Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking
about
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent StutteringExome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersThe Charcot Marie Tooth disease protein LITAF is a zinc-binding monotopic membrane protein.Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.Endocytic regulation of alkali metal transport proteins in mammals, yeast and plants.Membrane fission reactions of the mammalian ESCRT pathway.A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritanceIron homeostasis in peripheral nervous system, still a black box?LITAF, a BCL6 target gene, regulates autophagy in mature B-cell lymphomas.Parkin-mediated K63-polyubiquitination targets ubiquitin C-terminal hydrolase L1 for degradation by the autophagy-lysosome system.Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.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.Motor and Sensory Deficits in the teetering Mice Result from Mutation of the ESCRT Component HGSThe topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.Differential submitochondrial localization of PINK1 as a molecular switch for mediating distinct mitochondrial signaling pathways.SIMPLE: A new regulator of endosomal trafficking and signaling in health and diseaseImportance of endocytic pathways in liver function and disease.Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.Grass carp reovirus NS26 interacts with cellular lipopolysaccharide-induced tumor necrosis factor-alpha factor, LITAF.Parkin Protects Against Misfolded SOD1 Toxicity by Promoting Its Aggresome Formation and Autophagic Clearance.Hypertonia-linked protein Trak1 functions with mitofusins to promote mitochondrial tethering and fusion.Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.SIMPLE binds specifically to PI4P through SIMPLE-like domain and participates in protein trafficking in the trans-Golgi network and/or recycling endosomes.Tryptophan to Glycine mutation in the position 116 leads to protein aggregation and decreases the stability of the LITAF proteinSignalling from Endosomes and Exosomes
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P2860
Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking
description
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2012年学术文章
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name
Charcot-Marie-Tooth disease-li ...... inery in endosomal trafficking
@ast
Charcot-Marie-Tooth disease-li ...... inery in endosomal trafficking
@en
type
label
Charcot-Marie-Tooth disease-li ...... inery in endosomal trafficking
@ast
Charcot-Marie-Tooth disease-li ...... inery in endosomal trafficking
@en
prefLabel
Charcot-Marie-Tooth disease-li ...... inery in endosomal trafficking
@ast
Charcot-Marie-Tooth disease-li ...... inery in endosomal trafficking
@en
P2860
P356
P1476
Charcot-Marie-Tooth disease-li ...... inery in endosomal trafficking
@en
P2093
Samuel M Lee
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P304
P356
10.1083/JCB.201204137
P407
P577
2012-11-19T00:00:00Z