A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme (Q57811369)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30341396%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

title

A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme (English)

1 reference

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29 April 2020

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1 reference

corrigendum / erratum

Author Correction: A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme

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1 reference

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29 April 2020

1 reference

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29 April 2020

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29 April 2020

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29 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30341396%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

Luca La Via

1 reference

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29 April 2020

Daniela Bonini

1 reference

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29 April 2020

Viola Ravasio

1 reference

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29 April 2020

Mohammed E A Elhussiny

1 reference

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29 April 2020

Flavia Orizio

1 reference

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29 April 2020

Fabrizio Gangemi

1 reference

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29 April 2020

Paolo Valsecchi

1 reference

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29 April 2020

Massimo Gennarelli

1 reference

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29 April 2020

language of work or name

English

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publication date

19 October 2018

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29 April 2020

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29 April 2020

volume

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29 April 2020

issue

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29 April 2020

page(s)

15470

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Creative Commons Attribution 4.0 International

29 April 2020

start time

19 October 2018

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April 2022 Public Data File from Crossref

copyrighted

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describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6195539/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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2 November 2018

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2 November 2018

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Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways

2 November 2018

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CSF GABA is reduced in first-episode psychosis and associates to symptom severity

2 November 2018

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Comprehensive association analysis of 27 genes from the GABAergic system in Japanese individuals affected with schizophrenia

2 November 2018

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Polygenic Risk Score associated with specific symptom dimensions in first-episode psychosis

2 November 2018

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No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study

2 November 2018

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Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

2 November 2018

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The GRM7 gene, early response to risperidone, and schizophrenia: a genome-wide association study and a confirmatory pharmacogenetic analysis

2 November 2018

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Schizophrenia risk from complex variation of complement component 4

2 November 2018

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Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.

2 November 2018

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Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia

2 November 2018

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Glutamate Decarboxylase 67 Deficiency in a Subset of GABAergic Neurons Induces Schizophrenia-Related Phenotypes

2 November 2018

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Investigation of Recessive Effects in Schizophrenia Using Next-Generation Exome Sequence Data

2 November 2018

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Compartmentalization of GABA synthesis by GAD67 differs between pancreatic beta cells and neurons

2 November 2018

1 reference

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Transcriptional regulation of GAD1 GABA synthesis gene in the prefrontal cortex of subjects with schizophrenia

2 November 2018

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No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia

2 November 2018

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Genetic risk for schizophrenia: convergence on synaptic pathways involved in plasticity

2 November 2018

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Biological insights from 108 schizophrenia-associated genetic loci

2 November 2018

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A polygenic burden of rare disruptive mutations in schizophrenia

2 November 2018

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De novo mutations in schizophrenia implicate synaptic networks

2 November 2018

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Genome-wide association analysis identifies 13 new risk loci for schizophrenia

2 November 2018

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2 November 2018

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Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia

2 November 2018

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Disease- and age-related changes in histone acetylation at gene promoters in psychiatric disorders

2 November 2018

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Runs of homozygosity implicate autozygosity as a schizophrenia risk factor

2 November 2018

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2 November 2018

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Genome-wide association study identifies five new schizophrenia loci

2 November 2018

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Expression of GABA Signaling Molecules KCC2, NKCC1, and GAD1 in Cortical Development and Schizophrenia

2 November 2018

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2 November 2018

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2 November 2018

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Two distinct mechanisms target GAD67 to vesicular pathways and presynaptic clusters

2 November 2018

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GABA concentration is reduced in visual cortex in schizophrenia and correlates with orientation-specific surround suppression

2 November 2018

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2 November 2018

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2 November 2018

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2 November 2018

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2 November 2018

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Adult and embryonic GAD transcripts are spatiotemporally regulated during postnatal development in the rat brain

2 November 2018

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Prefrontal dysfunction in schizophrenia involves mixed-lineage leukemia 1-regulated histone methylation at GABAergic gene promoters

2 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

GAD1 mRNA expression and DNA methylation in prefrontal cortex of subjects with schizophrenia

2 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

GABA production by glutamic acid decarboxylase is regulated by a dynamic catalytic loop

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

The neurochemical circuitry of schizophrenia

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

Glutamate decarboxylase: loss of N-terminal segment does not affect homodimerization and determination of the oxidation state of cysteine residues

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

GAD1 (2q31.1), which encodes glutamic acid decarboxylase (GAD67), is associated with childhood-onset schizophrenia and cortical gray matter volume loss

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

Structural features and regulatory properties of the brain glutamate decarboxylases

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

Measurement of GABAergic parameters in the prefrontal cortex in schizophrenia: focus on GABA content, GABA(A) receptor alpha-1 subunit messenger RNA and human GABA transporter-1 (HGAT-1) messenger RNA expression

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

Cleft palate and decreased brain gamma-aminobutyric acid in mice lacking the 67-kDa isoform of glutamic acid decarboxylase

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

Distinct protein forms are produced from alternatively spliced bicistronic glutamic acid decarboxylase mRNAs during development

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

Distribution of GABA in post-mortem brain tissue from control, psychotic and Huntington's chorea subjects.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

Neurotransmitters, receptors and neuropeptides in post-mortem brains of chronic schizophrenic patients.

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

Developmentally regulated expression of an exon containing a stop codon in the gene for glutamic acid decarboxylase

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

Gamma-aminobutyric-acid deficiency in brain of schizophrenic patients

2 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6195539

Allelic variation in GAD1 (GAD67) is associated with schizophrenia and influences cortical function and gene expression

2 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41598-018-33924-8

inferred from DOI database lookup

7 January 2021

based on heuristic

Heteromers of glutamate decarboxylase isoforms occur in rat cerebellum

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS41598-018-33924-8

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/S41598-018-33924-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30341396%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30341396%20AND%20SRC:MED&resulttype=core&format=json

29 April 2020

PubMed publication ID

30341396

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30341396%20AND%20SRC:MED&resulttype=core&format=json