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Correct expression and localization of collagen XIII are crucial for the normal formation and function of the neuromuscular system

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dc.contributor.author Härönen H.
dc.contributor.author Zainul Z.
dc.contributor.author Naumenko N.
dc.contributor.author Sormunen R.
dc.contributor.author Miinalainen I.
dc.contributor.author Shakirzyanova A.
dc.contributor.author Santoleri S.
dc.contributor.author Kemppainen A.
dc.contributor.author Giniatullin R.
dc.contributor.author Pihlajaniemi T.
dc.contributor.author Heikkinen A.
dc.date.accessioned 2020-01-21T20:40:23Z
dc.date.available 2020-01-21T20:40:23Z
dc.date.issued 2019
dc.identifier.issn 0953-816X
dc.identifier.uri https://dspace.kpfu.ru/xmlui/handle/net/157573
dc.description.abstract © 2019 Federation of European Neuroscience Societies and John Wiley & Sons Ltd Transmembrane collagen XIII has been linked to maturation of the musculoskeletal system. Its absence in mice (Col13a1−/−) results in impaired neuromuscular junction (NMJ) differentiation and function, while transgenic overexpression (Col13a1oe) leads to abnormally high bone mass. Similarly, loss-of-function mutations in COL13A1 in humans produce muscle weakness, decreased motor synapse function and mild dysmorphic skeletal features. Here, analysis of the exogenous overexpression of collagen XIII in various muscles revealed highly increased transcript and protein levels, especially in the diaphragm. Unexpectedly, the main location of exogenous collagen XIII in the muscle was extrasynaptic, in fibroblast-like cells, while some motor synapses were devoid of collagen XIII, possibly due to a dominant negative effect. Concomitantly, phenotypical changes in the NMJs of the Col13a1oe mice partly resembled those previously observed in Col13a1−/− mice. Namely, the overall increase in collagen XIII expression in the muscle produced both pre- and postsynaptic abnormalities at the NMJ, especially in the diaphragm. We discovered delayed and compromised acetylcholine receptor (AChR) clustering, axonal neurofilament aggregation, patchy acetylcholine vesicle (AChV) accumulation, disrupted adhesion of the nerve and muscle, Schwann cell invagination and altered evoked synaptic function. Furthermore, the patterns of the nerve trunks and AChR clusters in the diaphragm were broader in the adult muscles, and already prenatally in the Col13a1oe mice, suggesting collagen XIII involvement in the development of the neuromuscular system. Overall, these results confirm the role of collagen XIII at the neuromuscular synapses and highlight the importance of its correct expression and localization for motor synapse formation and function.
dc.relation.ispartofseries European Journal of Neuroscience
dc.subject collagen XIII
dc.subject genetically modified mice
dc.subject neuromuscular junction
dc.subject overexpression
dc.subject skeletal muscle
dc.title Correct expression and localization of collagen XIII are crucial for the normal formation and function of the neuromuscular system
dc.type Article
dc.relation.ispartofseries-issue 11
dc.relation.ispartofseries-volume 49
dc.collection Публикации сотрудников КФУ
dc.relation.startpage 1491
dc.source.id SCOPUS0953816X-2019-49-11-SID85061281904


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  • Публикации сотрудников КФУ Scopus [24551]
    Коллекция содержит публикации сотрудников Казанского федерального (до 2010 года Казанского государственного) университета, проиндексированные в БД Scopus, начиная с 1970г.

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