UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome
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KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation.Mechanism and disease association of E2-conjugating enzymes: lessons from UBE2T and UBE2L3Intellectual Disability: When the Hypertrichosis Is a ClueMutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorMutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardationCell biology. Metabolic control of cell deathTruncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani familyX-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entitySingle exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up.The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders.Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGenes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.Genetic variation in the epigenetic machinery and mental health.Role of the ubiquitin-proteasome system in nervous system function and disease: using C. elegans as a dissecting tool.A systematic review of genetic syndromes with obesity.A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression.PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder.Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.
P2860
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P2860
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome
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2006 nî lūn-bûn
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2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
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2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2006年の論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年論文
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2006年论文
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name
UBE2A, which encodes a ubiquit ...... ed mental retardation syndrome
@ast
UBE2A, which encodes a ubiquit ...... ed mental retardation syndrome
@en
UBE2A, which encodes a ubiquit ...... ed mental retardation syndrome
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label
UBE2A, which encodes a ubiquit ...... ed mental retardation syndrome
@ast
UBE2A, which encodes a ubiquit ...... ed mental retardation syndrome
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UBE2A, which encodes a ubiquit ...... ed mental retardation syndrome
@nl
prefLabel
UBE2A, which encodes a ubiquit ...... ed mental retardation syndrome
@ast
UBE2A, which encodes a ubiquit ...... ed mental retardation syndrome
@en
UBE2A, which encodes a ubiquit ...... ed mental retardation syndrome
@nl
P2093
P2860
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P356
P1476
UBE2A, which encodes a ubiquit ...... ed mental retardation syndrome
@en
P2093
Angela M Vianna-Morgante
Arjan P M de Brouwer
Rafaella M P Nascimento
P2860
P304
P3181
P356
10.1086/507047
P407
P50
P577
2006-09-01T00:00:00Z