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Article

Developmental consequences of the ColQ/MuSK interactions.

Chemico-biological interactions - 25 Mar 2013

Karmouch Jennifer, Dobbertin Alexandre, Sigoillot Severine, Legay Claire

Abstract excerpt

CollagenQ (ColQ) is a specific collagen that anchors acetylcholinesterase (AChE) in the synaptic basal lamina of the neuromuscular junction (NMJ). Over 30 mutations in the COLQ gene have been identified that are responsible for a congenital myasthenic syndrome with AChE deficiency, highlighting the importance of this collagen in the physiology of the NMJ. The anchoring of AChE at the synapse requires the...

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Source

Identifiers

PMID: 23089045
DOI: 10.1016/j.cbi.2012.10.006

Genes

LRP4
COLQ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Developmental consequences of the ColQ/MuSK interactions.PMID 23089045Read ↗

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

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

The synaptic muscle‐specific kinase (MuSK) complex: New partners, new functionsSemantic proximity Read ↗

Synaptic basal lamina-associated congenital myasthenic syndromes.Semantic proximity Read ↗

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

[Molecular bases and therapeutic strategies in defective neuromuscular transmissions: lessons learned from a prototypical synapse].Semantic proximity Read ↗

The MuSK-BMP pathway regulates synaptic Nav1.4 localization and muscle excitabilitySemantic proximity Read ↗

[Congenital myasthenic syndromes].Semantic proximity Read ↗

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

LRP4 Is Critical for Neuromuscular Junction MaintenanceSemantic proximity Read ↗

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

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