Clinical and pathologic features of congenital myasthenic syndromes caused by 35 genes—a comprehensive review

K Ohno, B Ohkawara, XM Shen, D Selcen… - International journal of …, 2023 - mdpi.com
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders
characterized by impaired neuromuscular signal transmission due to germline pathogenic …

Recent advances in Cys-loop receptor structure and function

SM Sine, AG Engel - Nature, 2006 - nature.com
Throughout the nervous system, moment-to-moment communication relies on postsynaptic
receptors to detect neurotransmitters and change the membrane potential. For the Cys-loop …

Muscle and neuronal nicotinic acetylcholine receptors: structure, function and pathogenicity

D Kalamida, K Poulas, V Avramopoulou… - The FEBS …, 2007 - Wiley Online Library
Nicotinic acetylcholine receptors (nAChRs) are integral membrane proteins and prototypic
members of the ligand‐gated ion‐channel superfamily, which has precursors in the …

Desensitization of nicotinic ACh receptors: shaping cholinergic signaling

R Giniatullin, A Nistri, JL Yakel - Trends in neurosciences, 2005 - cell.com
Nicotinic ACh receptors (nAChRs) can undergo desensitization, a reversible reduction in
response during sustained agonist application. Although the mechanism of desensitization …

Structure and pharmacology of pentameric receptor channels: from bacteria to brain

PJ Corringer, F Poitevin, MS Prevost, L Sauguet… - Structure, 2012 - cell.com
Orthologs of the pentameric receptor channels that mediate fast synaptic transmission in the
central and peripheral nervous systems have been found in several bacterial species and in …

Allosteric receptors after 30 years

JP Changeux, SJ Edelstein - Neuron, 1998 - cell.com
France rather than the tertiary folding within each individual subunit. In other words, the
cooperative interactions The concept of allosteric proteins was initially proposed between …

End-plate acetylcholine receptor: structure, mechanism, pharmacology, and disease

SM Sine - Physiological reviews, 2012 - journals.physiology.org
The synapse is a localized neurohumoral contact between a neuron and an effector cell and
may be considered the quantum of fast intercellular communication. Analogously, the …

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

K Ohno, AG Engel, XM Shen, D Selcen… - The American Journal of …, 2002 - cell.com
Congenital myasthenic syndromes (CMSs) stem from genetic defects in endplate (EP)-
specific presynaptic, synaptic, and postsynaptic proteins. The postsynaptic CMSs identified …

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

V Mihaylova, JS Müller, JJ Vilchez, MA Salih… - Brain, 2008 - academic.oup.com
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous
inherited disorders characterized by impaired neuromuscular transmission. Mutations in the …

Desensitization of mouse nicotinic acetylcholine receptor channels: a two-gate mechanism

A Auerbach, G Akk - The Journal of general physiology, 1998 - rupress.org
The rate constants of acetylcholine receptor channels (AChR) desensitization and recovery
were estimated from the durations and frequencies of clusters of single-channel currents …