Polyglutamine neurodegeneration: expanded glutamines enhance native functions (Q27026773)

Current Opinion in Genetics & Development

published in

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volume

22

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issue

3

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page(s)

251-5

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Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease

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Secondary Structure of Huntingtin Amino-Terminal Region

21 March 2017

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The structure of the AXH domain of spinocerebellar ataxin-1

21 March 2017

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alpha-Synuclein locus triplication causes Parkinson's disease

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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

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The hunt for huntingtin function: interaction partners tell many different stories

28 September 2017

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Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

21 March 2017

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APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

21 March 2017

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Phosphorylation of S776 and 14-3-3 binding modulate ataxin-1 interaction with splicing factors

21 March 2017

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Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus

21 March 2017

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Trinucleotide Repeat Disorders

21 March 2017

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A tissue-specific atlas of mouse protein phosphorylation and expression

7 April 2017

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Exercise and genetic rescue of SCA1 via the transcriptional repressor Capicua

7 April 2017

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14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus

28 September 2017

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Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3epsilon haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration

28 September 2017

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Smaller intracranial volume in prodromal Huntington's disease: evidence for abnormal neurodevelopment

28 September 2017

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Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy

28 September 2017

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SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776.

28 September 2017

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PolyQ disease: too many Qs, too much function?

28 September 2017

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Molecular Mechanisms and Potential Therapeutical Targets in Huntington's Disease

28 September 2017

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Diseases of unstable repeat expansion: mechanisms and common principles

28 September 2017

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Interaction of Akt-phosphorylated ataxin-1 with 14-3-3 mediates neurodegeneration in spinocerebellar ataxia type 1.

28 September 2017

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Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

28 September 2017

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28 September 2017

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

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ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology

28 September 2017

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Serine 776 of ataxin-1 is critical for polyglutamine-induced disease in SCA1 transgenic mice

28 November 2018

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28 November 2018

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Testosterone reduction prevents phenotypic expression in a transgenic mouse model of spinal and bulbar muscular atrophy

28 November 2018

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Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice

28 November 2018

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Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/22284692

inferred from PubMed ID database lookup

12 December 2020

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Identifiers

DOI

10.1016/J.GDE.2012.01.001

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Fatcat ID

release_vwwtqyvz2zd6ber3phk3lpjhby

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Fatcat

https://api.fatcat.wiki/v0/release/vwwtqyvz2zd6ber3phk3lpjhby

mapped directly with Wikidata item

24 November 2022

based on heuristic

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PubMed publication ID

22284692

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