(Q30422925)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

title

Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Peter Lyons

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

author name string

Annick Salzmann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Monique Vessaz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Arielle Crespel

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Alain Malafosse

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

Lloyd D Fricker

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

language of work or name

English

0 references

publication date

26 October 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

16 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

volume

287

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

issue

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

page(s)

42900-42909

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

16 February 2020

PyMOL

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&rettype=xml&id=PMC3522286

cites work

Genetics of temporal lobe epilepsy: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

SignalP 4.0: discriminating signal peptides from transmembrane regions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

A standard orientation for metallopeptidases

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Carboxypeptidase A6 in zebrafish development and implications for VIth cranial nerve pathfinding

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Substrate specificity of human carboxypeptidase A6.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Sodium channel SCN1A and epilepsy: mutations and mechanisms

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Augmented currents of an HCN2 variant in patients with febrile seizure syndromes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Mutation scanning using high-resolution melting

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Progress in searching for the febrile seizure susceptibility genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

A catalog of SCN1A variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Characterization of carboxypeptidase A6, an extracellular matrix peptidase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

20 June 2018

THE HARDY-WEINBERG LAW.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Susceptibility genes for complex epilepsy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Identification and distribution of mouse carboxypeptidase A-6.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Fever, genes, and epilepsy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Identification and characterization of three members of the human metallocarboxypeptidase gene family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Ion channel variation causes epilepsies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Metallocarboxypeptidases and their protein inhibitors. Structure, function and biomedical properties

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Descriptive epidemiology of epilepsy: contributions of population-based studies from Rochester, Minnesota

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Role of the prodomain in folding and secretion of rat pancreatic carboxypeptidase A1.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Complex segregation analysis of febrile convulsions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

Genetics of the partial epilepsies: a review

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

National General Practice Study of Epilepsy: newly diagnosed epileptic seizures in a general population

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522286

ETIOLOGY AND PATHOGENESIS OF TEMPORAL LOBE EPILEPSY.

20 June 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.414094

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.414094

Rank truncated product of P-values, with application to genomewide association scans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.414094

Comparing the effect on protein stability of methionine oxidation versus mutagenesis: steps toward engineering oxidative resistance in proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.414094

Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.414094

A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.414094

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.414094

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.414094

Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.414094

Methylation-sensitive high-resolution melting

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M112.414094

Structure and mechanism of metallocarboxypeptidases

21 January 2018

1 reference

12 December 2020

The prevalence and incidence of convulsive disorders in children

1 reference

12 December 2020

Simultaneous mutation scanning and genotyping by high-resolution DNA melting analysis

1 reference

12 December 2020

Consensus statement. Febrile seizures: long-term management of children with fever-associated seizures

1 reference

12 December 2020

Replication of association between a SCN1A splice variant and febrile seizures

1 reference

12 December 2020

Age-specific incidence and prevalence rates of treated epilepsy in an unselected population of 2,052,922 and age-specific fertility rates of women with epilepsy

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M112.414094

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json

16 February 2020

PubMed publication ID

23105115

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23105115%20AND%20SRC:MED&resulttype=core&format=json