Results 131 to 140 of about 17,107 (226)

Characterization of the disease-causing mechanism of KIF3B mutations from ciliopathy patients

Frontiers in Molecular Biosciences
The heterodimeric kinesin-2 motor (KIF3A/KIF3B with accessory protein KAP3) drives intraflagellar transport, essential for ciliogenesis and ciliary function. Three point mutations in the KIF3B subunit have recently been linked to disease in humans (E250Q
Jessica M. Adams, Caleb Sawe, Skye Rogers, Jordyn Reid, Ronith Dasari, Martin F. Engelke   +5 more
doaj   +1 more source

Editorial: Advances in the research of diabetic nephropathy, volume II

Frontiers in Endocrinology, 2023
Katsumi Iizuka, Daisuke Yabe, Daisuke Yabe, Daisuke Yabe, Daisuke Yabe, Mohamed Abu-Farha, Jehad Abubaker, Fahd Al-Mulla   +7 more
doaj   +1 more source

Primary cilia and actin regulatory pathways in renal ciliopathies

Frontiers in Nephrology
Ciliopathies are a group of rare genetic disorders caused by defects to the structure or function of the primary cilium. They often affect multiple organs, leading to brain malformations, congenital heart defects, and anomalies of the retina or skeletal ...
Rita Kalot, Rita Kalot, Zachary Sentell, Thomas M. Kitzler, Thomas M. Kitzler, Elena Torban, Elena Torban   +6 more
doaj   +1 more source

KIF3A tail domain phosphorylation is not required for ciliogenesis in mouse embryonic fibroblasts

iScience
Summary: Primary cilia are essential signaling organelles that protrude from most cells in the body. Heterodimeric kinesin-2 (KIF3A/KIF3B/KAP3) powers several intracellular transport processes, including intraflagellar transport (IFT), essential for ...
Ayoola S. Fasawe, Jessica M. Adams, Martin F. Engelke   +2 more
doaj   +1 more source

Editorial: The Cytoskeleton and Cellular Compartmentation: Cilia as Specialized Cellular Domains

Frontiers in Cell and Developmental Biology, 2021
Francesc R. Garcia-Gonzalo, Francesc R. Garcia-Gonzalo, Francesc R. Garcia-Gonzalo, Francesc R. Garcia-Gonzalo, Helena Soares, Helena Soares, Susana S. Lopes, Takanari Inoue, Takanari Inoue   +8 more
doaj   +1 more source

Myristoylated Neuronal Calcium Sensor-1 captures the preciliary vesicle at distal appendages

eLife
The primary cilium is a microtubule-based organelle that cycles through assembly and disassembly. In many cell types, formation of the cilium is initiated by recruitment of preciliary vesicles to the distal appendage of the mother centriole. However, the
Tomoharu Kanie, Roy Ng, Keene L Abbott, Niaj Mohammad Tanvir, Esben Lorentzen, Olaf Pongs, Peter K Jackson   +6 more
doaj   +1 more source

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups [PDF]

, 2016
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related gene CEP290, which causes missplicing and premature termination, but ...
Carr, A-JF, Cheetham, ME, Coffey, PJ, da Cruz, L, Gallo, J-M, Hardcastle, AJ, Hull, S, Jovanovic, K, Kanuga, N, Lane, A, Moore, AT, Munro, PM, Muthiah, MN, Parfitt, DA, Ramsden, CM, Schwarz, N   +15 more
core  

Editorial: Signaling by primary cilia in development and disease

Frontiers in Cell and Developmental Biology, 2023
Sung-Eun Kim, Inna Nechipurenko, Søren Tvorup Christensen   +2 more
doaj   +1 more source

Disruption of primary ciliary prostaglandin E₂ signaling by transforming growth factor-β1 impairs endometrial receptivity. [PDF]

J Biomed Sci
Hou HT, Li WN, Lin TC, Lin CW, Pan PH, Lee CJ, Chen YC, Chen PF, Wang CY, Wu MH, Tsai SJ.   +10 more
europepmc   +1 more source

Catalytic activity of KMT5B promotes ciliogenesis without affecting global chromatin accessibility. [PDF]

Life Sci Alliance
Tait J, Marthen C, Hoelscher B, Straub T, Hsam O, Rupp RA.   +5 more
europepmc   +1 more source