Results 111 to 120 of about 34,354 (355)

Development and disease of the photoreceptor cilium [PDF]

Clinical Genetics, 2009
Primary cilia are microtubule‐rich hair‐like extensions protruding from the surface of most post‐mitotic cells. They act as sensory organelles that help interpret various environmental cues. Mutations in genes encoding proteins involved in ciliogenesis or protein transport to the primary cilia lead to a wide variety of diseases commonly referred to as ...
Ramamurthy, V., Cayouette, M.
openaire   +4 more sources

Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications

Advanced Science, EarlyView.
HDAC6 regulates primary cilia, crucial for cellular signalling and environmental responses. Dysregulation of HDAC6 contributes to ciliopathies, affecting multiple organs. This review examines HDAC6's role in ciliogenesis, its interaction with signaling molecules, and its potential as a therapeutic target.
Zhiyi Wang, Xiaofan Zhu, Zhenzhou Huang, Kaidi Ren, Jie Ran, Yang Yang   +5 more
wiley   +1 more source

De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

Human Mutation, Volume 43, Issue 12, Page 1844-1851, December 2022., 2022
Abstract TATA‐binding protein associated factor 4 (TAF4) is a subunit of the Transcription Factor IID (TFIID) complex, a central player in transcription initiation. Other members of this multimeric complex have been implicated previously as monogenic disease genes in human developmental disorders.
Beau D. E. Janssen, Marie‐Jose H. van den Boogaard, Klaske Lichtenbelt, Eleanor G. Seaby, Karen Stals, Sian Ellard, Ruth Newbury‐Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Õunap, Helen V. Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J. Holwerda, Koen van Gassen, Richard H. van Jaarsveld   +20 more
wiley   +1 more source

Asymmetric Rotational Stroke in Mouse Node Cilia during Left-Right Determination [PDF]

, 2012
Clockwise rotational movement of isolated single cilia in mice embryo was investigated in vivo. The movement generates leftward fluid flow in the node cavity and plays an important role in left-right determination. The leftward unidirectional flow results from tilting of the rotational axis of the cilium to posterior side.
arxiv   +1 more source

PDE6δ-mediated sorting of INPP5E into the cilium is determined by cargo-carrier affinity [PDF]

, 2016
The phosphodiesterase 6 delta subunit (PDE6δ) shuttles several farnesylated cargos between membranes. The cargo sorting mechanism between cilia and other compartments is not understood.
Fansa, Eyad Kalawy, Ismail, Shehab, Kösling, Stefanie Kristine, Wittinghofer, Alfred, Zent, Eldar   +4 more
core   +1 more source

HDAC6 and USP9X Control Glutamine Metabolism by Stabilizing GS to Promote Glioblastoma Tumorigenesis

Advanced Science, EarlyView.
Glioblastoma (GBM) growth relies on glutamine synthetase (GS), which is stabilized by histone deacetylase 6 (HDAC6) and deubiquitinated by ubiquitin‐specific peptidase 9, X‐linked (USP9X). HDAC6 promotes GS deacetylation, while USP9X removes its K48‐linked polyubiquitination, enhancing GS stability.
Go Woon Kim, Minhae Cha, Hien Thi My Ong, Jung Yoo, Yu Hyun Jeon, Sang Wu Lee, Soo Yeon Oh, Min‐Jung Kang, Youngsoo Kim, So Hee Kwon   +9 more
wiley   +1 more source

AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders

Human Mutation, Volume 43, Issue 12, Page 1795-1807, December 2022., 2022
Abstract Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD) remains inconclusive in >50% of the cases. Research analysis of unsolved cases can identify novel candidate genes but is time‐consuming, subjective, and hard to compare between labs.
Johann Kaspar Lieberwirth, Benjamin Büttner, Chiara Klöckner, Konrad Platzer, Bernt Popp, Rami Abou Jamra   +5 more
wiley   +1 more source

Effect of curvature and normal forces on motor regulation of cilia [PDF]

arXiv, 2019
Cilia are ubiquitous organelles involves in eukaryotic motility. They are long, slender, and motile protrusions from the cell body. They undergo active regular oscillatory beating patterns that can propel cells, such as the algae Chlamydomonas, through fluids.
arxiv  

Linking specification to differentiation:From proneural genes to the regulation of ciliogenesis [PDF]

, 2011
Much of developmental biology is concerned with the processes by which cells become committed to particular fates in a regulated fashion, whereas cell biology addresses, among other things, the variety of differentiated forms and functions that cells can
Jarman, Andrew, Simpson, T Ian, Zur Lage, Petra I   +2 more
core   +2 more sources

Enteric neurons show a primary cilium [PDF]

Journal of Cellular and Molecular Medicine, 2012
AbstractThe primary cilium is a non‐motile cilium whose structure is 9+0. It is involved in co‐ordinating cellular signal transduction pathways, developmental processes and tissue homeostasis. Defects in the structure or function of the primary cilium underlie numerous human diseases, collectively termed ciliopathies.
Mario Soriano, Ma José Luesma, Tomás Castiella, José Manuel García-Verdugo, Irene Cantarero, C. Junquera   +5 more
openaire   +5 more sources