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Article

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.

Human genetics - 1 May 2014

Arredondo Juan, Lara Marian, Ng Fiona, Gochez Danielle A, Lee Diana C, Logia Stephanie P, Nguyen Joanna, Maselli Ricardo A

Abstract excerpt

Collagen Q (ColQ) is a key multidomain functional protein of the neuromuscular junction (NMJ), crucial for anchoring acetylcholinesterase (AChE) to the basal lamina (BL) and accumulating AChE at the NMJ. The attachment of AChE to the BL is primarily accomplished by the binding of the ColQ collagen domain to the heparan sulfate proteoglycan perlecan and the COOH-terminus to the muscle-specific receptor tyrosine...

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Share to Acetylcholinesterase
Share to Basement Membrane

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chlorocebus aethiops

Share to Chromatography, Liquid

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Share to Myasthenic Syndromes, Congenital

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Source

Open in PubMed Open full text

Identifiers

PMID: 24281389
DOI: 10.1007/s00439-013-1391-3
PMCID: PMC4024244

Genes

COLQ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.PMID 24281389Read ↗

Mutations in the C-Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ-MuSK InteractionSemantic proximity Read ↗

C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse.Semantic proximity Read ↗

MuSK is required for anchoring acetylcholinesterase at the neuromuscular junction.Semantic proximity Read ↗

Developmental consequences of the ColQ/MuSK interactions.Semantic proximity Read ↗

Structural and functional organization of synaptic acetylcholinesterase.Semantic proximity Read ↗

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.Semantic proximity Read ↗

The spectrum of mutations causing end-plate acetylcholinesterase deficiency.Semantic proximity Read ↗

Cholinesterases regulation in the absence of ColQ.Semantic proximity Read ↗

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic).Semantic proximity Read ↗

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.Semantic proximity Read ↗

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.Semantic proximity Read ↗

Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.Semantic proximity Read ↗

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