ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
about
Dysregulation of the autophagy-endolysosomal system in amyotrophic lateral sclerosis and related motor neuron diseasesAng2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complexCHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20qThe genetics and neuropathology of frontotemporal lobar degenerationThe ubiquitin proteasome system in neuropathologyToward precision medicine in amyotrophic lateral sclerosisThe Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative MedicineVPS54 and the wobbler mousePhenotypic Heterogeneity of Monogenic Frontotemporal DementiaUltrastructural studies of ALS mitochondria connect altered function and permeability with defects of mitophagy and mitochondriogenesisAutophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALSConverging mechanisms in ALS and FTD: disrupted RNA and protein homeostasisState of play in amyotrophic lateral sclerosis geneticsTherapeutic neuroprotective agents for amyotrophic lateral sclerosisThe GARP complex is required for cellular sphingolipid homeostasis.Mice deficient in Epg5 exhibit selective neuronal vulnerability to degenerationACTH (Acthar Gel) Reduces Toxic SOD1 Protein Linked to Amyotrophic Lateral Sclerosis in Transgenic Mice: A Novel ObservationEdaravone, a Free Radical Scavenger, Delayed Symptomatic and Pathological Progression of Motor Neuron Disease in the Wobbler MouseThe vgll3 Locus Controls Age at Maturity in Wild and Domesticated Atlantic Salmon (Salmo salar L.) MalesNovel missense mutation in charged multivesicular body protein 2B in a patient with frontotemporal dementia.Endocytic regulation of alkali metal transport proteins in mammals, yeast and plants.Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?Selective molecular alterations in the autophagy pathway in patients with Lewy body disease and in models of alpha-synucleinopathyMembrane fission reactions of the mammalian ESCRT pathway.Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).Parkin-mediated ubiquitin signalling in aggresome formation and autophagy.Disease-related changes in the cerebrospinal fluid metabolome in amyotrophic lateral sclerosis detected by GC/TOFMS.Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management.The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis.Clinical phenotypes and genetic biomarkers of FTLD.Autophagy in neurodegenerative disorders: pathogenic roles and therapeutic implicationsThe emerging roles of microRNAs in the pathogenesis of frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) spectrum disordersGenetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.Genetic overlap between apparently sporadic motor neuron diseases.Population-specific regulation of Chmp2b by Lbx1 during onset of synaptogenesis in lateral association interneurons.Genetics of frontotemporal lobar degenerationHereditary frontotemporal dementia caused by Tau gene mutations.Multivesicular bodies in neurons: distribution, protein content, and trafficking functions.Regulation of autophagy by mTOR-dependent and mTOR-independent pathways: autophagy dysfunction in neurodegenerative diseases and therapeutic application of autophagy enhancers.Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2.
P2860
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P2860
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
description
2006 nî lūn-bûn
@nan
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
@ast
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
@en
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
@en-gb
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
@nl
type
label
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
@ast
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
@en
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
@en-gb
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
@nl
prefLabel
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
@ast
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
@en
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
@en-gb
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
@nl
P2093
P50
P921
P1433
P1476
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
@en
P2093
G Skibinski
J Collinge
K E Morrison
N Parkinson
P M Andersen
P304
P356
10.1212/01.WNL.0000231510.89311.8B
P407
P577
2006-09-26T00:00:00Z