Nature Search

Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis

How Meckel-Gruber syndrome protein TMEM67 functions in ciliogenesis and Wnt signaling simultaneously is unknown. Here the authors show that TMEM67 is proteolytically cleaved by the matrix metalloproteinase ADAMTS9 generating two functional isoforms.

Manu Ahmed
Sydney Fischer
Sumeda Nandadasa
ResearchOpen Access28 May 2025
Nature Communications

Volume: 16, P: 1-20
Functional coordination of intraflagellar transport motors

Guangshuo Ou
Oliver E. Blacque
Jonathan M. Scholey
Research28 Jul 2005
Nature

Volume: 436, P: 583-587
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

Yanli Fan
Muneer A Esmail
Michel R Leroux
Research15 Aug 2004
Nature Genetics

Volume: 36, P: 989-993
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

Stephen J. Ansley
Jose L. Badano
Nicholas Katsanis
Research21 Sept 2003
Nature

Volume: 425, P: 628-633
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

Motile and non-motile cilia have distinct functions and protein complexes associated with them. Here, the authors show the conserved protein CFAP20 is important for both motile and non-motile cilia and is distinct from other ciliopathy-associated domains or macromolecular complexes.

Paul W. Chrystal
Nils J. Lambacher
Michel R. Leroux
ResearchOpen Access03 Nov 2022
Nature Communications

Volume: 13, P: 1-22
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Mutations in proteins that localize to primary cilia cause devastating diseases, yet the primary cilium is a poorly understood organelle. Here the authors use interaction proteomics to identify a network of human ciliary proteins that provides new insights into several biological processes and diseases.

Karsten Boldt
Jeroen van Reeuwijk
Kathy Williamson
ResearchOpen Access13 May 2016
Nature Communications

Volume: 7, P: 1-13
Transport and barrier mechanisms that regulate ciliary compartmentalization and ciliopathies

The compartmentalized structure of primary cilia is maintained via interconnected barrier and active transport systems and underlies its unique composition and function. This Review describes the major compartmentalizing pathways that occur at the cilium and how insights into cilia transport and barrier mechanisms have shed light on the mechanisms underlying ciliary diseases.

Ailis L. Moran
Laura Louzao-Martinez
Oliver E. Blacque
Reviews23 Oct 2023
Nature Reviews Nephrology

Volume: 20, P: 83-100
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

The ciliary transition zone (TZ) at the base of cilia is thought to gate entry of proteins into the cilium. The authors characterize a role for TMEM107, a protein mutated in the ciliopathy Joubert syndrome, in organizing a submodule of the TZ.

Nils J. Lambacher
Ange-Line Bruel
Oliver E. Blacque
Research23 Nov 2015
Nature Cell Biology

Volume: 18, P: 122-131
ERICH3 in Primary Cilia Regulates Cilium Formation and the Localisations of Ciliary Transport and Sonic Hedgehog Signaling Proteins

Mona Alsolami
Stefanie Kuhns
Oliver E. Blacque
ResearchOpen Access11 Nov 2019
Scientific Reports

Volume: 9, P: 1-13
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

In an effort by several research groups, a genome-wide RNAi-based screen presents a list of validated genes involved in cilia assembly and maintenance, and reveals previously unidentified ciliopathy factors.

Gabrielle Wheway
Miriam Schmidts
Colin A. Johnson
Research13 Jul 2015
Nature Cell Biology

Volume: 17, P: 1074-1087
Environmental responsiveness of tubulin glutamylation in sensory cilia is regulated by the p38 MAPK pathway

Yoshishige Kimura
Koji Tsutsumi
Mitsutoshi Setou
ResearchOpen Access30 May 2018
Scientific Reports

Volume: 8, P: 1-13

Search

Filter By:

Search

Quick links