[HTML][HTML] Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models

A Pugliese, SH Holland, C Rodolico… - Journal of …, 2023 - content.iospress.com
Presynaptic congenital myasthenic syndromes (CMS) are a group of genetic disorders
affecting the presynaptic side of the neuromuscular junctions (NMJ). They can result from a …

[HTML][HTML] Synergistic effect of combined walnut peptide and ginseng extracts on memory improvement in C57BL/6 Mice and Potential Mechanism Exploration

J Fu, W Song, X Song, L Fang, X Wang, Y Leng… - Foods, 2023 - mdpi.com
This work aimed to investigate whether there are synergistic effects between walnut peptide
(WNP) and ginseng extracts (GSE) treatments to ameliorate the memory impairment caused …

Influence of β2-adrenergic selective agonist formoterol on the motor unit of a mouse model of a congenital myasthenic syndrome with complete VAChT deletion

L Rossi, BI Mota, PAC Valadão… - …, 2024 - Elsevier
Abstract Congenital Myasthenic Syndromes (CMS) are a set of genetic diseases that affect
the neuromuscular transmission causing muscular weakness. The standard …

[HTML][HTML] Functional dissociation of behavioral effects from acetylcholine and glutamate released from cholinergic striatal interneurons

O Kljakic, H Janíčková, M Skirzewski… - The FASEB …, 2022 - ncbi.nlm.nih.gov
In the striatum, cholinergic interneurons (CINs) have the ability to release both acetylcholine
and glutamate, due to the expression of the vesicular acetylcholine transporter (VAChT) and …

[HTML][HTML] Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3

A Della Marina, A Arlt, U Schara-Schmidt, C Depienne… - Cells, 2021 - mdpi.com
Background: Presynaptic forms of congenital myasthenic syndromes (CMS) due to
pathogenic variants in SLC18A3 impairing the synthesis and recycling of acetylcholine …

[PDF][PDF] Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3. Cells 2021, 10, 3481

A Della Marina, A Arlt, U Schara-Schmidt, C Depienne… - 2021 - hal.science
Background: Presynaptic forms of congenital myasthenic syndromes (CMS) due to
pathogenic variants in SLC18A3 impairing the synthesis and recycling of acetylcholine …

The role of the Non-neuronal Cholinergic System in immune regulation

D Roy - 2022 - zone.biblio.laurentian.ca
Activation of nicotinic acetylcholine receptors (nAChRs) by agonists like acetylcholine (ACh)
can have anti-inflammatory properties via the regulation of cytokines. A recent novel class of …