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Pathogenic mechanisms underlying spinocerebellar ataxia type 1

Cellular and molecular life sciences : CMLS, 2020-10, Vol.77 (20), p.4015-4029

2020

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Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1

eLife, 2018-12, Vol.7

2018

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

Nature, 2008-04, Vol.452 (7188), p.713-718

2008

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Beyond the Glutamine Expansion: Influence of Posttranslational Modifications of Ataxin-1 in the Pathogenesis of Spinocerebellar Ataxia Type 1

Molecular neurobiology, 2014-12, Vol.50 (3), p.866-874

2014

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Reduction of Nemo-like kinase increases lysosome biogenesis and ameliorates TDP-43-related neurodegeneration

The Journal of clinical investigation, 2023-08, Vol.133 (16), p.1-17

2023

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A Protein–Protein Interaction Network for Human Inherited Ataxias and Disorders of Purkinje Cell Degeneration

Cell, 2006-05, Vol.125 (4), p.801-814

2006

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Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy

Frontiers in molecular neuroscience, 2022-06, Vol.15, p.931301

2022

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Identifying Disease Signatures in the Spinocerebellar Ataxia Type 1 Mouse Cortex

Cells (Basel, Switzerland), 2022-08, Vol.11 (17), p.2632

2022

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Aggregation formation in the polyglutamine diseases: Protection at a cost?

Molecules and Cells, 2013, 36(3), , pp.185-194

2013

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Microglia regulate brain progranulin levels through the endocytosis/lysosomal pathway

JCI insight, 2021-11, Vol.6 (22)

2021

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Genetic Risk of Autism Spectrum Disorder in a Pakistani Population

Genes, 2020-10, Vol.11 (10), p.1206

2020

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Bar represses dPax2 and decapentaplegic to regulate cell fate and morphogenetic cell death in Drosophila eye

PloS one, 2014-02, Vol.9 (2), p.e88171-e88171

2014

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A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family

Cells (Basel, Switzerland), 2022-09, Vol.11 (19), p.3090

2022

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dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1

PLoS genetics, 2007-12, Vol.3 (12), p.e234-e234

2007

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Nemo-like kinase is a novel regulator of spinal and bulbar muscular atrophy

eLife, 2015-08, Vol.4, p.e08493

2015

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Hunting for the mutant without the MAP(K)

Cell research, 2017-12, Vol.27 (12), p.1403-1404

2017

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Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31

Journal of clinical medicine, 2020-01, Vol.9 (1), p.274

2020

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The extra-cerebellar effects of spinocerebellar ataxia type 1 (SCA1): looking beyond the cerebellum

Cellular and molecular life sciences : CMLS, 2022-08, Vol.79 (8), p.404-404, Article 404

2022

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Hunting for the mutant without the MAP（K）

细胞研究：英文版, 2017, Vol.27 (12), p.1403-1404

2017

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X-gal Staining on Adult Mouse Brain Sections

Bio-protocol, 2014-01, Vol.4 (5)

2014

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Dysregulation of alternative splicing in spinocerebellar ataxia type 1

Human molecular genetics, 2024-01, Vol.33 (2), p.138-149

2024

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Novel Transcription Coactivator Complex Containing Activating Signal Cointegrator 1

Molecular and Cellular Biology, 2002-07, Vol.22 (14), p.5203-5211

2002

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Induction and autoregulation of the anti-proneural gene Bar during retinal neurogenesis in Drosophila

Development (Cambridge), 2004-11, Vol.131 (22), p.5573-5580

2004

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Bar homeodomain proteins are anti-proneural in the Drosophila eye: transcriptional repression of atonal by Bar prevents ectopic retinal neurogenesis

Development (Cambridge), 2003-12, Vol.130 (24), p.5965-5974

2003

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Differential effects of Wnt-β-catenin signaling in Purkinje cells and Bergmann glia in spinocerebellar ataxia type 1

Proceedings of the National Academy of Sciences - PNAS, 2022-08, Vol.119 (34), p.e2208513119-e2208513119

2022

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Pathogenic mechanisms underlying spinocerebellar ataxia type 1

Molecular pathway analysis towards understanding tissue vulnerability in spinocerebellar ataxia type 1

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

Beyond the Glutamine Expansion: Influence of Posttranslational Modifications of Ataxin-1 in the Pathogenesis of Spinocerebellar Ataxia Type 1

Reduction of Nemo-like kinase increases lysosome biogenesis and ameliorates TDP-43-related neurodegeneration

A Protein–Protein Interaction Network for Human Inherited Ataxias and Disorders of Purkinje Cell Degeneration

Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy

Identifying Disease Signatures in the Spinocerebellar Ataxia Type 1 Mouse Cortex

Aggregation formation in the polyglutamine diseases: Protection at a cost?

Microglia regulate brain progranulin levels through the endocytosis/lysosomal pathway

Genetic Risk of Autism Spectrum Disorder in a Pakistani Population

Bar represses dPax2 and decapentaplegic to regulate cell fate and morphogenetic cell death in Drosophila eye

A Novel Missense Mutation in ERCC8 Co-Segregates with Cerebellar Ataxia in a Consanguineous Pakistani Family

dAtaxin-2 mediates expanded Ataxin-1-induced neurodegeneration in a Drosophila model of SCA1

Nemo-like kinase is a novel regulator of spinal and bulbar muscular atrophy

Hunting for the mutant without the MAP(K)

Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31

The extra-cerebellar effects of spinocerebellar ataxia type 1 (SCA1): looking beyond the cerebellum

Hunting for the mutant without the MAP（K）

X-gal Staining on Adult Mouse Brain Sections

Dysregulation of alternative splicing in spinocerebellar ataxia type 1

Novel Transcription Coactivator Complex Containing Activating Signal Cointegrator 1

Induction and autoregulation of the anti-proneural gene Bar during retinal neurogenesis in Drosophila

Bar homeodomain proteins are anti-proneural in the Drosophila eye: transcriptional repression of atonal by Bar prevents ectopic retinal neurogenesis

Differential effects of Wnt-β-catenin signaling in Purkinje cells and Bergmann glia in spinocerebellar ataxia type 1

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