Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) (Q24318586)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

title

Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

succinic semialdehyde dehydrogenase deficiency

13 November 2019

main subject

0 references

Aldehyde dehydrogenase 5 family member A1

1 reference

gamma-aminobutyric acid catabolic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

K L Chambliss

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

D D Hinson

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

C Jakobs

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

K M Gibson

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

language of work or name

English

0 references

publication date

1 August 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

13 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

page(s)

399-408

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression

13 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=1377305

Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

Structural features in eukaryotic mRNAs that modulate the initiation of translation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

Aldehyde dehydrogenases: widespread structural and functional diversity within a shared framework

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

Purification from human brain and some properties of two NADPH-linked aldehyde reductases which reduce succinic semialdehyde to 4-hydroxybutyrate

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric 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=1377305

Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

The first adult case with 4-hydroxybutyric 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=1377305

4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

Succinic semialdehyde dehydrogenase from mammalian brain: subunit analysis using polyclonal antiserum

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

Enzymatic and immunological demonstration of normal and defective succinic semialdehyde dehydrogenase activity in fetal brain, liver and kidney

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

Succinic semialdehyde dehydrogenase deficiency--a further case.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377305

Cleavage-site motifs in mitochondrial targeting peptides

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9683595

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9683595

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Human Succinic Semialdehyde Dehydrogenase

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F301964

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1086/301964

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

PubMed publication ID

9683595

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683595%20AND%20SRC:MED&resulttype=core&format=json