Citations for
1CMS1C, COLQ
Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
Yeung WL, Lam CW, Ng PC.
Dev Med Child Neurol ev Med Child Neurol. 2010 Mar 29. [Epub ahead of print] No abstract available. PMID: 20370815 2010
2ACHE, COLQ
Cholinesterases regulation in the absence of ColQ.
Sigoillot SM, Bourgeois F, Legay C.
Chem Biol Interact hem Biol Interact. 2010 Feb 11. [Epub ahead of print]PMID: 20153305 2010
3COLQ
ColQ controls postsynaptic differentiation at the neuromuscular junction.
Sigoillot SM, Bourgeois F, Lambergeon M, Strochlic L, Legay C.
J Neurosci 30(1):13-23.PMID: 20053883 2010
4ACHE, COLQ
Dissociation of transcription, translation, and assembly of collagen-tailed acetylcholinesterase in skeletal muscle.
Ruiz CA, Rotundo RL.
J Biol Chem 284(32):21488-95. Epub 2009 Jun 9.PMID: 19509281 2009
5CMS1C, COLQ
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
Mihaylova V, Müller JS, Vilchez JJ, Salih MA, Kabiraj MM, D'Amico A, Bertini E, Wölfle J, Schreiner F, Kurlemann G, Rasic VM, Siskova D, Colomer J, Herczegfalvi A, Fabriciova K, Weschke B, Scola R, Hoellen F, Schara U, Abicht A, Lochmüller H.
Brain 131(Pt 3):747-59. Epub 2008 Jan 7.PMID: 18180250 2008
6ACHE, COLQ, PRIMA1
Acetylcholinesterase associates differently with its anchoring proteins ColQ and PRiMA.
Noureddine H, Carvalho S, Schmitt C, Massoulié J, Bon S.
J Biol Chem 283(30):20722-32. Epub 2008 May 29.PMID: 18511416 2008
7CMS1C, COLQ
Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.
Schreiner F, Hoppenz M, Klaeren R, Reimann J, Woelfle J.
Neuromuscul Disord 17(3):262-5. Epub 2007 Feb 14. 2007
8COLQ
Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers.
Ting AK, Siow NL, Kong LW, Tsim KW.
Chem Biol Interact 157-158:63-70. Epub 2005 Oct 27. 2005
9COLQ, CMS1C
Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.
Muller JS, Petrova S, Kiefer R, Stucka R, Konig C, Baumeister SK, Huebner A, Lochmuller H, Abicht A.
Neuropediatrics 35(3):183-9. 2004
10COLQ, CMS1c
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.
Ishigaki K, Nicolle D, Krejci E, Leroy JP, Koenig J, Fardeau M, Eymard B, Hantai D.
Neuromuscul Disord 13(3):236-44. 2003
11COLQ
Molecular modeling of the collagen-like tail of asymmetric acetylcholinesterase.
Deprez P, Inestrosa NC.
Protein Eng 13(1):27-34.PMID: 10679527 2000
12CMS1C, COLQ
Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?
Ohno K, et al.
Am J Hum Genet 65(3):635-44 1999
13CMS1C, COLQ
Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (type Ic).
Donger C, Krejci E, Serradell AP, Eymard B, Bon S, Nicole S, Chateau D, Gary F, Fardeau M, Massoulie J, Guicheney P.
Am J Hum Genet 63 : 967-975. 1998
14COLQ
The mammalian gene of acetylcholinesterase-associated collagen.
Krejci E, Thomine S, Boschetti N, Legay C, Sketelj J, Massoulie J.
J Biol Chem 272 : 22840-22847. 1997