A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration

A PNPLA8 frameshift variant in Australian shepherd dogs with hereditary ataxia

(2022) Marie Abitbol et al.   ANIMAL GENETICS

Cerebellar Abiotrophy in Australian Working Kelpies Is Associated with Two Major Risk Loci

(2022) Claire M. Wade et al.   Genes

Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant

(2022) Kimberley Stee et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Deletion of the SELENOP gene leads to CNS atrophy with cerebellar ataxia in dogs

(2021) Matthias Christen et al.   PLoS Genetics

Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs

(2020) Christopher A. Jenkins et al.   PLoS Genetics

Sacs R272C missense homozygous mice develop an ataxia phenotype

(2019) Roxanne Larivière et al.   Molecular Brain

A Missense Variant in SCN8A in Alpine Dachsbracke Dogs Affected by Spinocerebellar Ataxia

(2019) Letko et al.   Genes

Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology

(2019) Jocelyn Plassais et al.   Nature Communications

A comprehensive biomedical variant catalogue based on whole genome sequences of 582 dogs and eight wolves

(2019) V. Jagannathan et al.   ANIMAL GENETICS

A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases

(2019) Georgia Xiromerisiou et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics

(2018) Benoit J. Gentil et al.   FASEB JOURNAL

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin

(2017) Emma J. Duncan et al.   HUMAN MOLECULAR GENETICS

Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed

(2016) Joe Fenn et al.   BMC GENETICS

A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay

(2016) Teisha Y. Bradshaw et al.   HUMAN MOLECULAR GENETICS

Retinal nerve fiber layer thickening in ARSACS carriers

(2016) Michel van Lint et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities

(2016) Zafar Ali et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1)

(2016) Nico Mauri et al.   G3-Genes Genomes Genetics

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

(2015) Julie Pilliod et al.   ANNALS OF NEUROLOGY

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay

(2015) Chiara Criscuolo et al.   JOURNAL OF NEUROLOGY

A Deletion in the VLDLR Gene in Eurasier Dogs with Cerebellar Hypoplasia Resembling a Dandy-Walker-Like Malformation (DWLM)

(2015) Martina Gerber et al.   PLoS One

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

(2014) Roxanne Larivière et al.   HUMAN MOLECULAR GENETICS

A HomozygousKCNJ10Mutation in Jack Russell Terriers and Related Breeds with Spinocerebellar Ataxia with Myokymia, Seizures, or Both

(2014) D. Gilliam et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1

(2014) Oliver P. Forman et al.   MAMMALIAN GENOME

Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24

(2014) Caryline Agler et al.   PLoS Genetics

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

(2013) Matthis Synofzik et al.   Orphanet Journal of Rare Diseases

Missense Mutation in CAPN1 Is Associated with Spinocerebellar Ataxia in the Parson Russell Terrier Dog Breed

(2013) Oliver P. Forman et al.   PLoS One

Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation

(2012) Oliver P Forman et al.   BMC GENETICS

Retinal nerve fibre layer thickness in ARSACS: myelination or hypertrophy?

(2012) Elena Garcia-Martin et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Degenerative myelopathy associated with a missense mutation in the superoxide dismutase 1 (SOD1) gene progresses to peripheral neuropathy in Pembroke Welsh Corgis and Boxers

(2012) G. Diane Shelton et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

Mechanism of Oxidative Stress in Neurodegeneration

(2012) Sonia Gandhi et al.   Oxidative Medicine and Cellular Longevity

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

(2012) M. Girard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cerebellar Cognitive Affective Syndrome and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: A Report of Two Male Sibs

(2012) Willem M.A. Verhoeven et al.   PSYCHOPATHOLOGY

A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

(2012) Kaisa Kyöstilä et al.   PLoS Genetics

Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease

(2011) Benoit J. Gentil et al.   FASEB JOURNAL

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

(2011) Guennadi Kozlov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Neurodegenerative-Disease-Related Protein Sacsin Is a Molecular Chaperone

(2011) John F. Anderson et al.   JOURNAL OF MOLECULAR BIOLOGY

A Truncated Retrotransposon Disrupts the GRM1 Coding Sequence in Coton de Tulear Dogs with Bandera's Neonatal Ataxia

(2011) R. Zeng et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

Autosomal recessive spastic ataxia of Charlevoix–Saguenay: An overview

(2011) Yosr Bouhlal et al.   PARKINSONISM & RELATED DISORDERS

Comparison of Retinal Nerve Fiber Layer Thickness in Normal Eyes Using Time-Domain and Spectral-Domain Optical Coherence Tomography

(2010) Leonard K. Seibold et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

The Sacsin Repeating Region (SRR): A Novel Hsp90-Related Supra-Domain Associated with Neurodegeneration

(2010) John F. Anderson et al.   JOURNAL OF MOLECULAR BIOLOGY

Mutations in SACS cause atypical and late-onset forms of ARSACS

(2010) J. Baets et al.   NEUROLOGY

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

(2009) David A. Parfitt et al.   HUMAN MOLECULAR GENETICS

Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases

(2009) H. Chen et al.   HUMAN MOLECULAR GENETICS

Vimentin supports mitochondrial morphology and organization

(2008) Ho Lam Tang et al.   BIOCHEMICAL JOURNAL

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

(2008) Sascha Vermeer et al.   NEUROGENETICS