Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology
about
Alpha-synuclein Toxicity in the Early Secretory Pathway: How It Drives Neurodegeneration in Parkinsons DiseaseC9orf72's Interaction with Rab GTPases-Modulation of Membrane Traffic and AutophagyPhosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPasesLoss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell deathA C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagyThe RAB39B p.G192R mutation causes X-linked dominant Parkinson's diseaseGenetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson's diseaseVPS35, the Retromer Complex and Parkinson's Disease.Gene co-expression networks shed light into diseases of brain iron accumulation.Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson diseaseGenome-Scale Networks Link Neurodegenerative Disease Genes to α-Synuclein through Specific Molecular Pathways.The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.hVMAT2: A Target of Individualized Medication for Parkinson's Disease.Phos-tag analysis of Rab10 phosphorylation by LRRK2: a powerful assay for assessing kinase function and inhibitors.RAB39B gene mutations are not linked to familial Parkinson's disease in ChinaHeterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.Increased Rab35 expression is a potential biomarker and implicated in the pathogenesis of Parkinson's disease.Rab GTPases: The Key Players in the Molecular Pathway of Parkinson's Disease.Review: Parkinson's disease: from synaptic loss to connectome dysfunction.Genetics of movement disorders in the next-generation sequencing era.Defects in trafficking bridge Parkinson's disease pathology and genetics.Rabs, Membrane Dynamics, and Parkinson's Disease.Critical importance of RAB proteins for synaptic function.Coordination of AMPA receptor trafficking by Rab GTPases.New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.[Epidemiology and causes of Parkinson's disease].The Enigmatic Role of C9ORF72 in AutophagyA customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's diseaseSelective LRRK2 kinase inhibition reduces phosphorylation of endogenous Rab10 and Rab12 in human peripheral mononuclear blood cells.Phosphoproteomic screening identifies Rab GTPases as novel downstream targets of PINK1.Traffic jams and the complex role of α-Synuclein aggregation in Parkinson disease.Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis.Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.Prenatal diagnosis of sex chromosomal inversion, translocation and deletion.Consequences of Rab GTPase dysfunction in genetic or acquired human diseases.Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.Rab7 induces clearance of α-synuclein aggregates.A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification.PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.
P2860
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P2860
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology
description
2014 nî lūn-bûn
@nan
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին 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
Mutations in RAB39B cause X-li ...... ase with α-synuclein pathology
@ast
Mutations in RAB39B cause X-li ...... ase with α-synuclein pathology
@en
Mutations in RAB39B cause X-li ...... ase with α-synuclein pathology
@nl
type
label
Mutations in RAB39B cause X-li ...... ase with α-synuclein pathology
@ast
Mutations in RAB39B cause X-li ...... ase with α-synuclein pathology
@en
Mutations in RAB39B cause X-li ...... ase with α-synuclein pathology
@nl
prefLabel
Mutations in RAB39B cause X-li ...... ase with α-synuclein pathology
@ast
Mutations in RAB39B cause X-li ...... ase with α-synuclein pathology
@en
Mutations in RAB39B cause X-li ...... ase with α-synuclein pathology
@nl
P2093
P2860
P50
P921
P1476
Mutations in RAB39B cause X-li ...... ase with α-synuclein pathology
@en
P2093
Andrew Churchyard
Catherine J Bromhead
Charles A Galea
Christopher H Lawrence
David S Wargowski
Dean G Phelan
Elizabeth Fitzpatrick
Gabrielle R Wilson
Greta Gillies
Jessica R Riseley
P2860
P304
P356
10.1016/J.AJHG.2014.10.015
P407
P50
P577
2014-11-26T00:00:00Z