ciliopathies

Summary

Summary: Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Obesity, SKELETAL DYSPLASIA  and POLYDACTYLY are not examples of malformation that involve either the liver, eye or kidneys.

Top Publications

  1. Kanie T, Abbott K, Mooney N, Plowey E, Demeter J, JACKSON P. The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base. Dev Cell. 2017;42:22-36.e12 pubmed publisher
    ..Activated RABL2B then captures and releases its single effector, the intraflagellar transport B holocomplex, from the large pool of pre-docked IFT-B complexes, and thus initiates ciliary entry of IFT. ..
  2. Reiter J, Leroux M. Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol. 2017;18:533-547 pubmed publisher
    ..The dysfunction of cilia causes diseases known as ciliopathies. The number of reported ciliopathies (currently 35) is increasing, as is the number of established (187) and ..
  3. Vetter M, Wang J, Lorentzen E, Deretic D. Novel topography of the Rab11-effector interaction network within a ciliary membrane targeting complex. Small Gtpases. 2015;6:165-73 pubmed publisher
    ..of the novel Rab11-FIP3-Rabin8 dual effector complex and its implications for the targeting of sensory receptors to primary cilia, dysfunction of which causes cilia defects underlying human diseases and disorders know as ciliopathies.
  4. Van De Weghe J, Rusterholz T, Latour B, Grout M, Aldinger K, Shaheen R, et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 2017;101:23-36 pubmed publisher
    ..All of the gene products localize in and around the primary cilium, making JS a canonical ciliopathy. Ciliopathies are unified by their overlapping clinical features and underlying mechanisms involving ciliary dysfunction...
  5. Tkemaladze T, Melikishvili G, Kherkheulidze V, Melikishvili A, Davitaia T. EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT). Georgian Med News. 2017;:100-103 pubmed
    Human ciliopathies are a class of multi-organ genetic disorders caused by defects of proteins expressed at the primary cilium, an organelle present on the cell surface of almost all cell types...
  6. Castro Sánchez S, Álvarez Satta M, Tohamy M, Beltran S, Derdak S, Valverde D. Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. PLoS ONE. 2017;12:e0183081 pubmed publisher
    b>Ciliopathies are a group of rare disorders characterized by a high genetic and phenotypic variability, which complicates their molecular diagnosis...
  7. Shi X, Garcia G, Van De Weghe J, McGorty R, Pazour G, Doherty D, et al. Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome. Nat Cell Biol. 2017;19:1178-1188 pubmed publisher
    b>Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the transition zone, a domain near the base of the cilium that controls the protein ..
  8. Kasahara K, Aoki H, Kiyono T, Wang S, Kagiwada H, Yuge M, et al. EGF receptor kinase suppresses ciliogenesis through activation of USP8 deubiquitinase. Nat Commun. 2018;9:758 pubmed publisher
    ..We further show that usp8 knockout zebrafish develops ciliopathy-related phenotypes including cystic kidney, suggesting that USP8 is a regulator of ciliogenesis in vertebrates. ..