RT Journal Article
T1 CPLANE complex and ciliopathies
A1 Martín Salazar, Jesús Eduardo
A1 Valverde Pérez, Diana
K1 2409 Genética
K1 2407 Biología Celular
AB Primary cilia are non-motile organelles associated with the cell cycle, which can be found in most vertebrate cell types. Cilia formation occurs through a process called ciliogenesis, which involves several mechanisms including planar cell polarity (PCP) and the Hedgehog (Hh) signaling pathway. Some gene complexes, such as BBSome or CPLANE (ciliogenesis and planar polarity effector), have been linked to ciliogenesis. CPLANE complex is composed of INTU, FUZ and WDPCP, which bind to JBTS17 and RSG1 for cilia formation. Defects in these genes have been linked to a malfunction of intraflagellar transport and defects in the planar cell polarity, as well as defective activation of the Hedgehog signalling pathway. These faults lead to defective cilium formation, resulting in ciliopathies, including orofacial–digital syndrome (OFDS) and Bardet–Biedl syndrome (BBS). Considering the close relationship, between the CPLANE complex and cilium formation, it can be expected that defects in the genes that encode subunits of the CPLANE complex may be related to other ciliopathies.
PB Biomolecules
SN 2218273X
YR 2022
FD 2022-06-17
LK http://hdl.handle.net/11093/3641
UL http://hdl.handle.net/11093/3641
LA eng
NO Biomolecules, 12(6): 847 (2022)
NO Instituto de Salud Carlos III | Ref. PI15/00049
DS Investigo
RD 26-ene-2025