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Cell biology of spinocerebellar ataxia

The Journal of cell biology, 2012-04, Vol.197 (2), p.167-177

Orr, Harry T

2012

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The Unstable Repeats—Three Evolving Faces of Neurological Disease

Neuron (Cambridge, Mass.), 2013-03, Vol.77 (5), p.825-843

2013

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Trinucleotide repeat disorders

Annual review of neuroscience, 2007-01, Vol.30 (1), p.575-621

2007

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Cholecystokinin Activation of Cholecystokinin 1 Receptors: a Purkinje Cell Neuroprotective Pathway

Cerebellum (London, England), 2023-08, Vol.22 (4), p.756-760

Orr, Harry T.

2023

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Polyglutamine spinocerebellar ataxias - from genes to potential treatments

Nature reviews. Neuroscience, 2017-10, Vol.18 (10), p.613

2017

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The PERK pathway: beneficial or detrimental for neurodegenerative diseases and tumor growth and cancer

Human molecular genetics, 2023-08, Vol.32 (16), p.2545-2557

2023

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Polyglutamine neurodegeneration: expanded glutamines enhance native functions

Current opinion in genetics & development, 2012-06, Vol.22 (3), p.251-255

Orr, Harry T

2012

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Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways

Neuron (Cambridge, Mass.), 2016-03, Vol.89 (6), p.1194-1207

2016

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HD and SCA1: Tales from two 30-year journeys since gene discovery

Neuron (Cambridge, Mass.), 2023-11, Vol.111 (22), p.3517-3530

2023

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Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1

The Journal of biological chemistry, 2009-03, Vol.284 (12), p.7425-7429

2009

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Pumilio1 Haploinsufficiency Leads to SCA1-like Neurodegeneration by Increasing Wild-Type Ataxin1 Levels

Cell, 2015-03, Vol.160 (6), p.1087-1098

2015

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Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis

PLoS genetics, 2010-07, Vol.6 (7), p.e1001021-e1001021

2010

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SCA1-phosphorylation, a regulator of Ataxin-1 function and pathogenesis

Progress in neurobiology, 2012-12, Vol.99 (3), p.179-185

Orr, Harry T

2012

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FTD and ALS: Genetic Ties that Bind

Neuron (Cambridge, Mass.), 2011-10, Vol.72 (2), p.189-190

Orr, Harry T.

2011

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Relative burden of large CNVs on a range of neurodevelopmental phenotypes

PLoS genetics, 2011-11, Vol.7 (11), p.e1002334

2011

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ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism

Neuron (Cambridge, Mass.), 2018-03, Vol.97 (6), p.1235-1243.e5

2018

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Tolerance is established in polyclonal CD4(+) T cells by distinct mechanisms, according to self-peptide expression patterns

Nature immunology, 2016-02, Vol.17 (2), p.187

2016

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Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models

Human molecular genetics, 2016-12, Vol.25 (23), p.5083-5093

2016

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Targeting inhibitory cerebellar circuitry to alleviate behavioral deficits in a mouse model for studying idiopathic autism

Neuropsychopharmacology (New York, N.Y.), 2020-06, Vol.45 (7), p.1159-1170

2020

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Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

PLoS genetics, 2018-01, Vol.14 (1), p.e1007169-e1007169

2018

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Beclin 1 is required for neuron viability and regulates endosome pathways via the UVRAG-VPS34 complex

PLoS genetics, 2014-10, Vol.10 (10), p.e1004626-e1004626

2014

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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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Autistic-like behavior and cerebellar dysfunction in Bmal1 mutant mice ameliorated by mTORC1 inhibition

Molecular psychiatry, 2023-09, Vol.28 (9), p.3727-3738

2023

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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

PLoS genetics, 2024-05, Vol.20 (5), p.e1011230-e1011230

2024

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Diminishing return for mechanistic therapeutics with neurodegenerative disease duration?: There may be a point in the course of a neurodegenerative condition where therapeutics targeting disease-causing mechanisms are futile

BioEssays, 2016-10, Vol.38 (10), p.977-980

2016

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Cell biology of spinocerebellar ataxia

The Unstable Repeats—Three Evolving Faces of Neurological Disease

Trinucleotide repeat disorders

Cholecystokinin Activation of Cholecystokinin 1 Receptors: a Purkinje Cell Neuroprotective Pathway

Polyglutamine spinocerebellar ataxias - from genes to potential treatments

The PERK pathway: beneficial or detrimental for neurodegenerative diseases and tumor growth and cancer

Polyglutamine neurodegeneration: expanded glutamines enhance native functions

Cerebellar Transcriptome Profiles of ATXN1 Transgenic Mice Reveal SCA1 Disease Progression and Protection Pathways

HD and SCA1: Tales from two 30-year journeys since gene discovery

Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1

Pumilio1 Haploinsufficiency Leads to SCA1-like Neurodegeneration by Increasing Wild-Type Ataxin1 Levels

Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis

SCA1-phosphorylation, a regulator of Ataxin-1 function and pathogenesis

FTD and ALS: Genetic Ties that Bind

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism

Tolerance is established in polyclonal CD4(+) T cells by distinct mechanisms, according to self-peptide expression patterns

Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models

Targeting inhibitory cerebellar circuitry to alleviate behavioral deficits in a mouse model for studying idiopathic autism

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

Beclin 1 is required for neuron viability and regulates endosome pathways via the UVRAG-VPS34 complex

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

Autistic-like behavior and cerebellar dysfunction in Bmal1 mutant mice ameliorated by mTORC1 inhibition

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

Diminishing return for mechanistic therapeutics with neurodegenerative disease duration?: There may be a point in the course of a neurodegenerative condition where therapeutics targeting disease-causing mechanisms are futile

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