Polyglutamine diseases

Modulation of ATXN1 S776 phosphorylation reveals the importance of allele-specific targeting in SCA1

(2021) Larissa Nitschke et al.   JCI Insight

Staufen1 in Human Neurodegeneration

(2021) Sharan Paul et al.   ANNALS OF NEUROLOGY

On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

(2020) Alexandra N. Khristich et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cerebellum-enriched protein INPP5A contributes to selective neuropathology in mouse model of spinocerebellar ataxias type 17

(2020) Qiong Liu et al.   Nature Communications

Staufen 1 amplifies proapoptotic activation of the unfolded protein response

(2020) Mandi Gandelman et al.   CELL DEATH AND DIFFERENTIATION

ALS-associated genes in SCA2 mouse spinal cord transcriptomes

(2020) Daniel R Scoles et al.   HUMAN MOLECULAR GENETICS

Truncation of mutant huntingtin in knock-in mice demonstrates exon1 huntingtin is a key pathogenic form

(2020) Huiming Yang et al.   Nature Communications

Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects

(2020) Kyung-Hee Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Antisense Oligonucleotide Therapy Targeted Against ATXN3 Improves Potassium Channel–Mediated Purkinje Neuron Dysfunction in Spinocerebellar Ataxia Type 3

(2020) David D. Bushart et al.   CEREBELLUM

Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment

(2020) Christopher Grunseich et al.   CURRENT OPINION IN NEUROLOGY

miR760 regulates ATXN1 levels via interaction with its 5′ untranslated region

(2020) Larissa Nitschke et al.   GENES & DEVELOPMENT

Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1

(2020) Ricardo Mouro Pinto et al.   HUMAN MOLECULAR GENETICS

Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neurons

(2020) Naemeh Pourshafie et al.   JCI Insight

Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1

(2020) Ravi Chopra et al.   HUMAN MOLECULAR GENETICS

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out

(2020) Jacob M Loupe et al.   HUMAN MOLECULAR GENETICS

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

(2019) Galen E.B. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeting Huntingtin Expression in Patients with Huntington’s Disease

(2019) Sarah J. Tabrizi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Side chain to main chain hydrogen bonds stabilize a polyglutamine helix in a transcription factor

(2019) Albert Escobedo et al.   Nature Communications

Spinocerebellar ataxia

(2019) Thomas Klockgether et al.   Nature Reviews Disease Primers

MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

(2019) Michael Flower et al.   BRAIN

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

(2019) Jong-Min Lee et al.   CELL

5′UTR-mediated regulation of Ataxin-1 expression

(2019) Rachna Manek et al.   NEUROBIOLOGY OF DISEASE

A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes

(2019) Marc Ciosi et al.   EBioMedicine

Nicotinamide Pathway-Dependent Sirt1 Activation Restores Calcium Homeostasis to Achieve Neuroprotection in Spinocerebellar Ataxia Type 7

(2019) Colleen A. Stoyas et al.   NEURON

Oligonucleotide therapy mitigates disease in Spinocerebellar Ataxia Type 3 mice

(2018) Hayley S. McLoughlin et al.   ANNALS OF NEUROLOGY

PAK1 regulates ATXN1 levels providing an opportunity to modify its toxicity in spinocerebellar ataxia type 1

(2018) Vitaliy V Bondar et al.   HUMAN MOLECULAR GENETICS

Protein kinase C activity is a protective modifier of Purkinje neuron degeneration in cerebellar ataxia

(2018) Ravi Chopra et al.   HUMAN MOLECULAR GENETICS

Reduction of protein kinase A-mediated phosphorylation of ATXN1-S776 in Purkinje cells delays onset of Ataxia in a SCA1 mouse model

(2018) Judit M. Pérez Ortiz et al.   NEUROBIOLOGY OF DISEASE

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

(2018) Maxime W.C. Rousseaux et al.   NEURON

Ion channel dysfunction in cerebellar ataxia

(2018) David D. Bushart et al.   NEUROSCIENCE LETTERS

Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration

(2018) Sharan Paul et al.   Nature Communications

Regulatory mechanisms of incomplete huntingtin mRNA splicing

(2018) Andreas Neueder et al.   Nature Communications

Trehalose induces autophagy via lysosomal-mediated TFEB activation in models of motoneuron degeneration

(2018) Paola Rusmini et al.   Autophagy

FAN1 modifies Huntington’s disease progression by stabilising the expanded HTT CAG repeat

(2018) Robert Goold et al.   HUMAN MOLECULAR GENETICS

Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7

(2018) Chenchen Niu et al.   Science Translational Medicine

A modifier of Huntington's disease onset at the MLH1 locus

(2017) Jong-Min Lee et al.   HUMAN MOLECULAR GENETICS

Potassium channel dysfunction underlies Purkinje neuron spiking abnormalities in spinocerebellar ataxia type 2

(2017) James M Dell’Orco et al.   HUMAN MOLECULAR GENETICS

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

(2017) Davina J Hensman Moss et al.   LANCET NEUROLOGY

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

(2017) Daniel R. Scoles et al.   NATURE

Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

(2017) Hsiang-Chih Lu et al.   NATURE GENETICS

Antisense Oligonucleotide-Mediated Removal of the Polyglutamine Repeat in Spinocerebellar Ataxia Type 3 Mice

(2017) Lodewijk J.A. Toonen et al.   Molecular Therapy-Nucleic Acids

Evaluation of Antisense Oligonucleotides Targeting ATXN3 in SCA3 Mouse Models

(2017) Lauren R. Moore et al.   Molecular Therapy-Nucleic Acids

The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients

(2017) Andreas Neueder et al.   Scientific Reports

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

(2016) Conceição Bettencourt et al.   ANNALS OF NEUROLOGY

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

(2016) Melissa Ingram et al.   NEURON

4-aminopyridine reverses ataxia and cerebellar firing deficiency in a mouse model of spinocerebellar ataxia type 6

(2016) Sriram Jayabal et al.   Scientific Reports