(Q24533166)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

title

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference

ethylmalonic encephalopathy

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Massimo Zeviani

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Paolo Gasparini

0 references

Shamima Rahman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Egill Briem

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Gianfrancesco Ferrari

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Rossana Mineri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Hanna Mandel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Paolo Balestri

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Maria-Teresa Garcia-Silva

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Piero Rinaldo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

Si Houn Hahn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

James Leonard

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

language of work or name

English

0 references

publication date

19 January 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

17 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

page(s)

239-252

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

17 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

The human mitochondrial transcription termination factor (mTERF) is a multizipper protein but binds to DNA as a monomer, with evidence pointing to intramolecular leucine zipper interactions.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Molecular cloning, heterologous expression, and characterization of human glyoxalase II

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

The glyoxalase system: new developments towards functional characterization of a metabolic pathway fundamental to biological life

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Strategies for multilocus linkage analysis in humans

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Mitochondrial membrane remodelling regulated by a conserved rhomboid protease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Identification and Phenotypic Analysis of Two Glyoxalase II Encoding Genes from Saccharomyces cerevisiae,GLO2 and GLO4, and Intracellular Localization of the Corresponding Proteins

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Identification of ethylmalonic acid in urine of two patients with the vomitting sickness of Jamaica

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

A novel protein overexpressed in hepatoma accelerates export of NF-kappa B from the nucleus and inhibits p53-dependent apoptosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

An evolutionary classification of the metallo-beta-lactamase fold proteins.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Heterologous expression, purification, and kinetic comparison of the cytoplasmic and mitochondrial glyoxalase II enzymes, Glo2p and Glo4p, from Saccharomyces cerevisiae.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Biogenesis of mitochondria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Isolation of glyoxalase II from two different compartments of rat liver mitochondria. Kinetic and immunochemical characterization of the enzymes

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Ethylmalonic encephalopathy: further clinical and neuroradiological characterization.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181922

The active-site residue tyr-175 in human glyoxalase II contributes to binding of glutathione derivatives

29 November 2018

1 reference

12 December 2020

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Isolation of glyoxalase II from bovine liver mitochondria

1 reference

12 December 2020

New clinical phenotype of branched-chain acyl-CoA oxidation defect

1 reference

12 December 2020

Muscle cytochromec oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype

1 reference

12 December 2020

Identifiers

DOI

10.1086/381653

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

OpenCitations bibliographic resource ID

17 November 2019

1892070

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

PubMed publication ID

14732903

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14732903%20AND%20SRC:MED&resulttype=core&format=json