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Items: 1 to 20 of 107

1.
2.

The spectrum of mutations causing end-plate acetylcholinesterase deficiency.

Ohno K, Engel AG, Brengman JM, Shen XM, Heidenreich F, Vincent A, Milone M, Tan E, Demirci M, Walsh P, Nakano S, Akiguchi I.

Ann Neurol. 2000 Feb;47(2):162-70. Erratum in: Ann Neurol 2000 Apr;47(4):554.

PMID:
10665486
3.

Three novel COLQ mutations and variation of phenotypic expressivity due to G240X.

Shapira YA, Sadeh ME, Bergtraum MP, Tsujino A, Ohno K, Shen XM, Brengman J, Edwardson S, Matoth I, Engel AG.

Neurology. 2002 Feb 26;58(4):603-9.

PMID:
11865139
4.

The mammalian gene of acetylcholinesterase-associated collagen.

Krejci E, Thomine S, Boschetti N, Legay C, Sketelj J, Massoulié J.

J Biol Chem. 1997 Sep 5;272(36):22840-7.

6.

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

Arredondo J, Lara M, Ng F, Gochez DA, Lee DC, Logia SP, Nguyen J, Maselli RA.

Hum Genet. 2014 May;133(5):599-616. doi: 10.1007/s00439-013-1391-3. Epub 2013 Nov 27.

7.

C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse.

Kimbell LM, Ohno K, Engel AG, Rotundo RL.

J Biol Chem. 2004 Mar 19;279(12):10997-1005. Epub 2003 Dec 31.

8.

Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction.

Nakata T, Ito M, Azuma Y, Otsuka K, Noguchi Y, Komaki H, Okumura A, Shiraishi K, Masuda A, Natsume J, Kojima S, Ohno K.

Hum Mutat. 2013 Jul;34(7):997-1004. doi: 10.1002/humu.22325. Epub 2013 Apr 19.

PMID:
23553736
9.

Molecular architecture of acetylcholinesterase collagen-tailed forms; construction of a glycolipid-tailed tetramer.

Duval N, Krejci E, Grassi J, Coussen F, Massoulié J, Bon S.

EMBO J. 1992 Sep;11(9):3255-61.

10.

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, Hantaï D.

Neuromuscul Disord. 2003 Mar;13(3):236-44.

PMID:
12609505
11.

Transcriptional control of different acetylcholinesterase subunits in formation and maintenance of vertebrate neuromuscular junctions.

Tsim KW, Xie HQ, Ting AK, Siow NL, Ling KK, Kong LW.

J Mol Neurosci. 2006;30(1-2):189-92.

PMID:
17192673
12.

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, Massoulié J, Guicheney P.

Am J Hum Genet. 1998 Oct;63(4):967-75.

13.

Primary structure of a collagenic tail peptide of Torpedo acetylcholinesterase: co-expression with catalytic subunit induces the production of collagen-tailed forms in transfected cells.

Krejci E, Coussen F, Duval N, Chatel JM, Legay C, Puype M, Vandekerckhove J, Cartaud J, Bon S, Massoulié J.

EMBO J. 1991 May;10(5):1285-93.

14.
15.

Congenital endplate acetylcholinesterase deficiency.

Hutchinson DO, Walls TJ, Nakano S, Camp S, Taylor P, Harper CM, Groover RV, Peterson HA, Jamieson DG, Engel AG.

Brain. 1993 Jun;116 ( Pt 3):633-53.

PMID:
8390325
16.

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. 2008 Mar;131(Pt 3):747-59. doi: 10.1093/brain/awm325. Epub 2008 Jan 7.

PMID:
18180250
17.

Trimerization domain of the collagen tail of acetylcholinesterase.

Bon S, Ayon A, Leroy J, Massoulié J.

Neurochem Res. 2003 Apr;28(3-4):523-35.

PMID:
12675141
18.
19.

Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.

Müller JS, Petrova S, Kiefer R, Stucka R, König C, Baumeister SK, Huebner A, Lochmüller H, Abicht A.

Neuropediatrics. 2004 Jun;35(3):183-9.

PMID:
15248101
20.

Viral vector-mediated [corrected] expression of human collagen Q in cultured cells.

Ito M, Masuda A, Jinno S, Katagiri T, Krejci E, Ohno K.

Chem Biol Interact. 2008 Sep 25;175(1-3):346-8. doi: 10.1016/j.cbi.2008.02.003. Epub 2008 Feb 14. Erratum in: Chem Biol Interact. 2009 Jan 15;177(1):81.

PMID:
18374322

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