(Q24655953)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16183799%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

ETHE1 mutations are specific to ethylmalonic encephalopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16183799%20AND%20SRC:MED&resulttype=core&format=json

ethylmalonic encephalopathy

7 January 2020

main subject

1 reference

1

1 reference

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7 January 2020

Eleonora Lamantea

3

1 reference

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7 January 2020

Elena Papaleo

5

1 reference

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7 January 2020

Fabio Forlani

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16183799%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

author name string

E Briem

2

1 reference

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7 January 2020

R Mineri

4

1 reference

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7 January 2020

L De Gioia

6

1 reference

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7 January 2020

P Rinaldo

8

1 reference

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7 January 2020

P Dickson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16183799%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

B Abu-Libdeh

10

1 reference

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7 January 2020

L Cindro-Heberle

11

1 reference

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7 January 2020

M Owaidha

12

1 reference

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7 January 2020

R M Jack

13

1 reference

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7 January 2020

E Christensen

14

1 reference

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7 January 2020

A Burlina

15

1 reference

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7 January 2020

M Zeviani

16

1 reference

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7 January 2020

language of work or name

English

0 references

publication date

23 September 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16183799%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

7 January 2020

published in

1 reference

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7 January 2020

volume

43

1 reference

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7 January 2020

issue

4

1 reference

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7 January 2020

page(s)

340-346

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16183799%20AND%20SRC:MED&resulttype=core&format=json

The Human hydroxyacylglutathione hydrolase (HAGH) gene encodes both cytosolic and mitochondrial forms of glyoxalase II

7 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

Crystal structure of human glyoxalase II and its complex with a glutathione thiolester substrate analogue

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

T-Coffee: A novel method for fast and accurate multiple sequence alignment

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

The PSIPRED protein structure prediction server

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

WHAT IF: a molecular modeling and drug design program

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

3D-Jury: a simple approach to improve protein structure predictions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

JPred: a consensus secondary structure prediction server

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

Glyoxalase II of African trypanosomes is trypanothione-dependent

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

Blue Native electrophoresis to study mitochondrial and other protein complexes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

Functional control of the binuclear metal site in the metallo-beta-lactamase-like fold by subtle amino acid replacements

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

Expansion of the zinc metallo-hydrolase family of the beta-lactamase fold

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

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=2563233

Structure and energetics of ligand binding to proteins: Escherichia coli dihydrofolate reductase-trimethoprim, a drug-receptor system.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency

19 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563233

Brain mitochondrial impairment in ethylmalonic encephalopathy

28 November 2018

1 reference

12 December 2020

Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

Sudden infant death and multiple acyl-CoA dehydrogenation disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2005.036210

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16183799%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16183799%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

PubMed publication ID

16183799

2 references