Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease
about
The LRR and RING domain protein LRSAM1 is an E3 ligase crucial for ubiquitin-dependent autophagy of intracellular Salmonella TyphimuriumPHF23 (plant homeodomain finger protein 23) negatively regulates cell autophagy by promoting ubiquitination and degradation of E3 ligase LRSAM1Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth diseaseA novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth diseaseA frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyCharcot-Marie-Tooth disease and intracellular trafficSeptin6 and Septin7 GTP binding proteins regulate AP-3- and ESCRT-dependent multivesicular body biogenesisA dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceA novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritanceWhole exome sequencing in females with autism implicates novel and candidate genes.Molecular genetics of charcot-marie-tooth disease: from genes to genomes.A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.Fish oil slows prostate cancer xenograft growth relative to other dietary fats and is associated with decreased mitochondrial and insulin pathway gene expression.Tooth evolution and dental defects: from genetic regulation network to micro-RNA fine-tuning.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.A novel missense mutation of CMT2P alters transcription machinery.Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.AP-1/σ1A and AP-1/σ1B adaptor-proteins differentially regulate neuronal early endosome maturation via the Rab5/Vps34-pathway.Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype.Common genetic variants on 1p13.2 associate with risk of autism.LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Mapping QTL for white striping in relation to breast muscle yield and meat quality traits in broiler chickens.Autophagy and Its Interaction With Intracellular Bacterial Pathogens.
P2860
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P2860
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease
description
2010 nî lūn-bûn
@nan
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutation in the gene encoding ...... th Charcot-Marie-Tooth disease
@ast
Mutation in the gene encoding ...... th Charcot-Marie-Tooth disease
@en
Mutation in the gene encoding ...... th Charcot-Marie-Tooth disease
@en-gb
Mutation in the gene encoding ...... th Charcot-Marie-Tooth disease
@nl
type
label
Mutation in the gene encoding ...... th Charcot-Marie-Tooth disease
@ast
Mutation in the gene encoding ...... th Charcot-Marie-Tooth disease
@en
Mutation in the gene encoding ...... th Charcot-Marie-Tooth disease
@en-gb
Mutation in the gene encoding ...... th Charcot-Marie-Tooth disease
@nl
altLabel
Mutation in the Gene Encoding ...... th Charcot-Marie-Tooth Disease
@en
prefLabel
Mutation in the gene encoding ...... th Charcot-Marie-Tooth disease
@ast
Mutation in the gene encoding ...... th Charcot-Marie-Tooth disease
@en
Mutation in the gene encoding ...... th Charcot-Marie-Tooth disease
@en-gb
Mutation in the gene encoding ...... th Charcot-Marie-Tooth disease
@nl
P2093
P2860
P3181
P1433
P1476
Mutation in the gene encoding ...... th Charcot-Marie-Tooth disease
@en
P2093
Andrea L Rideout
Andrew Orr
Christine Macgillivray
David L Skidmore
Duane L Guernsey
Haiyan Jiang
Karen Bedard
Makoto Matsuoka
Mark E Samuels
Mark Ludman
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1001081
P407
P577
2010-08-01T00:00:00Z