Results 251 to 260 of about 20,808 (274)

CEP290 and the Primary Cilium

2014
The protein CEP290 has recently emerged as a major player in the biology of the cilium and as a causative protein in a number of human syndromic diseases, most of which are associated with the devastating blinding disease Leber congenital amaurosis. (Coppieters et al., Hum Mutat 31, 2010, 1097-1108) CEP290 is known to be an important component of the ...
Theodore G, Drivas, Jean, Bennett
openaire   +2 more sources

The vertebrate primary cilium is a sensory organelle

Current Opinion in Cell Biology, 2003
The primary cilium is a generally non-motile cilium that occurs singly on most cells in the vertebrate body. The function of this organelle, which has been the subject of much speculation but little experimentation, has been unknown. Recent findings reveal that the primary cilium is an antenna displaying specific receptors and relaying signals from ...
Pazour, Gregory J., Witman, George B.
openaire   +3 more sources

Depletion of primary cilium in acral melanoma

Journal of Cutaneous Pathology, 2019
AbstractBackgroundA eukaryotic cell's primary cilium (PC) is critical for cell signaling, migration and homeostasis. Primary cilium dysfunction has been demonstrated in several malignancies, but whether primary cilia loss occurs in acral melanoma has remained unknown.
Nick R. Love, Ursula E. Lang, Christine Cheung, Jinah Kim   +3 more
openaire   +2 more sources

Routes and machinery of primary cilium biogenesis

Cellular and Molecular Life Sciences, 2017
Primary cilia are solitary, microtubule-based protrusions of the cell surface that play fundamental roles as photosensors, mechanosensors and biochemical sensors. Primary cilia dysfunction results in a long list of developmental and degenerative disorders that combine to give rise to a large spectrum of human diseases affecting almost any major body ...
Miguel Bernabé-Rubio, Miguel A. Alonso
openaire   +2 more sources

Vertebrate Smoothened functions at the primary cilium

Nature, 2005
The unanticipated involvement of several intraflagellar transport proteins in the mammalian Hedgehog (Hh) pathway has hinted at a functional connection between cilia and Hh signal transduction. Here we show that mammalian Smoothened (Smo), a seven-transmembrane protein essential for Hh signalling, is expressed on the primary cilium.
Kevin C, Corbit, Pia, Aanstad, Veena, Singla, Andrew R, Norman, Didier Y R, Stainier, Jeremy F, Reiter   +5 more
openaire   +2 more sources

Unmasking the ciliopathies: craniofacial defects and the primary cilium

WIREs Developmental Biology, 2015
Over the past decade, the primary cilium has emerged as a pivotal sensory organelle that acts as a major signaling hub for a number of developmental signaling pathways. In that time, a vast number of proteins involved in trafficking and signaling have been linked to ciliary assembly and/or function, demonstrating the importance of this organelle during
Cortes, Claudio R., Metzis, Vicki, Wicking, Carol   +2 more
openaire   +5 more sources

The autophagy protein ATG16L1 cooperates with IFT20 and INPP5E to regulate the turnover of phosphoinositides at the primary cilium

Cell Reports, 2021
Federica Roccío, Nicolas Dupont, Patrice Codogno   +2 more
exaly  

Functional aspects of primary cilium in signaling, assembly and microenvironment in cancer

Journal of Cellular Physiology, 2021
Bo Wang, Zheyong Liang, Peijun Liu
exaly  

The Primary Cilium

2021
openaire   +1 more source

EZH2-Mediated Primary Cilium Deconstruction Drives Metastatic Melanoma Formation

Cancer Cell, 2018
Daniel Zingg, Julien Debbache, Phil F Cheng   +2 more
exaly