A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
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 dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceNovel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritanceGlucocorticoid-induced changes in gene expression of airway smooth muscle in patients with asthma.Whole exome sequencing in females with autism implicates novel and candidate genes.Gene expression profiling of laser microdissected airway smooth muscle tissue in asthma and atopy.Hooked! Modeling human disease in zebrafish.Molecular genetics of charcot-marie-tooth disease: from genes to genomes.A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.A novel missense mutation of CMT2P alters transcription machinery.DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies.Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.MicroRNA-939 inhibits cell proliferation via targeting LRSAM1 in Hirschsprung's disease.LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1.
P2860
Q24306249-16609943-19CD-4951-99D7-7EDA7A813F8CQ24308681-4A7CF4D1-9C77-47F7-8302-5AC4962B56E3Q24631557-ACC1E25F-2BEC-45A2-86BF-61CFCDF129F2Q24632463-E93EA7B0-F52A-4340-B272-8047B1415423Q28509505-F9C80347-A620-4A1A-AB3F-51585A92E645Q30418208-4C8BD8BB-6FE9-42F4-A7AE-7A420954CAE6Q30537559-45CB6053-A6A3-4E6A-92C1-A17D51062F5EQ33768227-20B9A55F-D5CD-4484-9F9C-234EFC2D4552Q34620420-DAC90595-693F-4A98-93FB-F21DCF99D9B6Q35016586-1FFBF2C9-E2C5-46BB-9658-DAFD5449FCC3Q35180040-EE658D8D-F09F-466D-9CAD-289739D01660Q36068284-11F6CF8D-FDF7-4BEE-841E-97CFF649ECCBQ36493294-4CAC62B4-0F61-4552-8F01-68A59DE17B16Q36565235-FBF54C1C-104F-4D64-92D4-F71D1DE10CDAQ37078644-99207635-A4F8-40BE-986D-EF9D40C75F0FQ37648826-95027A31-EB65-428A-B069-EF409DDE7F08Q38746997-18F4C09A-3B94-48C2-9E49-4FDD143B580CQ38801581-3CF7E361-6949-4BBB-8920-661D529CE932Q39335586-2FBFD529-02B5-43C2-9F63-3B6A39475F5BQ40295448-496B2EBD-80FE-4229-9F5B-C8B800DF3865Q49186738-FC050D81-022E-4496-96E5-AC05A1EFB755Q51089421-38D660A1-083C-4FDE-88CF-34C39AB0CC03Q51448139-77A182F5-5E00-4B42-92C4-B3F6C7E010AD
P2860
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունվարին հրատարակված գիտական հոդված
@hy
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
name
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
@ast
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
@en
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
@nl
type
label
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
@ast
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
@en
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
@nl
prefLabel
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
@ast
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
@en
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
@nl
P2093
P2860
P50
P356
P1476
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy
@en
P2093
Aleksander Sizarov
Baziel G M van Engelen
H Jurgen Schelhaas
Marian A J Weterman
Marit B de Wissel
Marja E Jakobs
Noam Zelcer
P2860
P304
P356
10.1093/HMG/DDR471
P407
P577
2012-01-15T00:00:00Z