(Q27318512)

9

0 references

Snaevar Sigurdsson

Snaevar Sigurdsson

6

0 references

Andrew Singleton

4

Andrew Singleton

0 references

Dena G. Hernandez

10

Dena Hernandez

0 references

Alison Motsinger-Reif

13

Alison Motsinger-Reif

0 references

Noriko Tonomura

5

Noriko Tonomura

0 references

Natasha J Olby

18

Natasha J Olby

0 references

Ganokon Urkasemsin

3

Ganokon Urkasemsin

0 references

Jerold Bell

15

Jerold Bell

0 references

Joyce van de Leemput

12

Joyce van de Leemput

0 references

author name string

Caryline Agler

1

0 references

Dahlia M Nielsen

2

0 references

Ruqi Tang

7

0 references

Keith Linder

8

0 references

Dennis P O'Brien

14

0 references

Tonya Harris

16

0 references

Steven Steinberg

Creative Commons CC0 License

17

0 references

language of work or name

English

0 references

publication date

February 2014

0 references

published in

PLOS Genetics

0 references

volume

10

0 references

issue

2

0 references

page(s)

e1003991

0 references

copyright license

start time

6 February 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted, dedicated to the public domain by copyright holder

0 references

cites work

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A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery

21 March 2017

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Network organization of the human autophagy system

21 March 2017

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Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication

21 March 2017

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Fast and accurate short read alignment with Burrows-Wheeler transform

21 March 2017

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PLINK: a tool set for whole-genome association and population-based linkage analyses

21 March 2017

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Genome sequence, comparative analysis and haplotype structure of the domestic dog

21 March 2017

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A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]

21 March 2017

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Mutant Rab24 GTPase is targeted to nuclear inclusions

21 March 2017

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Structural basis of activation and GTP hydrolysis in Rab proteins

21 March 2017

1 reference

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Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM)

21 March 2017

1 reference

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Abiotrophy in domestic animals: a review

21 March 2017

1 reference

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

21 March 2017

1 reference

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A method and server for predicting damaging missense mutations

21 March 2017

1 reference

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Rab proteins as membrane organizers

21 March 2017

1 reference

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Primer3 on the WWW for general users and for biologist programmers

21 March 2017

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Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

21 March 2017

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Loss of autophagy in the central nervous system causes neurodegeneration in mice

21 March 2017

1 reference

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Cerebellar abiotrophy in a family of Border Collie dogs

21 March 2017

1 reference

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Genetic structure of the purebred domestic dog

21 March 2017

1 reference

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Impairment of starvation-induced and constitutive autophagy in Atg7-deficient mice

21 March 2017

1 reference

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Integrative genomics viewer

21 March 2017

1 reference

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

7 April 2017

1 reference

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SSAHA: a fast search method for large DNA databases

7 April 2017

1 reference

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Mitophagy and Parkinson's disease: be eaten to stay healthy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

The ubiquitin-proteasome system and the autophagic-lysosomal system in Alzheimer disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction

28 September 2017

1 reference

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The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics

28 September 2017

1 reference

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Brain pathology of spinocerebellar ataxias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Genomic analyses of modern dog breeds

28 September 2017

1 reference

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Sporadic adult-onset ataxia of unknown etiology

28 September 2017

1 reference

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Involvement of members of the Rab family and related small GTPases in autophagosome formation and maturation

28 September 2017

1 reference

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28 September 2017

1 reference

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Deconstruction for reconstruction: the role of proteolysis in neural plasticity and disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Ubiquitin accumulation in autophagy-deficient mice is dependent on the Nrf2-mediated stress response pathway: a potential role for protein aggregation in autophagic substrate selection

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Role of ubiquitin-proteasome-mediated proteolysis in nervous system disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Postnatal cerebellar cortical degeneration in Labrador Retriever puppies

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Constitutive autophagy: vital role in clearance of unfavorable proteins in neurons.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Autophagy and neurodegeneration.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Spectrin mutations cause spinocerebellar ataxia type 5.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Macroautophagy--a novel Beta-amyloid peptide-generating pathway activated in Alzheimer's disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

The pathogenesis of spinocerebellar ataxia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Rab24 is an atypical member of the Rab GTPase family. Deficient GTPase activity, GDP dissociation inhibitor interaction, and prenylation of Rab24 expressed in cultured cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Molecular cloning and subcellular localization of three GTP-binding proteins of the rab subfamily.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Cerebellar cortical degeneration in a Labrador retriever

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Implementing a unified approach to family-based tests of association.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Canine inherited ataxia: ultrastructural observations

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Rab24 is required for normal cell division.

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Mapping of Purkinje neuron loss and polyglucosan body accumulation in hereditary cerebellar degeneration in Scottish terriers

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

A truncated retrotransposon disrupts the GRM1 coding sequence in Coton de Tulear dogs with Bandera's neonatal ataxia.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Development of a morphometric magnetic resonance image parameter suitable for distinguishing between normal dogs and dogs with cerebellar atrophy

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Hereditary cerebellar degeneration in Scottish terriers

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Cerebellar cortical degeneration with selective granule cell loss in Bavarian mountain dogs

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Development and evaluation of canine reference genes for accurate quantification of gene expression.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Chromosome-specific microsatellite multiplex sets for linkage studies in the domestic dog

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

PerlPrimer: cross-platform, graphical primer design for standard, bisulphite and real-time PCR.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Cerebellar granuloprival degeneration in an Italian hound

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Neonatal cerebellar ataxia in Coton de Tulear dogs

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Induction of autophagy causes dramatic changes in the subcellular distribution of GFP-Rab24.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

The mammalian Rab family of small GTPases: definition of family and subfamily sequence motifs suggests a mechanism for functional specificity in the Ras superfamily

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Late-onset progressive spinocerebellar degeneration in Brittany Spaniel dogs

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3916225

Cerebellar degeneration in Old English Sheepdogs

28 November 2018

1 reference

12 December 2020

Induced expressions of Rab24 GTPase and LC3 in nerve-injured motor neurons

1 reference

12 December 2020

Hereditary cerebellar cortical abiotrophy in the Gordon Setter

1 reference

12 December 2020

Cerebellar abiotrophy characterized by granular cell loss in a Brittany

1 reference

12 December 2020

Canine inherited ataxia

1 reference

12 December 2020

Clinical features of inherited cerebellar degeneration in Gordon setters

1 reference

12 December 2020

Presumed immune-mediated cerebellar granuloprival degeneration in the Coton de Tuléar breed

1 reference

12 December 2020

Synaptic neurochemical alterations associated with neuronal degeneration in an inherited cerebellar ataxia of Gordon Setters

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1003991

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

24516392

1 reference