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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, FasT, MuSK, CAN
Papers on 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, 01 Jan 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.
Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.
Ohno et al., Nagoya, Japan. In Neuromuscul Disord, Oct 2014
Most CMS patients have been reported in Western and Middle Eastern countries, and only four patients with COLQ mutations have been reported in Japan.
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.
Most acetylcholinesterase activity of non-nervous tissues and cells arises from the AChE-H transcript.
Vidal et al., Murcia, Spain. In J Mol Neurosci, Jul 2014
While the functional implications of AChE-T, PRiMA and ColQ have been firmly established, those of glypiated AChE remain uncertain.
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).
COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.
Maselli et al., Davis, United States. In Hum Genet, May 2014
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.
Muscle-specific kinase antibodies: a novel cause of peripheral nerve hyperexcitability?
Layzer et al., San Francisco, United States. In Muscle Nerve, Nov 2013
CONCLUSIONS: We hypothesize that MuSK antibodies may induce these phenotypes through disruptive actions at the NMJ, in particular the binding of acetylcholinesterase (AChE) to MuSK via its collagen Q (ColQ) tail, producing a reduction in synaptic AChE activity.
A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.
Beeson et al., Oxford, United Kingdom. In Exp Neurol, Oct 2013
Ephedrine and salbutamol show clear benefit when used in the treatment of DOK7 or COLQ congenital myasthenic syndromes.
Functional Analysis and Molecular Docking studies of Medicinal Compounds for AChE and BChE in Alzheimer's Disease and Type 2 Diabetes Mellitus.
Anusha et al., Vishākhapatnam, India. In Aging Dis, Aug 2013
The present studies is also accomplished that AChE, BChE, COLQ, HAND1, APP, NLGN2 and NGF proteins has interactions with diseases such as Alzheimer's and D2M using Pathwaylinker and STRING.
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
Ohno et al., Nagoya, Japan. In Hum Mutat, Jul 2013
Acetylcholinesterase (AChE) at the neuromuscular junction (NMJ) is mostly composed of an asymmetric form in which three tetramers of catalytic AChE subunits are linked to a triple helical collagen Q (ColQ).
[Novel autoantibodies in myasthenia gravis].
Motomura et al., Nagasaki, Japan. In Nihon Rinsho, May 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, Apr 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), Feb 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.
Congenital myasthenic syndrome: a brief review.
Werneck et al., Curitiba, Brazil. In Pediatr Neurol, 2012
Therefore, genetic testing may be necessary to identify specific mutations in CHAT, COLQ, LAMB2, CHRNA, CHRNB, CHRND, CHRNE, CHRNG, RAPSN, DOK7, MUSK, AGRN, SCN4A, GFPT1, or PLEC1 genes.
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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