Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster

A large number of different pathological L1CAM mutations have been identified that result in a broad spectrum of neurological and non-neurological phenotypes. While many of these mutations have been characterized for their effects on homophilic and heterophilic interactions, as well as expression le...

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Veröffentlicht in:	PloS one 2013-10, Vol.8 (10), p.e76974-e76974
Hauptverfasser:	Kudumala, Sirisha, Freund, Julie, Hortsch, Michael, Godenschwege, Tanja A
Format:	Artikel
Sprache:	eng
Schlagworte:	Analysis Animals Ankyrins Axon guidance Axonogenesis Axons - metabolism Binding sites Cell adhesion & migration Defects Drosophila Drosophila melanogaster - metabolism Electrophysiological Phenomena Ezrin Gene expression Genetic aspects Genetic Complementation Test Humans Immunoglobulins Immunohistochemistry In vivo methods and tests Insects Missense mutation Moesin Mutant Proteins - metabolism Mutants Mutation Mutation, Missense - genetics Nervous system Nervous System - metabolism Neural Cell Adhesion Molecule L1 - genetics Phenotype Proteins Radixin Signaling Synapses Synapses - metabolism Synaptogenesis
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