Mutations in the C-Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ-MuSK Interaction

Abstract excerpt

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). Mutations in COLQ cause endplate AChE deficiency. We report three patients with endplate AChE deficiency with five recessive COLQ mutations. Sedimentation profiles showed that p.Val322Asp and p.Arg227X, but...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cholinesterase and Neurodegenerative Diseases
• Share to Computational Drug Discovery Methods
• Share to Pesticide Exposure and Toxicity