A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation
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Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardationAdaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short statureWhat is the functional role of the thalidomide binding protein cereblon?A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardationCC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosaThe CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardationThe role and mechanism of CRL4 E3 ubiquitin ligase in cancer and its potential therapy implicationsRegulating the Regulators: Recent Revelations in the Control of E3 Ubiquitin LigasesStructure of the DDB1–CRBN E3 ubiquitin ligase in complex with thalidomideThalidomide-induced teratogenesis: history and mechanismsA truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyThe thalidomide-binding domain of cereblon defines the CULT domain family and is a new member of the β-tent foldCRL4A(CRBN) E3 ubiquitin ligase restricts BK channel activity and prevents epileptogenesis.Complex aetiology of an apparently Mendelian form of mental retardation.Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.Expression of cereblon protein assessed by immunohistochemicalstaining in myeloma cells is associated with superior response of thalidomide- and lenalidomide-based treatment, but not bortezomib-based treatment, in patients with multiple myeloma.A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disabilityA missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi familyFunctional effects of a pathogenic mutation in Cereblon (CRBN) on the regulation of protein synthesis via the AMPK-mTOR cascade.Proteomic identification of altered cerebral proteins in the complex regional pain syndrome animal model.The genetic basis of non-syndromic intellectual disability: a reviewMutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with non-syndromic mental retardation.Teratogenic effects of thalidomide: molecular mechanisms.High-resolution genomic microarrays for X-linked mental retardation.Protein ubiquitination in lymphoid malignancies.Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation.Exome sequencing and the genetics of intellectual disability.Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneityStructural dynamics of the cereblon ligand binding domain.tSNP-based identification of allelic loss of gene expression in a patient with a balanced chromosomal rearrangement.New perspectives for the elucidation of genetic disordersThe Freud-1/CC2D1A family: transcriptional regulators implicated in mental retardation.Disruption of the cereblon gene enhances hepatic AMPK activity and prevents high-fat diet-induced obesity and insulin resistance in mice.Genetics of autosomal recessive non-syndromic mental retardation: recent advances.Glutamine Triggers Acetylation-Dependent Degradation of Glutamine Synthetase via the Thalidomide Receptor Cereblon.A defect in the TUSC3 gene is associated with autosomal recessive mental retardationA mental retardation-linked nonsense mutation in cereblon is rescued by proteasome inhibition.Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation.Cereblon and IRF4 Variants Affect Risk and Response to Treatment in Multiple Myeloma.Deciphering the mystery of thalidomide teratogenicity.
P2860
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P2860
A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation
description
2004 nî lūn-bûn
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2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
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2004年学术文章
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2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
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2004年學術文章
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name
A mutation in a novel ATP-depe ...... d with mild mental retardation
@ast
A mutation in a novel ATP-depe ...... d with mild mental retardation
@en
A mutation in a novel ATP-depe ...... d with mild mental retardation
@en-gb
A mutation in a novel ATP-depe ...... d with mild mental retardation
@nl
type
label
A mutation in a novel ATP-depe ...... d with mild mental retardation
@ast
A mutation in a novel ATP-depe ...... d with mild mental retardation
@en
A mutation in a novel ATP-depe ...... d with mild mental retardation
@en-gb
A mutation in a novel ATP-depe ...... d with mild mental retardation
@nl
prefLabel
A mutation in a novel ATP-depe ...... d with mild mental retardation
@ast
A mutation in a novel ATP-depe ...... d with mild mental retardation
@en
A mutation in a novel ATP-depe ...... d with mild mental retardation
@en-gb
A mutation in a novel ATP-depe ...... d with mild mental retardation
@nl
P2093
P2860
P3181
P1433
P1476
A mutation in a novel ATP-depe ...... d with mild mental retardation
@en
P2093
Joanna Pucilowska
John P Rooney
Joseph J Higgins
Roni Q Lombardi
P2860
P304
P3181
P356
10.1212/01.WNL.0000146196.01316.A2
P407
P577
2004-11-01T00:00:00Z