(Q34121266)

31 July 2017

title

Neuroligin trafficking deficiencies arising from mutations in the alpha/beta-hydrolase fold protein family (English)

1 reference

31 July 2017

0 references

1 reference

9

Roger Y Tsien

1 reference

31 July 2017

Antonella De Jaco

1

1 reference

31 July 2017

Michael Z Lin

2

1 reference

31 July 2017

Noga Dubi

3

1 reference

31 July 2017

Davide Comoletti

4

1 reference

31 July 2017

Meghan T Miller

5

1 reference

31 July 2017

Shelley Camp

6

1 reference

31 July 2017

Mark Ellisman

7

1 reference

31 July 2017

Margaret T Butko

8

1 reference

31 July 2017

Palmer Taylor

10

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31 July 2017

language of work or name

English

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publication date

8 July 2010

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31 July 2017

number of pages

9

1 reference

Journal of Biological Chemistry

inferred from page(s)

published in

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31 July 2017

volume

285

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31 July 2017

issue

37

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31 July 2017

page(s)

28674-28682

1 reference

describes a project that uses

31 July 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2937894/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Alpha/beta hydrolase fold: an update

5 July 2018

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Neuroligins and neurexins link synaptic function to cognitive disease

5 July 2018

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5 July 2018

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The cholinesterase-like domain of thyroglobulin functions as an intramolecular chaperone.

5 July 2018

1 reference

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A drug-controllable tag for visualizing newly synthesized proteins in cells and whole animals

5 July 2018

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5 July 2018

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5 July 2018

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Structures of neuroligin-1 and the neuroligin-1/neurexin-1 beta complex reveal specific protein-protein and protein-Ca2+ interactions

5 July 2018

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Structural analysis of the synaptic protein neuroligin and its beta-neurexin complex: determinants for folding and cell adhesion

5 July 2018

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Structural basis for synaptic adhesion mediated by neuroligin-neurexin interactions

5 July 2018

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5 July 2018

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A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice

5 July 2018

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Activity-dependent validation of excitatory versus inhibitory synapses by neuroligin-1 versus neuroligin-2

5 July 2018

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Oxidoreductase interactions include a role for ERp72 engagement with mutant thyroglobulin from the rdw/rdw rat dwarf

5 July 2018

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High frequency of neurexin 1beta signal peptide structural variants in patients with autism

5 July 2018

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Protein disulfide isomerase-like proteins play opposing roles during retrotranslocation

5 July 2018

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Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism

5 July 2018

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A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the alpha,beta-hydrolase fold protein family

5 July 2018

1 reference

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Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome

5 July 2018

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Naturally occurring mutations in the thyroglobulin gene

5 July 2018

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Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism

5 July 2018

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5 July 2018

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Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

Protein disulfide isomerase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

Disorder-associated mutations lead to functional inactivation of neuroligins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

Making connections: cholinesterase-domain proteins in the CNS.

5 July 2018

1 reference

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Characterization of the Interaction of a Recombinant Soluble Neuroligin-1 with Neurexin-1β

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

Orchestrating the unfolded protein response in health and disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

Dynamic interaction of BiP and ER stress transducers in the unfolded-protein response

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

Neuroligin 1 is a postsynaptic cell-adhesion molecule of excitatory synapses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

Perturbation of Hsp90 interaction with nascent CFTR prevents its maturation and accelerates its degradation by the proteasome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

The alpha/beta fold family of proteins database and the cholinesterase gene server ESTHER

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

Structures, alternative splicing, and neurexin binding of multiple neuroligins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

The alpha/beta hydrolase fold

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

Gene selection, alternative splicing, and post-translational processing regulate neuroligin selectivity for beta-neurexins

5 July 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.139519

Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G-->A [R2223H]) resulting in fetal goitrous hypothyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.139519

Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.139519

Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.139519

Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M110.139519

[Autism: more evidence of a genetic cause].

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

A novel missense mutation (G2320R) in thyroglobulin causes hypothyroidism in rdw rats

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2937894

A missense mutation G2320R in the thyroglobulin gene causes non-goitrous congenital primary hypothyroidism in the WIC-rdw rat

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20615874

12 December 2020

inferred from PubMed ID database lookup

Chemical modification of Torpedo acetylcholinesterase by disulfides: appearance of a "molten globule" state

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20615874

12 December 2020

inferred from PubMed ID database lookup

Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20615874

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1074/JBC.M110.139519

1 reference

31 July 2017

1 reference

31 July 2017

1 reference