Ontology highlight
ABSTRACT:
SUBMITTER: Molinari E
PROVIDER: S-EPMC6658666 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Molinari Elisa E Ramsbottom Simon A SA Srivastava Shalabh S Booth Philip P Alkanderi Sumaya S McLafferty Seamus M SM Devlin Laura A LA White Kathryn K Gunay-Aygun Meral M Miles Colin G CG Sayer John A JA
Scientific reports 20190725 1
Joubert syndrome (JBTS) is an incurable multisystem ciliopathy syndrome. The most commonly mutated gene in JBTS patients with a cerebello-retinal-renal phenotype is CEP290 (alias JBTS5). The encoded CEP290 protein localises to the proximal end of the primary cilium, in the transition zone, where it controls ciliary protein composition and signalling. We examined primary cilium structure and composition in fibroblast cells derived from homozygous and compound heterozygous JBTS5 patients with nons ...[more]