| 1 | COLQ, LRP4, MUSK
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| The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction
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| Uyen Dao TM, Barbeau S, Messéant J, Della-Gaspera B, Bouceba T, Semprez F, Legay C, Dobbertin A.
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| J Biol Chem. Aug;299(8):104962. doi: 10.1016/j.jbc.2023.104962. Epub 2023 Jun 23. 2023
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| 2 | CMS1C, COLQ
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| Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene.
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| Luo X, Wang C, Lin L, Yuan F, Wang S, Wang Y, Wang A, Wang C, Wu S, Lan X, Xu Q, Yin R, Cheng H, Zhang Y, Xi J, Zhang J, Sun X, Yan J, Zeng F, Chen Y.
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| Front Pediatr. Nov 29;9:679342. doi: 10.3389/fped.2021.679342. eCollection 2021. 2021
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| 3 | CMS1C, COLQ
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| The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein
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| Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D, Pantaleo A, Iapicca P, Lastella P, Capozza M, Schettini F, Bukvic N, Bagnulo R, Resta N.
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| Genes (Basel) 2020 Dec 18;11(12):1519. doi: 10.3390/genes11121519 2020
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| 4 | COLQ
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| Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency.
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| Sigoillot SM, Bourgeois F, Karmouch J, Molgó J, Dobbertin A, Chevalier C, Houlgatte R, Léger J, Legay C.
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| FASEB J. Jun;30(6):2382-99. doi: 10.1096/fj.201500162. Epub 2016 Mar 18. 2016
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| 5 | COLQ, HNRNPH1, SRSF1
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| SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome
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| Rahman MA, Azuma Y, Nasrin F, Takeda J, Nazim M, Bin Ahsan K, Masuda A, Engel AG, Ohno K.
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| Sci Rep. Aug 18;5:13208. doi: 10.1038/srep13208 2015
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| 6 | ACHE, COLQ
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| COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.
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| Arredondo J, Lara M, Ng F, Gochez DA, Lee DC, Logia SP, Nguyen J, Maselli RA.
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| Hum Genet. May;133(5):599-616. doi: 10.1007/s00439-013-1391-3. Epub 2013 Nov 27. 2014
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| 7 | ACHE, COLQ, MUSK
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| Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.
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| Nakata T, Ito M, Azuma Y, Otsuka K, Noguchi Y, Komaki H, Okumura A, Shiraishi K, Masuda A, Natsume J, Kojima S, Ohno K.
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| Hum Mutat. Jul;34(7):997-1004. doi: 10.1002/humu.22325. Epub 2013 Apr 19. 2013
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| 8 | CMS1C, COLQ
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| Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations.
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| Yeung WL, Lam CW, Ng PC.
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| Dev Med Child Neurol ev Med Child Neurol. 2010 Mar 29. [Epub ahead of print] No abstract available. PMID: 20370815 2010
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| 9 | ACHE, COLQ
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| Cholinesterases regulation in the absence of ColQ.
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| Sigoillot SM, Bourgeois F, Legay C.
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| Chem Biol Interact hem Biol Interact. 2010 Feb 11. [Epub ahead of print]PMID: 20153305 2010
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| 10 | COLQ
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| ColQ controls postsynaptic differentiation at the neuromuscular junction.
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| Sigoillot SM, Bourgeois F, Lambergeon M, Strochlic L, Legay C.
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| J Neurosci 30(1):13-23.PMID: 20053883 2010
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| 11 | ACHE, COLQ
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| Dissociation of transcription, translation, and assembly of collagen-tailed acetylcholinesterase in skeletal muscle.
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| Ruiz CA, Rotundo RL.
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| J Biol Chem 284(32):21488-95. Epub 2009 Jun 9.PMID: 19509281 2009
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| 12 | CMS1C, COLQ
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| Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes.
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| 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.
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| Brain 131(Pt 3):747-59. Epub 2008 Jan 7.PMID: 18180250 2008
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| 13 | ACHE, COLQ, PRIMA1
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| Acetylcholinesterase associates differently with its anchoring proteins ColQ and PRiMA.
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| Noureddine H, Carvalho S, Schmitt C, Massoulié J, Bon S.
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| J Biol Chem 283(30):20722-32. Epub 2008 May 29.PMID: 18511416 2008
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| 14 | CMS1C, COLQ
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| Novel COLQ mutation 950delC in synaptic congenital myasthenic syndrome and symptomatic heterozygous relatives.
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| Schreiner F, Hoppenz M, Klaeren R, Reimann J, Woelfle J.
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| Neuromuscul Disord 17(3):262-5. Epub 2007 Feb 14.
2007
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| 15 | COLQ
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| Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers.
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| Ting AK, Siow NL, Kong LW, Tsim KW.
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| Chem Biol Interact 157-158:63-70. Epub 2005 Oct 27. 2005
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| 16 | COLQ, CMS1C
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| Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.
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| Muller JS, Petrova S, Kiefer R, Stucka R, Konig C, Baumeister SK, Huebner A, Lochmuller H, Abicht A.
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| Neuropediatrics 35(3):183-9. 2004
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| 17 | COLQ, CMS1c
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| Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.
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| Ishigaki K, Nicolle D, Krejci E, Leroy JP, Koenig J, Fardeau M, Eymard B, Hantai D.
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| Neuromuscul Disord 13(3):236-44. 2003
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| 18 | COLQ
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| Molecular modeling of the collagen-like tail of asymmetric acetylcholinesterase.
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| Deprez P, Inestrosa NC.
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| Protein Eng 13(1):27-34.PMID: 10679527 2000
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| 19 | CMS1C, COLQ
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| 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?
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| Ohno K, et al.
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| Am J Hum Genet 65(3):635-44 1999
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| 20 | CMS1C, COLQ
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| Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (type Ic).
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| Donger C, Krejci E, Serradell AP, Eymard B, Bon S, Nicole S, Chateau D, Gary F, Fardeau M, Massoulie J, Guicheney P.
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| Am J Hum Genet 63 : 967-975. 1998
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| 21 | COLQ
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| The mammalian gene of acetylcholinesterase-associated collagen.
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| Krejci E, Thomine S, Boschetti N, Legay C, Sketelj J, Massoulie J.
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| J Biol Chem 272 : 22840-22847. 1997
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