A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death.
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A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXTrim11 modulates the function of neurogenic transcription factor Pax6 through ubiquitin-proteosome systemA triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairmentMRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansionsInfantile spasms: review of the literature and personal experience.Mutations in ARX Result in Several Defects Involving GABAergic Neurons.Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarismDifferential effects of a polyalanine tract expansion in Arx on neural development and gene expression.Identification of Arx transcriptional targets in the developing basal forebrain.The roles of multiple importins for nuclear import of murine aristaless-related homeobox protein.Control of mRNA stability contributes to low levels of nuclear poly(A) binding protein 1 (PABPN1) in skeletal muscle.Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.PABPN1: molecular function and muscle disease.Ubiquilin overexpression reduces GFP-polyalanine-induced protein aggregates and toxicity.Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation.Interactions between homopolymeric amino acids (HPAAs).Molecular level studies on binding modes of labeling molecules with polyalanine peptides.Expanded polyalanine tracts function as nuclear export signals and promote protein mislocalization via eEF1A1 factor.Constraints and consequences of the emergence of amino acid repeats in eukaryotic proteins.A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.A new mouse model of ARX dup24 recapitulates the patients' behavioural and fine motor alterations.INTERNEURONOPATHIES AND THEIR ROLE IN EARLY LIFE EPILEPSIES AND NEURODEVELOPMENTAL DISORDERS.Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARXContractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms
P2860
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P2860
A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death.
description
2004 nî lūn-bûn
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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
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2004年学术文章
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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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2004年學術文章
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name
A polyalanine tract expansion ...... sults in increased cell death.
@ast
A polyalanine tract expansion ...... sults in increased cell death.
@en
type
label
A polyalanine tract expansion ...... sults in increased cell death.
@ast
A polyalanine tract expansion ...... sults in increased cell death.
@en
prefLabel
A polyalanine tract expansion ...... sults in increased cell death.
@ast
A polyalanine tract expansion ...... sults in increased cell death.
@en
P2093
P2860
P356
P1476
A polyalanine tract expansion ...... sults in increased cell death.
@en
P2093
Ilya M Nasrallah
Jeffrey A Golden
Jeremy C Minarcik
P2860
P304
P356
10.1083/JCB.200408091
P407
P577
2004-11-01T00:00:00Z