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

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

(2019) Letko et al.   Genes

Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs

(2019) Mario Van Poucke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2019) V. Jagannathan et al.   ANIMAL GENETICS

Hereditary ataxia in four related Norwegian Buhunds

(2018) Lorenzo Mari et al.   JAVMA-JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION

A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2)

(2017) Nico Mauri et al.   G3-Genes Genomes Genetics

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

(2016) Ziv Gan-Or et al.   AMERICAN JOURNAL OF HUMAN 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 HomozygousRAB3GAP1:c.743delCMutation in Rottweilers with Neuronal Vacuolation and Spinocerebellar Degeneration

(2016) T. Mhlanga-Mutangadura et al.   JOURNAL OF VETERINARY INTERNAL MEDICINE

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

Different KChIPs Compete for Heteromultimeric Assembly with Pore-Forming Kv4 Subunits

(2015) Jingheng Zhou et al.   BIOPHYSICAL JOURNAL

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

(2015) Katrien Smets et al.   BMC Medical Genetics

Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner

(2015) Anna Duarri et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Ataxia

(2015) Umar Akbar et al.   NEUROLOGIC CLINICS

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

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Canine Hereditary Ataxia

(2014) Ganokon Urkasemsin et al.   VETERINARY CLINICS OF NORTH AMERICA-SMALL ANIMAL PRACTICE

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

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

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

Mutations in potassium channelkcnd3cause spinocerebellar ataxia type 19

(2012) Anna Duarri et al.   ANNALS OF NEUROLOGY

Mutations inKCND3cause spinocerebellar ataxia type 22

(2012) Yi-Chung Lee et al.   ANNALS OF NEUROLOGY

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

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

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A Smoothed Backbone-Dependent Rotamer Library for Proteins Derived from Adaptive Kernel Density Estimates and Regressions

(2011) Maxim V. Shapovalov et al.   STRUCTURE

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Interdependent Roles for Accessory KChIP2, KChIP3, and KChIP4 Subunits in the Generation of Kv4-Encoded IA Channels in Cortical Pyramidal Neurons

(2010) A. J. Norris et al.   JOURNAL OF NEUROSCIENCE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Structural Insights into KChIP4a Modulation of Kv4.3 Inactivation

(2008) Ping Liang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY