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Reduced muscle strength in ether lipid-deficient mice is accompanied by altered development and function of the neuromuscular junction

Dorninger, Fabian; Herbst, Ruth; Kravic, Bojana; Camurdanoglu, Bahar Z.; Macinkovic, Igor; Zeitler, Gerhard; Forss-Petter, Sonja; Strack, Siegfried 1; Khan, Muzamil Majid 1; Waterham, Hans R.; Rudolf, Rüdiger 1; Hashemolhosseini, Said; Berger, Johannes
1 Institut für Toxikologie und Genetik (ITG), Karlsruher Institut für Technologie (KIT)


Inherited deficiency in ether lipids, a subgroup of phospholipids whose biosynthesis needs peroxisomes, causes the fatal human disorder rhizomelic chondrodysplasia punctata. The exact roles of ether lipids in the mammalian organism and, therefore, the molecular mechanisms underlying the disease are still largely enigmatic. Here, we used glyceronephosphate O-acyltransferase knockout (Gnpat KO) mice to study the consequences of complete inactivation of ether lipid biosynthesis and documented substantial deficits in motor performance and muscle strength of these mice. We hypothesized that, probably in addition to previously described cerebellar abnormalities and myelination defects in the peripheral nervous system, an impairment of neuromuscular transmission contributes to the compromised motor abilities. Structurally, a morphologic examination of the neuromuscular junction (NMJ) in diaphragm muscle at different developmental stages revealed aberrant axonal branching and a strongly increased area of nerve innervation in Gnpat KO mice. Post-synaptically, acetylcholine receptor (AChR) clusters colocalized with nerve terminals within a widened endplate zone. ... mehr

Volltext §
DOI: 10.5445/IR/1000075764
DOI: 10.1111/jnc.14082
Zitationen: 25
Web of Science
Zitationen: 24
Zitationen: 25
Cover der Publikation
Zugehörige Institution(en) am KIT Institut für Toxikologie und Genetik (ITG)
Publikationstyp Zeitschriftenaufsatz
Publikationsmonat/-jahr 12.2017
Sprache Englisch
Identifikator ISSN: 0022-3042, 1471-4159
KITopen-ID: 1000075764
HGF-Programm 47.01.01 (POF III, LK 01) Biol.Netzwerke u.Synth.Regulat. ITG+ITC
Erschienen in Journal of neurochemistry
Verlag John Wiley and Sons
Band 143
Heft 5
Seiten 569-583
Vorab online veröffentlicht am 25.09.2017
Nachgewiesen in Scopus
Web of Science
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