1998
DOI: 10.1073/pnas.95.16.9654
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Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

Abstract: In skeletal muscle, acetylcholinesterase (AChE) exists in homomeric globular forms of type T catalytic subunits (ACHE T ) and heteromeric asymmetric forms composed of 1, 2, or 3 tetrameric ACHE T attached to a collagenic tail (ColQ). Asymmetric AChE is concentrated at the endplate (EP), where its collagenic tail anchors it into the basal lamina. The ACHE T gene has been cloned in humans; COLQ cDNA has been cloned in Torpedo and rodents but not in humans. In a disabling congenital myasthenic syndrome, EP AChE d… Show more

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Cited by 242 publications
(182 citation statements)
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“…[7][8] One, two or three globular subunits form the main structure of this synaptic enzyme, which needs to be anchored to the basal lamina for its proper function. The…”
Section: Synaptic Cms Acetylcholinesterase Deficiency (Ache)mentioning
confidence: 99%
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“…[7][8] One, two or three globular subunits form the main structure of this synaptic enzyme, which needs to be anchored to the basal lamina for its proper function. The…”
Section: Synaptic Cms Acetylcholinesterase Deficiency (Ache)mentioning
confidence: 99%
“…The kinetic mutations fall into two categories according to whether they induce slow or fast channel syndromes [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] .…”
Section: Defects In Acetylcholine Receptor Subunitsmentioning
confidence: 99%
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“…These are inherited disorders, caused by various genetic defects, and all but the slow-channel CMS by recessive inheritance. [1][2][3][4][5] To date, mutations in 10 different genes have been found to cause a CMS: CHAT, coding for the presynaptic choline acetyltransferase 6 ; COLQ, coding for the endplate acetylcholine esterase 7,8 ; CHRNA1, CHRNB1, CHRND, and CHRNE coding for four different AChR subunits 9,10 ; RAPSN, coding for the postsynaptic protein rapsyn 11 ; MUSK, coding for the muscle-specific kinase 12 ; DOK7, coding for the downstream of kinase 7 protein 13 ; and SCN4A, coding for the postsynaptic voltage-gated sodium channel Na v 1.4. 14…”
Section: Congenital Myasthenic Syndromesmentioning
confidence: 99%
“…Perlecan is a multifunctional heparin sulfate proteoglycan that is also concentrated on the synaptic basal lamina, and the carboxyl terminal domain of ColQ is necessary and sufficient for its attachment. Several mutations in the C-terminal domain of COLQ indicate that this region of the collagenic tail is essential for AChE localization at the synapse [14][15][16]. To determine whether the entire collagenic tail was necessary for attachment, or only the Cterminal domain, we generated several fusion proteins consisting of GFP fused to varying lengths of COLQ.…”
Section: Localizing Ache To the Neuromuscular Junctionmentioning
confidence: 99%