Results 1 to 10 of about 9,240 (177)

The multifaceted role of EXOC6A in ciliogenesis [PDF]

eLife
Ciliogenesis is a highly ordered process that requires membrane trafficking, fusion, and maturation. In this study, we investigated EXOC6A, a component of the exocyst complex known for secretory vesicle trafficking and fusion, and found that it interacts
Te-Lin Lin, Chien-Ting Wu, Tang K Tang
doaj   +4 more sources

A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies. [PDF]

Traffic
Human EHD protein subcellular localization. ABSTRACT Eps15 homology domain‐containing proteins comprise a conserved family of membrane‐remodeling ATPases that regulate endocytic trafficking, membrane fission, receptor recycling, primary ciliogenesis and membrane dynamics across eukaryotes. Since the initial identification of EHD1 and its Caenorhabditis
Frisby D, Misri G, Naslavsky N, Caplan S.   +3 more
europepmc   +2 more sources

Phenotypic Expansion and Molecular Implications in Recessive FUZ -Related Ciliopathy. [PDF]

Clin Genet
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Ogawa Y, Kato S, Shiraga K, Kato M, Inuzuka R.   +4 more
europepmc   +2 more sources

BICD2 promotes ciliogenesis by facilitating CP110 removal from the mother centriole [PDF]

EMBO Reports
Cilia are hair-like organelles that protrude from the cell surface and play vital roles in embryonic development and tissue homeostasis. Removal of centriolar coiled-coil protein 110 (CP110) from the mother centriole is a critical step in ciliogenesis ...
Wenjun Kuang, Hao Jin, Shanshan Xie, Guangshuo Ou, Tianhua Zhou   +4 more
doaj   +2 more sources

Non-Overlapping Distributions and Functions of the VDAC Family in Ciliogenesis

Cells, 2015
Centrosomes are major microtubule-organizing centers of animal cells that consist of two centrioles. In mitotic cells, centrosomes are duplicated to serve as the poles of the mitotic spindle, while in quiescent cells, centrosomes move to the apical ...
Shubhra Majumder, Harold A Fisk
exaly   +3 more sources

Primary cilia-extracellular vesicle crosstalk in Alzheimer's disease: Emerging mechanisms and biomarker potential. [PDF]

Alzheimers Dement
Abstract Alzheimer's disease (AD) is a neurodegenerative condition marked by cognitive decline and synaptic issues. Recent studies show primary cilia (PCs), sensory organelles present on the surface of most mammalian cells, act as a critical regulators of brain homeostasis and signaling.
Guleria VS, Winston CN.
europepmc   +2 more sources

Ciliopathy-related B9 protein complex regulates ciliary axonemal microtubule posttranslational modifications and initiation of ciliogenesis [PDF]

The Journal of Clinical Investigation
Ciliary dysfunction results in multiorgan developmental diseases, collectively known as ciliopathies. The B9D1-B9D2-MKS1protein complex maintains the gatekeeper function at the ciliary transition zone (TZ).
Ruida He, Yan Li, Minjun Jin, Huike Jiao, Yue Shen, Qize Han, Xilang Pan, Suning Wang, Zaisheng Lin, Jingshi Li, Chao Lu, Dan Meng, Zongfu Cao, Qing Shang, Nan Lv, Kai Wan, Huafang Gao, Xu Ma, Haiyan Yin, Haishuang Chang, Liang Wang, Minna Luo, Junmin Pan, Chengtian Zhao, Muqing Cao   +24 more
doaj   +2 more sources

Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis

Nature Communications, 2019
Ciliogenesis is a complex process requiring hundreds of molecules, although few secreted proteins have been implicated. Here, the authors show that the secreted metalloproteases ADAMTS9 and ADAMTS20 intracellularly regulate ciliogenesis from unique ...
Timothy Cox, Suneel S Apte, Sumeda Nandadasa   +2 more
exaly   +2 more sources

Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies [PDF]

HGG Advances
Summary: The primary cilium is a small organelle that plays key roles in cellular signaling. Defects in primary cilia formation, morphology, and function cause a heterogeneous group of developmental syndromes termed ciliopathies. The inturned planar cell
Rebekah Rushforth, Kurt Reynolds, Steven I. Estes, Daniel K. Nolan, Mari Mori, Daniel C. Koboldt, Jesse M. Hunter, Rolf W. Stottmann   +7 more
doaj   +2 more sources

Roles for ELMOD2 and Rootletin in ciliogenesis [PDF]

Molecular Biology of the Cell, 2021
The ARF GAP ELMOD2, Rootletin, and ARL2 all act in a common pathway to suppress spurious ciliation upstream of CP110 and to maintain centrosome cohesion.
Turn, Rachel E., Linnert, Joshua, Gigante, Eduardo D., Wolfrum, Uwe, Caspary, Tamara, Kahn, Richard A.   +5 more
openaire   +3 more sources