SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation
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Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth diseaseLoss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth diseaseIdentification of human gene products containing Pro-Pro-x-Tyr (PY) motifs that enhance glutathione and endocytotic marker uptake in yeastCharcot-Marie-Tooth disease and intracellular trafficSIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutationsMutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathwayThe Charcot Marie Tooth disease protein LITAF is a zinc-binding monotopic membrane protein.Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.Characterization of the octamer, a cis-regulatory element that modulates excretory cell gene-expression in Caenorhabditis elegansSIMPLE/LITAF expression induces the translocation of the ubiquitin ligase itch towards the lysosomal compartments.The LSD1-interacting protein GILP is a LITAF domain protein that negatively regulates hypersensitive cell death in Arabidopsis.Identification of the Drosophila ortholog of HSPB8: implication of HSPB8 loss of function in protein folding diseases.The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseasesLITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.Dysregulated Inflammatory Signaling upon Charcot-Marie-Tooth Type 1C Mutation of SIMPLE Protein.The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal traffickingMolecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.Polarization and myelination in myelinating glia.Inherited peripheral neuropathies.SIMPLE: A new regulator of endosomal trafficking and signaling in health and diseaseMutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.Molecular mechanisms of inherited demyelinating neuropathies.A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?ESCRT & Co.A review of genetic counseling for Charcot Marie Tooth disease (CMT).Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.LITAF (SIMPLE) regulates Wallerian degeneration after injury but is not essential for peripheral nerve development and maintenance: implications for Charcot-Marie-Tooth disease.Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.Genetic epidemiology of Charcot-Marie-Tooth disease.SIMPLE binds specifically to PI4P through SIMPLE-like domain and participates in protein trafficking in the trans-Golgi network and/or recycling endosomes.
P2860
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P2860
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
SIMPLE mutations in Charcot-Ma ...... product in protein degradation
@ast
SIMPLE mutations in Charcot-Ma ...... product in protein degradation
@en
SIMPLE mutations in Charcot-Ma ...... product in protein degradation
@nl
type
label
SIMPLE mutations in Charcot-Ma ...... product in protein degradation
@ast
SIMPLE mutations in Charcot-Ma ...... product in protein degradation
@en
SIMPLE mutations in Charcot-Ma ...... product in protein degradation
@nl
prefLabel
SIMPLE mutations in Charcot-Ma ...... product in protein degradation
@ast
SIMPLE mutations in Charcot-Ma ...... product in protein degradation
@en
SIMPLE mutations in Charcot-Ma ...... product in protein degradation
@nl
P2093
P50
P3181
P356
P1433
P1476
SIMPLE mutations in Charcot-Ma ...... product in protein degradation
@en
P2093
Gulam Mustafa Saifi
Ian Butler
James R Lupski
Karen Krajewski
Kinga Szigeti
Pedro Mancias
Suzanne Reeser
Wojciech Wiszniewski
P2860
P304
P3181
P356
10.1002/HUMU.20153
P407
P577
2005-04-01T00:00:00Z