CSAP localizes to polyglutamylated microtubules and promotes proper cilia function and zebrafish development [PDF]
The diverse populations of microtubule polymers in cells are functionally distinguished by different posttranslational modifications, including polyglutamylation.
Audebert S+45 more
core +1 more source
Contrary to previous predictions, we provide evidence that the small GTPase κB‐Ras possesses intrinsic hydrolytic activity. However, low nucleotide affinity leads to fast nucleotide exchange and renders κB‐Ras constitutively GTP‐bound in cells. We characterize κB‐Ras mutations occurring in tumors and define that nucleotide binding supports protein ...
René Rasche+4 more
wiley +1 more source
Arl13b Interacts With Vangl2 to Regulate Cilia and Photoreceptor Outer Segment Length in Zebrafish
Mutations in the gene ARL13B cause the classical form of Joubert syndrome, an autosomal recessive ciliopathy with variable degrees of retinal degeneration. As second-site modifier alleles can contribute to retinal pathology in ciliopathies, animal models provide a unique platform to test how genetic interactions modulate specific phenotypes.
Ping Song+4 more
openaire +3 more sources
Primary cilia modulate TLR4-mediated inflammatory responses in hippocampal neurons
Background The primary cilium is an organelle that can act as a master regulator of cellular signaling. Despite the presence of primary cilia in hippocampal neurons, their function is not fully understood.
Hyunjung Baek+11 more
doaj +1 more source
Background Serotonin receptor 5-HT6 is involved in cognition and Alzheimer’s disease (AD) development. However, the mechanism of 5-HT6 in AD pathology is not clear.
Lili Hu, Bingjie Wang, Yan Zhang
doaj +1 more source
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling [PDF]
CEP104 is an evolutionarily conserved centrosomal and ciliary tip protein. CEP104 loss-of-function mutations are reported in patients with Joubert syndrome, but their function in the etiology of ciliopathies is poorly understood.
Akhmanova, Anna+17 more
core +1 more source
ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability [PDF]
Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy, characterized by a pathognomonic hindbrain malformation. All known JBTS-genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles
Alkuraya, Fowzan S+21 more
core +1 more source
Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex [PDF]
The ventricular zone (VZ) of the developing cerebral cortex is a pseudostratified epithelium that contains progenitors undergoing precisely regulated divisions at its most apical side, the ventricular lining (VL).
Arras, G+11 more
core +4 more sources
Peribronchial Inflammatory Cell Assessment in COPD Lung Tissues
Journal of Cellular and Molecular Medicine, Volume 28, Issue 22, November 2024.
Maëva A. Devilliers+10 more
wiley +1 more source
Loss of OCRL increases ciliary PI(4,5)P2 in Lowe oculocerebrorenal syndrome [PDF]
Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts and glaucoma, mental retardation, and proximal renal tubular dysfunction. Mutations in OCRL, an inositol polyphosphate 5-phosphatase that dephosphorylates PI(4,5)P2,
Alvarado, Jorge A.+5 more
core +1 more source