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 …

The neuromuscular junction in health and disease: molecular mechanisms governing synaptic formation and homeostasis

PM Rodríguez Cruz, J Cossins, D Beeson… - Frontiers in molecular …, 2020 - frontiersin.org
The neuromuscular junction (NMJ) is a highly specialized synapse between a motor neuron
nerve terminal and its muscle fiber that are responsible for converting electrical impulses …

[HTML][HTML] Regulation of nicotinic acetylcholine receptors by post-translational modifications

JF Chrestia, O Turani, NR Araujo, G Hernando… - Pharmacological …, 2023 - Elsevier
Nicotinic acetylcholine receptors (nAChRs) comprise a family of pentameric ligand-gated ion
channels widely distributed in the central and peripheric nervous system and in non …

Myasthenia gravis with antibodies against muscle specific kinase: an update on clinical features, pathophysiology and treatment

M Cao, I Koneczny, A Vincent - Frontiers in Molecular Neuroscience, 2020 - frontiersin.org
Muscle Specific Kinase myasthenia gravis (MuSK-MG) is an autoimmune disease that
impairs neuromuscular transmission leading to generalized muscle weakness. Compared to …

Neddylation stabilizes Nav1.1 to maintain interneuron excitability and prevent seizures in murine epilepsy models

W Chen, B Luo, N Gao, H Li, H Wang… - The Journal of …, 2021 - Am Soc Clin Investig
The excitability of interneurons requires Nav1. 1, the α subunit of the voltage-gated sodium
channel. Nav1. 1 deficiency and mutations reduce interneuron excitability, a major …

Post-synaptic specialization of the neuromuscular junction: junctional folds formation, function, and disorders

S Zou, BX Pan - Cell & Bioscience, 2022 - Springer
Post-synaptic specialization is critical to the neurotransmitter release and action potential
conduction. The neuromuscular junctions (NMJs) are the synapses between the motor …

Dissecting the extracellular complexity of neuromuscular junction organizers

SR Guarino, A Canciani, F Forneris - Frontiers in molecular …, 2020 - frontiersin.org
Synapse formation is a very elaborate process dependent upon accurate coordination of pre
and post-synaptic specialization, requiring multiple steps and a variety of receptors and …

Rapsyn as a signaling and scaffolding molecule in neuromuscular junction formation and maintenance

G Xing, WC Xiong, L Mei - Neuroscience Letters, 2020 - Elsevier
The acetylcholine receptor (AChR) is highly concentrated at the neuromuscular junction
(NMJ), ensuring efficient signal transmission from motoneurons to muscle fibers. This …

[HTML][HTML] From phosphorylation to phenotype–Recent key findings on kinase regulation, downstream signaling and disease surrounding the receptor tyrosine kinase …

J Prömer, C Barresi, R Herbst - Cellular Signalling, 2023 - Elsevier
Muscle-specific kinase (MuSK) is the key regulator of neuromuscular junction development.
MuSK acts via several distinct pathways and is responsible for pre-and postsynaptic …

The Association Between RAPSN Methylation in Peripheral Blood and Early Stage Lung Cancer Detected in Case–Control Cohort

R Qiao, F Di, J Wang, Y Wei, Y Zhang, T Xu… - Cancer management …, 2020 - Taylor & Francis
Background Early detection is essential to improve the survival and life quality of lung
cancer (LC) patients. Changes of peripheral blood DNA methylation could be associated …