about
Ubiquitin-proteasome system involvement in Huntington's diseasePathophysiological power of improper tonic GABA(A) conductances in mature and immature models.myKaryoView: a light-weight client for visualization of genomic dataMouse vision as a gateway for understanding how experience shapes neural circuitsA novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical regionThe human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expressionThe E3 ubiquitin ligase UBE3A is an integral component of the molecular circadian clock through regulating the BMAL1 transcription factorRegulation of Rap2A by the ubiquitin ligase Nedd4-1 controls neurite developmentEphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formationMutant ubiquitin (UBB+1) associated with neurodegenerative disorders is hydrolyzed by ubiquitin C-terminal hydrolase L3 (UCH-L3)E6AP ubiquitin ligase mediates ubiquitylation and degradation of hepatitis C virus core proteinPrader-Willi syndromeThe global transcriptional effects of the human papillomavirus E6 protein in cervical carcinoma cell lines are mediated by the E6AP ubiquitin ligase.The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamilySmall evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which Is highly expressed in brainIdentification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting controlSerological detection of cutaneous T-cell lymphoma-associated antigensHuman scribble (Vartul) is targeted for ubiquitin-mediated degradation by the high-risk papillomavirus E6 proteins and the E6AP ubiquitin-protein ligaseThe comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13A conserved ubiquitin ligase of the nuclear envelope/endoplasmic reticulum that functions in both ER-associated and Matalpha2 repressor degradationTopoisomerase inhibitors unsilence the dormant allele of Ube3a in neuronsAngelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypesRett syndrome and MeCP2: linking epigenetics and neuronal functionClinical and molecular delineation of the 17q21.31 microdeletion syndromeIntegrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kbRegulation of the Src family tyrosine kinase Blk through E6AP-mediated ubiquitinationThe odyssey of MeCP2 and parental imprintingAngelman syndrome: a review of the clinical and genetic aspectsUBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndromeAngelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disordersThe role of the ubiquitination-proteasome pathway in breast cancer: use of mouse models for analyzing ubiquitination processesA necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologuesDendritic mRNAs encode diversified functionalities in hippocampal pyramidal neuronsFrom UBE3A to Angelman syndrome: a substrate perspectivePrader-Willi, Angelman, and 15q11-q13 Duplication SyndromesThe role of deubiquitinating enzymes in synaptic function and nervous system diseasesInvolvement of long noncoding RNAs in diseases affecting the central nervous systemCellular and synaptic network defects in autismAbnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction
P2860
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P2860
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
UBE3A/E6-AP mutations cause Angelman syndrome
@ast
UBE3A/E6-AP mutations cause Angelman syndrome
@en
UBE3A/E6-AP mutations cause Angelman syndrome
@en-gb
UBE3A/E6-AP mutations cause Angelman syndrome
@nl
type
label
UBE3A/E6-AP mutations cause Angelman syndrome
@ast
UBE3A/E6-AP mutations cause Angelman syndrome
@en
UBE3A/E6-AP mutations cause Angelman syndrome
@en-gb
UBE3A/E6-AP mutations cause Angelman syndrome
@nl
prefLabel
UBE3A/E6-AP mutations cause Angelman syndrome
@ast
UBE3A/E6-AP mutations cause Angelman syndrome
@en
UBE3A/E6-AP mutations cause Angelman syndrome
@en-gb
UBE3A/E6-AP mutations cause Angelman syndrome
@nl
P2093
P3181
P356
P1433
P1476
UBE3A/E6-AP mutations cause Angelman syndrome
@en
P2093
P2888
P3181
P356
10.1038/NG0197-70
P407
P577
1997-01-01T00:00:00Z
P6179
1012945311