(Q34613027)

English

Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

genome-wide association study

0 references

Cecilia Giulivi

11

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Birgit Puschner

object named as

Birgit Puschner

10

0 references

Salvatore DiMauro

14

object named as

Salvatore DiMauro

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

author name string

Karen M Vernau

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Jonathan A Runstadler

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Emily A Brown

3

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Jessie M Cameron

4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Heather J Huson

5

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Robert J Higgins

6

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Cameron Ackerley

7

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Beverly K Sturges

8

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Peter J Dickinson

9

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

G Diane Shelton

12

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Brian H Robinson

13

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Andrew W Bollen

15

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Danika L Bannasch

16

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

language of work or name

0 references

publication date

4 March 2013

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

e57195

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

copyright license

Creative Commons Attribution 4.0 International

4 March 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

CT and MRI of Wernicke's encephalopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

Leigh and Leigh-like syndrome in children and adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

Mitochondrial function and toxicity: role of B vitamins on the one-carbon transfer pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

Mitochondrial function and toxicity: role of the B vitamin family on mitochondrial energy metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

SLC19: the folate/thiamine transporter family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

Preservation of duplicate genes by complementary, degenerative mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

Experimentally induced thiamine deficiency in beagle dogs: pathologic changes of the central nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

Characterization of cytochrome-c oxidase mutants in human fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

7 July 2018

Leigh-like subacute necrotising encephalopathy in Yorkshire Terriers: neuropathological characterisation, respiratory chain activities and mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057195

21 January 2018

Biotin-responsive basal ganglia disease: a novel entity

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057195

21 January 2018

Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057195

21 January 2018

L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057195

21 January 2018

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057195

21 January 2018

Lactic acidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057195

21 January 2018

Increased throughput for fragment analysis on an ABI PRISM 377 automated sequencer using a membrane comb and STRand software

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3587633

26 October 2018

Subacute necrotising encephalopathy in an Alaskan husky

1 reference

https://pubmed.ncbi.nlm.nih.gov/23469184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thiamine deficiency in a cat associated with the preservation of 'pet meat' with sulphur dioxide

1 reference

https://pubmed.ncbi.nlm.nih.gov/23469184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Changes in rectal temperature and hematologic, biochemical, blood gas, and acid-base values in healthy Labrador Retrievers before and after strenuous exercise

1 reference

https://pubmed.ncbi.nlm.nih.gov/23469184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alaskan Husky encephalopathy--a canine neurodegenerative disorder resembling subacute necrotizing encephalomyelopathy (Leigh syndrome)

1 reference

https://pubmed.ncbi.nlm.nih.gov/23469184

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0057195

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

2013PLoSO...857195V

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

ResearchGate publication ID

0 references

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