WebOct 1, 2024 · The defect of AGRN was one of the causes of CMS through influencing the development and maintenance of neuromuscular transmission. However, CMS reports about this gene mutation were rare. Here, we report a novel homozygous missense mutation (c.5302G>C) of AGRN in a Chinese CMS pedigree. WebFeb 20, 2024 · Indeed, mutations in AGRN gene have been reported to cause a recessive form of congenital myasthenic syndrome. 12 , 13 Thus, agrin is a key protein in the differentiation of neuromuscular junction and synaptic regeneration, which associates and regulates Na, K‐ATPase activity in the human brain.
AGRN Gene Mutation Leads to Congenital Myasthenia Syndromes: A ... - PubMed
WebAug 27, 2024 · Vesicle-associated membrane protein 2 (VAMP2) and Agrin (AGRN) are crucial proteins in neurotransmission. VAMP2 is a vesicular protein that facilitates the exocytosis of neurotransmitters. At the same time, AGRN plays a critical role in the maintenance and function of neuromuscular junctions. Mutations in the signaling … WebMay 9, 2003 · These genes include: postsynaptic proteins RPH3A, MACF1, and CHD8; synaptic proteins LAMA5, LAMB2, and UNC13A; as well as T OR1AIP1 (encoding the … how to check j1 visa status
AGRN Gene - GeneCards AGRIN Protein AGRIN …
WebFeb 20, 2024 · Indeed, mutations in AGRN gene have been reported to cause a recessive form of congenital myasthenic syndrome. 12 , 13 Thus, agrin is a key protein in the … WebAGRN is listed in the World's largest and most authoritative dictionary database of abbreviations and acronyms AGRN - What does AGRN stand for? The Free Dictionary WebAug 27, 2024 · Unfolding of Novel Independent Missense Mutations in VAMP2 and AGRN and Their Collective Role in Global Developmental Delay: A Case Report Authors Negar Heidarpour 1 , Adityabikram Singh 2 , Johnna M Caputo 1 , Raquel Barbieri 1 , Vijay S Pampana 3 , Vasudeva G Kamath 1 , Gurjinder Kaur 1 Affiliations how to check iwatch battery health