Ontology highlight
ABSTRACT:
SUBMITTER: Wang X
PROVIDER: S-EPMC2464677 | biostudies-literature | 2007 Feb
REPOSITORIES: biostudies-literature
Wang Xinnan X Shaw W Robert WR Tsang Hilda T H HT Reid Evan E O'Kane Cahir J CJ
Nature neuroscience 20070114 2
To understand the functions of NIPA1, mutated in the neurodegenerative disease hereditary spastic paraplegia, and of ichthyin, mutated in autosomal recessive congenital ichthyosis, we have studied their Drosophila melanogaster ortholog, spichthyin (Spict). Spict is found on early endosomes. Loss of Spict leads to upregulation of bone morphogenetic protein (BMP) signaling and expansion of the neuromuscular junction. BMP signaling is also necessary for a normal microtubule cytoskeleton and axonal ...[more]