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Collagen-like tail subunit

This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
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Top mentioned proteins: acetylcholinesterase, Cholinesterase, MuSK, FasT, CAN
Papers on ColQ
Reduced Expression of P2Y2 Receptor and Acetylcholinesterase at Neuromuscular Junction of P2Y1 Receptor Knock-out Mice.
Tsim et al., Hong Kong, Hong Kong. In J Mol Neurosci, 30 Nov 2015
In the analysis of the expression of anchoring subunits of AChE in P2Y1R (-/-) mice, the proline-rich membrane anchor (PRiMA) subunit was reduced by 60 %; while the collagen tail (ColQ) subunit was reduced by 50 %.
COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy.
Lyons et al., Columbia, United States. In Anim Genet, 16 Oct 2015
A genome-wide association study and whole-genome sequencing suggested a causal variant for this entity was a c.1190G>A variant causing a cysteine to tyrosine substitution (p.Cys397Tyr) within the C-terminal domain of collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ).
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.
Xu et al., Philadelphia, United States. In Neuromuscul Disord, Mar 2015
In patient 1, whole exome sequencing revealed compound heterozygous mutations c.1228C > T (p.Arg410Trp) and c.679C > T (p.Arg227*) in collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ).
Molecular characterization of an acetylcholinesterase from the hemichordate Saccoglossus kowalevskii.
Chatonnet et al., Birmingham, United States. In Comp Biochem Physiol B Biochem Mol Biol, Mar 2015
The cDNA codes for an AChE (AChE1), which is found in monomeric (G1), dimeric (G2), and tetrameric (G4) forms; and interacts with poly-L-proline, PRiMA, and ColQ, characteristic of an AChE possessing a T-peptide.
Collagen Q--a potential target for autoantibodies in myasthenia gravis.
Beeson et al., Oxford, United Kingdom. In J Neurol Sci, Feb 2015
One potential target is collagen Q (COLQ), which is restricted to the NMJ and is crucial for anchoring the NMJ-specific form of acetylcholinesterase (AChE).
Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.
Ohno et al., Nagoya, Japan. In Neuromuscul Disord, Jan 2015
Most CMS patients have been reported in Western and Middle Eastern countries, and only four patients with COLQ mutations have been reported in Japan.
A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome.
Tiret et al., Créteil, France. In Plos One, Dec 2014
In that region, we further identified COLQ (collagen-like tail subunit of asymmetric acetylcholinesterase) as a good candidate gene, since COLQ mutations were identified in affected humans and dogs with endplate acetylcholinesterase deficiency leading to a synaptic form of congenital myasthenic syndrome (CMS).
Collagen Q and anti-MuSK autoantibody competitively suppress agrin/LRP4/MuSK signaling.
Ohno et al., Nagoya, Japan. In Sci Rep, Dec 2014
MuSK also anchors the acetylcholinesterase (AChE)/collagen Q (ColQ) complex to the synaptic basal lamina.
SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.
Ohno et al., Nagoya, Japan. In Sci Rep, Dec 2014
The catalytic subunits of acetylcholinesterase (AChE) are anchored in the basal lamina of the neuromuscular junction using a collagen-like tail subunit (ColQ) encoded by COLQ.
Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.
Ali et al., Al `Ayn, United Arab Emirates. In Pediatr Neurol, Jul 2014
To date, all reported cases have been attributed to mutations in 18 genes including the COLQ gene that encodes a specific collagen that anchors acetylcholinesterase at the basal lamina of the neuromuscular junction.
Collagen Q is a key player for developing rational therapy for congenital myasthenia and for dissecting the mechanisms of anti-MuSK myasthenia gravis.
Ohtsuka et al., In J Mol Neurosci, Jul 2014
Acetylcholinesterase (AChE) at the neuromuscular junction (NMJ) is anchored to the synaptic basal lamina via a triple helical collagen Q (ColQ) in the form of asymmetric AChE (AChE/ColQ).
[Novel autoantibodies in myasthenia gravis].
Motomura et al., Nagasaki, Japan. In Nihon Rinsho, 2013
Anti-MuSK autoantibodies were revealed to block binding of collagen Q (ColQ) to MuSK.
Developmental consequences of the ColQ/MuSK interactions.
Legay et al., Paris, France. In Chem Biol Interact, 2013
CollagenQ (ColQ) is a specific collagen that anchors acetylcholinesterase (AChE) in the synaptic basal lamina of the neuromuscular junction (NMJ).
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
Membres du réseau national Syndromes Myasthéniques Congénitaux et al., Paris, France. In Rev Neurol (paris), 2013
The long-term prognosis of CMS was studied in a series of 79 patients recruited with the following gene mutations: CHRNA; CHRNE; DOK7; COLQ; RAPSN; AGRN; and MUSK.
Synaptic basal lamina-associated congenital myasthenic syndromes.
Wollmann et al., Davis, United States. In Ann N Y Acad Sci, 2012
Most important junctional BL proteins are collagens, such as collagen IV (α3-6), collagen XIII, and ColQ; laminins; nidogens; and heparan sulfate proteoglycans, such as perlecan and agrin.
Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations.
Stojkovic et al., Paris, France. In Neuromuscul Disord, 2012
Long-term follow-up of patients with COLQ mutations showed no genotype-phenotype correlation, 80% of patients were ambulant and 87% of patients had no respiratory trouble in spite of severe relapses.
Recurrent COLQ mutation in congenital myasthenic syndrome.
Anlar et al., Ankara, Turkey. In Pediatr Neurol, 2012
This study presented that four cases illustrate the clinical spectrum of the recurrent homozygous W148X mutation in the COLQ gene.
Distinct localization of collagen Q and PRiMA forms of acetylcholinesterase at the neuromuscular junction.
Krejci et al., Paris, France. In Mol Cell Neurosci, 2011
Data show that along the nerve terminus the vast majority of acetylcholinesterase is anchored by collagen Q that is only produced by the muscle, whereas very minor amounts of AChE are anchored by PRiMA that is produced by motoneurons.
Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
Ng et al., In Dev Med Child Neurol, 2010
two siblings have identical novel heterozygous mutations but different phenotypic expressions.
The asymmetric molecular forms of AChE and the expression of collagen Q in mature and immature fast and slow rat muscles.
Sketelj et al., Ljubljana, Slovenia. In Chem Biol Interact, 2010
extrajunctional levels of ColQ mRNA in non-innervated regenerating fast and slow muscles
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