675-2012-4414-AF8E-4A0673571E9BQ33594799-A8ECCB5A-4C16-4E01-AB41-8ECA714C21D5Q33703946-6C1A4017-115A-4EE4-90D4-A889212D2B3FQ33860981-A3153F35-D595-4B72-A3CF-FCBA411A383EQ34422396-0B2BD7A0-EB05-4205-BFC8-241565E236C3Q34518552-6BF1EE95-0736-4561-8247-0A92D7092FCBQ35011198-F456A00B-35FB-4CD1-8465-44DBC06CB548Q35639969-677F9F20-09AB-422D-A675-51E7D12017D7Q35821176-9A0214D2-A379-4FED-9D4A-CDDD0DE94B1AQ35864966-60F9901B-ABEE-49DD-821F-2AA7BE0E01B4Q35920313-53A1B3CA-BDCB-406C-BCD6-AA53A1811F95Q35963729-44BE07B2-9828-4F63-B57C-926B34335B6DQ36775218-86FFEF48-A7C0-4C6A-B63A-D60D9B65A78DQ36988941-2C0884B3-3DB3-449B-A0F9-F02401F5B95AQ37049729-7A3941CE-096F-49FC-8C2E-D1B3832BC0B2Q37120323-CDF74D8A-64EB-4B4A-B201-1B922E8178CFQ38126454-C101A67B-7E43-4C2E-8CB5-0300350A0AA2Q38605876-C86FD96B-3EEF-41A7-A9AE-91141A247E92Q38668900-60865A95-0A1E-4089-91A3-B4838EA7C346Q38680291-DF70EEF4-4E6E-414A-9D58-C70B8BE35D61Q38801581-B0DA609B-62ED-4658-967E-9CB1E2E49D77Q38847632-8E0AA35C-076A-4E38-A05F-60A1F8D9D11BQ39017178-D370ABD8-16BE-4EE5-BF73-E4D0DF1AD480Q39149763-FE90B26C-6052-4EE0-8838-105CA8067D89Q41004180-BD0B3B4F-DBCB-4114-9C70-4225BDA64E1EQ42362144-2D1181DA-7615-4B47-A3AC-0F8D71F5AB9FQ43796299-01AD4FDB-42C0-430A-AF44-0EB280531092Q47231938-DE607F37-809C-45FD-B1D2-BA4895706D68Q47299254-EBB63D81-8A42-44CD-98F3-634F428BF704Q47927418-F12699E9-C59E-468C-8DBB-3085420B1560Q50132795-26D234B1-75BC-4613-B8F5-2384213AE23DQ51742574-3236A7EB-7605-49C8-AD0B-A7EADCE1A034Q52639025-C12A82D0-F9AA-410E-BEEB-F384AF7366D8Q52972238-0E3A699C-5367-4542-B0C7-A6A7102AAED3
P2860
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
A loss-of-function variant in ...... RS) gene is neurotoxic in vivo
@ast
A loss-of-function variant in ...... RS) gene is neurotoxic in vivo
@en
type
label
A loss-of-function variant in ...... RS) gene is neurotoxic in vivo
@ast
A loss-of-function variant in ...... RS) gene is neurotoxic in vivo
@en
prefLabel
A loss-of-function variant in ...... RS) gene is neurotoxic in vivo
@ast
A loss-of-function variant in ...... RS) gene is neurotoxic in vivo
@en
P2093
P2860
P50
P356
P1433
P1476
A loss-of-function variant in ...... RS) gene is neurotoxic in vivo
@en
P2093
Aimée Vester
Asim A Beg
Garth Nicholson
Gisselle Velez-Ruiz
Heather M McLaughlin
James R Lupski
Kenneth H Fischbeck
Ricardo H Roda
P2860
P304
P356
10.1002/HUMU.22210
P50
P577
2012-10-11T00:00:00Z