Primary cilia as dynamic and diverse signalling hubs in development and disease

P Mill, ST Christensen, LB Pedersen - Nature Reviews Genetics, 2023 - nature.com
Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate
cell types, are essential for regulating signalling pathways during development and adult …

Seriously cilia: A tiny organelle illuminates evolution, disease, and intercellular communication

C Derderian, GI Canales, JF Reiter - Developmental cell, 2023 - cell.com
The borders between cell and developmental biology, which have always been permeable,
have largely dissolved. One manifestation is the blossoming of cilia biology, with cell and …

Axonemal structures reveal mechanoregulatory and disease mechanisms

T Walton, M Gui, S Velkova, MR Fassad, RA Hirst… - Nature, 2023 - nature.com
Motile cilia and flagella beat rhythmically on the surface of cells to power the flow of fluid and
to enable spermatozoa and unicellular eukaryotes to swim. In humans, defective ciliary …

[HTML][HTML] Functional unknomics: Systematic screening of conserved genes of unknown function

JJ Rocha, SA Jayaram, TJ Stevens, N Muschalik… - PLoS …, 2023 - journals.plos.org
The human genome encodes approximately 20,000 proteins, many still uncharacterised. It
has become clear that scientific research tends to focus on well-studied proteins, leading to …

De novo identification of mammalian ciliary motility proteins using cryo-EM

M Gui, H Farley, P Anujan, JR Anderson, DW Maxwell… - Cell, 2021 - cell.com
Dynein-decorated doublet microtubules (DMTs) are critical components of the oscillatory
molecular machine of cilia, the axoneme, and have luminal surfaces patterned periodically …

SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules

M Gui, JT Croft, D Zabeo, V Acharya… - Proceedings of the …, 2022 - National Acad Sciences
The cilium-centrosome complex contains triplet, doublet, and singlet microtubules. The
lumenal surfaces of each microtubule within this diverse array are decorated by microtubule …

Oviductal motile cilia are essential for oocyte pickup but dispensable for sperm and embryo transport

S Yuan, Z Wang, H Peng, SM Ward… - Proceedings of the …, 2021 - National Acad Sciences
Mammalian oviducts play an essential role in female fertility by picking up ovulated oocytes
and transporting and nurturing gametes (sperm/oocytes) and early embryos. However, the …

Integrative modeling reveals the molecular architecture of the intraflagellar transport A (IFT-A) complex

CL McCafferty, O Papoulas, MA Jordan… - Elife, 2022 - elifesciences.org
Intraflagellar transport (IFT) is a conserved process of cargo transport in cilia that is essential
for development and homeostasis in organisms ranging from algae to vertebrates. In …

Ataluren—promising therapeutic premature termination codon readthrough frontrunner

S Michorowska - Pharmaceuticals, 2021 - mdpi.com
Around 12% of hereditary disease-causing mutations are in-frame nonsense mutations. The
expression of genes containing nonsense mutations potentially leads to the production of …

An updated SYSCILIA gold standard (SCGSv2) of known ciliary genes, revealing the vast progress that has been made in the cilia research field

SSV Vasquez, J van Dam… - Molecular Biology of the …, 2021 - Am Soc Cell Biol
Cilia are microtubule-based organelles with important functions in motility and sensation.
They contribute to a broad spectrum of developmental disorders called ciliopathies and …