Near-complete adaptation of the PRiMA knockout to the lack of central acetylcholinesterase.
Paris, France. In J Neurochem, Sep 2012
Since PRiMA-KO mice and AChE-deficient mice have similar low AChE concentrations in the brain but differ in the AChE content of the peripheral nervous system, these results suggest that peripheral nervous system AChE is a major target of AChE inhibitors, and that its absence in AChE- deficient mice is the main cause of the slow development and vulnerability of these mice.
Recurrent COLQ mutation in congenital myasthenic syndrome.
Ankara, Turkey. In Pediatr Neurol, Apr 2012
Mutations in the COLQ gene result in acetylcholinesterase deficiency and cause a rare, autosomal recessive synaptic form of congenital myasthenic syndrome, with variable age of onset and clinical severity.
Congenital myasthenic syndrome: a brief review.
Curitiba, Brazil. In Pediatr Neurol, Mar 2012
Therefore, genetic testing may be necessary to identify specific mutations in CHAT, COLQ, LAMB2, CHRNA, CHRNB, CHRND, CHRNE, CHRNG, RAPSN, DOK7, MUSK, AGRN, SCN4A, GFPT1, or PLEC1 genes.
[Congenital myasthenic syndromes].
Nagoya, Japan. In Rinsho Shinkeigaku, 2011
Third, collagen Q (ColQ) anchors acetylcholinesterase (AChE) to the synaptic basal lamina and mutations in COLQ lead to endplate AChE deficiency.
Role of extracellular matrix proteins and their receptors in the development of the vertebrate neuromuscular junction.
Columbus, United States. In Dev Neurobiol, 2011
Biochemical, genetic, and microscopy studies have confirmed that agrin, laminin (221, 421, and 521), collagen IV (α3-α6), collagen XIII, perlecan, and the ColQ-bound form of acetylcholinesterase are all synaptic ECM proteins with important roles in neuromuscular development.
Cholinesterases regulation in the absence of ColQ.
Paris, France. In Chem Biol Interact, 2010
AChE, BChE and PRiMA mRNA level modifications found in the absence of ColQ cannot compensate for the physiological defects observed at the ColQ-deficient neuromuscular junction.
What have we learned from the congenital myasthenic syndromes.
Rochester, United States. In J Mol Neurosci, 2010
For example, electrophysiologic studies in patients suffering from sudden episodes of apnea pointed to a defect in acetylcholine resynthesis and CHAT as the candidate gene (Ohno et al., Proc Natl Acad Sci USA 98:2017-2022, 2001); refractoriness to anticholinesterase medications and partial or complete absence of acetylcholinesterase (AChE) from the endplates (EPs) has pointed to one of the two genes (COLQ and ACHE ( T )) encoding AChE, though mutations were observed only in COLQ.