Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain - Wikidata - awgldk - TriplyDB

Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain

Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain

http://www.wikidata.org/entity/Q24324461

about

Atrophin-1, the dentato-rubral and pallido-luysian atrophy gene product, interacts with ETO/MTG8 in the nuclear matrix and represses transcription Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme Molecular cloning of a full-length cDNA for dentatorubral-pallidoluysian atrophy and regional expressions of the expanded alleles in the CNS Molecular pathology of dentatorubral-pallidoluysian atrophy A dynamic structural model of expanded RNA CAG repeats: a refined X-ray structure and computational investigations using molecular dynamics and umbrella sampling simulations.Dentatorubral pallidoluysian atrophy (DRPLA) protein is cleaved by caspase-3 during apoptosis Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity Computational investigation of RNA CUG repeats responsible for myotonic dystrophy 1 Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera.Oriented cell division as a response to cell death and cell competition.Widespread occurrence of intranuclear atrophin-1 accumulation in the central nervous system neurons of patients with dentatorubral-pallidoluysian atrophy.Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs.Hereditary dentatorubral-pallidoluysian atrophy.Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts.Advances in the genetics of progressive myoclonus epilepsy.Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2.State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.Polyglutamine expansion alters the dynamics and molecular architecture of aggregates in dentatorubropallidoluysian atrophy Targeting intrinsically disordered proteins in neurodegenerative and protein dysfunction diseases: another illustration of the D(2) concept.Molecular dynamics analysis of the aggregation propensity of polyglutamine segments Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice.Protein SUMOylation in neuropathological conditions.Targets and consequences of protein SUMOylation in neurons.Polyglutamine (PolyQ) diseases: genetics to treatments.The expanding role for chromatin and transcription in polyglutamine disease.Proteolytic processing regulates pathological accumulation in dentatorubral-pallidoluysian atrophy.Poly-L-glutamine forms cation channels: relevance to the pathogenesis of the polyglutamine diseases.Clinical implications of unstable DNA repeat sequences.Progressive myoclonic epilepsies: recent genetic advances.Clinical aspects of CAG repeat diseases.The neuropathology of CAG repeat diseases: review and update of genetic and molecular features.The CAG/polyglutamine tract diseases: gene products and molecular pathogenesis.Huntington's disease and dentatorubral-pallidoluysian atrophy: proteins, pathogenesis and pathology.Aberrant phosphorylation of dentatorubral-pallidoluysian atrophy (DRPLA) protein complex in brain tissue.Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability.Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH.Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy.Intrinsic Disorder in Proteins with Pathogenic Repeat Expansions.

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P2860

Abnormal gene product identified in hereditary dentatorubral-pallidoluysian atrophy (DRPLA) brain

http://www.wikidata.org/entity/Q24324461

description

1995 nî lūn-bûn

@nan

1995 թուականի Մայիսին հրատարակուած գիտական յօդուած

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1995 թվականի մայիսին հրատարակված գիտական հոդված

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1995年の論文

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1995年論文

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1995年論文

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1995年論文

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1995年論文

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1995年論文

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1995年论文

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name

Abnormal gene product identifi ...... oluysian atrophy (DRPLA) brain

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Abnormal gene product identifi ...... oluysian atrophy (DRPLA) brain

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Abnormal gene product identifi ...... oluysian atrophy (DRPLA) brain

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Abnormal gene product identifi ...... oluysian atrophy (DRPLA) brain

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type

label

Abnormal gene product identifi ...... oluysian atrophy (DRPLA) brain

@ast

Abnormal gene product identifi ...... oluysian atrophy (DRPLA) brain

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Abnormal gene product identifi ...... oluysian atrophy (DRPLA) brain

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Abnormal gene product identifi ...... oluysian atrophy (DRPLA) brain

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prefLabel

Abnormal gene product identifi ...... oluysian atrophy (DRPLA) brain

@ast

Abnormal gene product identifi ...... oluysian atrophy (DRPLA) brain

@en

Abnormal gene product identifi ...... oluysian atrophy (DRPLA) brain

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Abnormal gene product identifi ...... oluysian atrophy (DRPLA) brain

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P1433

Nature Genetics

P1476

Abnormal gene product identifi ...... oluysian atrophy (DRPLA) brain

@en

P2093

H Hashida

http://www.w3.org/2001/XMLSchema#string

I Kanazawa

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I Yazawa

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J Goto

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M Yamada

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N Nukina

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P2860

Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy.

Unusual form of cerebellar ataxia; combined dentato-rubral and pallido-Luysian degeneration.

DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.

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99-103

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scholarly article

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10.1038/NG0595-99

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1

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10

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1995-05-01T00:00:00Z

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1027998653

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7647802

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central nervous system development