LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.
about
The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseasesSpatial and temporal dynamics of the cardiac mitochondrial proteome.Negative regulation of Bmi-1 by AMPK and implication in cancer progression.The feedback loop of LITAF and BCL6 is involved in regulating apoptosis in B cell non-Hodgkin's-lymphoma.Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies.GILP family: a stress-responsive group of plant proteins containing a LITAF motif.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.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
LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
LITAF mutations associated wit ...... /lysosome to the mitochondria.
@ast
LITAF mutations associated wit ...... /lysosome to the mitochondria.
@en
type
label
LITAF mutations associated wit ...... /lysosome to the mitochondria.
@ast
LITAF mutations associated wit ...... /lysosome to the mitochondria.
@en
prefLabel
LITAF mutations associated wit ...... /lysosome to the mitochondria.
@ast
LITAF mutations associated wit ...... /lysosome to the mitochondria.
@en
P2093
P2860
P1433
P1476
LITAF mutations associated wit ...... /lysosome to the mitochondria.
@en
P2093
Andressa Ferreira Lacerda
Craig R Brunetti
Emily Hartjes
P2860
P304
P356
10.1371/JOURNAL.PONE.0103454
P407
P577
2014-07-24T00:00:00Z