Ontology highlight
ABSTRACT:
SUBMITTER: Sternemalm J
PROVIDER: S-EPMC4524657 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Sternemalm Johan J Geimer Stefan S Frikstad Kari-Anne M KA Schink Kay O KO Stokke Trond T Patzke Sebastian S
PloS one 20150804 8
Deleterious mutations of the Centrosome/Spindle Pole associated Protein 1 gene, CSPP1, are causative for Joubert-syndrome and Joubert-related developmental disorders. These disorders are defined by a characteristic mal-development of the brain, but frequently involve renal and hepatic cyst formation. CSPP-L, the large protein isoform of CSPP1 localizes to microtubule ends of the mitotic mid-spindle and the ciliary axoneme, and is required for ciliogenesis. We here report the microtubule independ ...[more]