SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve - Wikidata - wikimedia - TriplyDB

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

http://www.wikidata.org/entity/Q28259802

about

Identification of human gene products containing Pro-Pro-x-Tyr (PY) motifs that enhance glutathione and endocytotic marker uptake in yeast Charcot-Marie-Tooth disease and intracellular traffic SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations LITAF and TNFSF15, two downstream targets of AMPK, exert inhibitory effects on tumor growth 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 elegans SIMPLE/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.LITAF 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.Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.SIMPLE: A new regulator of endosomal trafficking and signaling in health and disease Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.Negative regulation of Bmi-1 by AMPK and implication in cancer progression.Molecular mechanisms of inherited demyelinating neuropathies.Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.Therapeutic strategies for the inherited neuropathies.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.

P2860

Q24632870-F0A7C1E9-86C3-4DDB-A8AA-C316D2538486 Q26824841-BE42070E-686B-4766-A636-E2E0EC6AE376 Q28247299-3DFD80B4-B0B2-41D8-AD20-EBCE3AD5C6D9 Q30179387-CFF21E26-FE23-41CB-A7F5-F46D26842CCF Q30538247-950FDC91-B7E4-492E-BC53-3EF4228520F6 Q33538327-0F9D0A20-7A53-4844-BE22-CA50A0ABF3DE Q33822248-CF664D76-68A6-4219-B43B-4133FFD9C4FF Q33883661-7F741433-A369-44DA-9E65-7F248F298D71 Q35212568-FF23B341-46B7-4F49-8525-84FA39F3DFCE Q35227491-31A3A439-218E-4DFB-9400-C1C4EEFFCD41 Q35764200-5B1A5F9B-E38F-4F88-BA0B-08D9B885E1EF Q36215275-DCF93385-5E96-465E-9CCB-4705DF79E3EE Q36507140-A8C1609D-5025-4492-A564-08226085F836 Q36507183-5BAEF534-6199-48F9-BBD4-5F9738AFCD0F Q36849731-829A8CFB-9811-4364-B07F-362639B29AF0 Q36887372-B28A255E-FFDE-413F-820B-13AD25FE4367 Q36905874-51CA1BE2-D1EE-4FB7-A2EB-FB3C1A458757 Q36942808-3F36EB86-56C6-4E65-97FD-C995CCDD2C47 Q37078644-975A556C-5919-4E6A-89A3-46D02D9B31A7 Q38687390-FED022BE-5EF1-4C3D-925B-5680612073D7 Q40316169-92AC77C5-8C41-4F01-A37B-1B83422261E6 Q45376680-F6354FA4-8DE1-4F0E-A79A-4581A14A4F08 Q50910183-19F275F3-2073-40E4-B7A1-B83289E58CB0 Q51133913-CBC24747-E0A0-459A-8CA2-8A1A1B041CB2

P2860

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

http://www.wikidata.org/entity/Q28259802

description

2004 nî lūn-bûn

@nan

2004 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի մայիսին հրատարակված գիտական հոդված

@hy

2004年の論文

@ja

2004年論文

@yue

2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

name

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

@ast

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

@en

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

@nl

type

label

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

@ast

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

@en

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

@nl

prefLabel

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

@ast

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

@en

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

@nl

P1433

Q28259802-8E7B4FA7-1042-438D-BD57-F7C8BA9E7749

P1476

Q28259802-3AF1BD97-18D3-457B-A153-68EAF36F169F

P2093

Q28259802-11344A33-6152-437F-871B-C6D807FD11AC

Q28259802-14B656DA-517F-47E2-ABAF-94E6B52E8A5A

Q28259802-25B08069-DC40-4F80-B069-7871C133D360

Q28259802-3F7CB555-61EA-4A9E-8B78-F0E9EAC18B49

Q28259802-435F89C8-2A5B-4ED6-B875-4B3F02BCABD8

Q28259802-5D034DEF-71D5-4208-8E53-7E66B59D719D

Q28259802-73A9BED5-D0D8-4D8A-8B51-4221BC4DFFE2

Q28259802-7BB473F8-7BE4-4A4E-A94A-8DC60C17B459

Q28259802-7D59E152-1A99-47D5-A697-74AA09B29263

Q28259802-82CE968E-F7D5-4DF9-936A-8226C72D4FA7

P2860

Q28259802-03982206-E30E-4901-A7EC-FFB87E2F4EF4

Q28259802-B3C462EB-9745-4D40-95B4-327C06E13C00

P304

Q28259802-DB1D739F-07AD-4B7F-9E45-F99532A29226

P31

Q28259802-5239A533-3140-44CA-9545-49651F818104

P356

Q28259802-411B5AE5-1E45-4AC3-9627-A834CD6CC176

P407

Q28259802-E1ECB964-79FF-46FA-8C70-D8CF0CC7586B

P433

Q28259802-BCB962B9-D3CC-4DF9-A777-BDC79E79A9AC

P478

Q28259802-71FDF34B-AC7B-479C-B215-15E0AF325903

P50

Q28259802-3763141F-3BF2-47AB-8FFB-C45EFA9441B7

Q28259802-7556DF02-F949-4A8D-BFEF-C57CE4269D14

Q28259802-7E2DA9E6-C0CA-4343-8C30-1137C24EDFAB

Q28259802-D530FC1E-E7D7-4B91-94E3-D024D21EEFAB

Q28259802-E3F22B87-5C1F-4D13-9F60-248471732D09

Q28259802-FDC1BD92-A805-4D90-9FC8-62D8A05A611E

P577

Q28259802-C387F60C-F78E-4703-9EEB-A55C3B5524C3

P698

Q28259802-B3AF9226-60C6-41F2-8A27-C134CB1F5B21

P356

P1433

Annals of Neurology

P1476

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

@en

P2093

Andrew J Shirk

http://www.w3.org/2001/XMLSchema#string

Craig L Bennett

http://www.w3.org/2001/XMLSchema#string

Huy M Huynh

http://www.w3.org/2001/XMLSchema#string

Ivailo Tournev

http://www.w3.org/2001/XMLSchema#string

Ivo Kremensky

http://www.w3.org/2001/XMLSchema#string

Jana Haberlova

http://www.w3.org/2001/XMLSchema#string

Michael D Weiss

http://www.w3.org/2001/XMLSchema#string

Pavel Seeman

http://www.w3.org/2001/XMLSchema#string

Peter Van Den Bergh

http://www.w3.org/2001/XMLSchema#string

Phillip F Chance

http://www.w3.org/2001/XMLSchema#string

P2860

Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies.

Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.

P304

713-20

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/ANA.20094

http://www.w3.org/2001/XMLSchema#string

P407

P433

5

http://www.w3.org/2001/XMLSchema#string

P478

55

http://www.w3.org/2001/XMLSchema#string

P50

Peter De Jonghe

Albena Jordanova

Velina Guergueltcheva

Lionel Van Maldergem

Vincent Timmerman

P577

2004-05-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

15122712

http://www.w3.org/2001/XMLSchema#string