Genes and molecular pathways underpinning ciliopathies

JF Reiter, MR Leroux - Nature reviews Molecular cell biology, 2017 - nature.com
Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …

Primary cilia and mammalian hedgehog signaling

F Bangs, KV Anderson - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
It has been a decade since it was discovered that primary cilia have an essential role in
Hedgehog (Hh) signaling in mammals. This discovery came from screens in the mouse that …

Ciliopathies

DA Braun, F Hildebrandt - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

Genotype–phenotype correlates in Joubert syndrome: A review

S Gana, V Serpieri, EM Valente - American Journal of Medical …, 2022 - Wiley Online Library
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

Proteomics of primary cilia by proximity labeling

DU Mick, RB Rodrigues, RD Leib, CM Adams… - Developmental cell, 2015 - cell.com
While cilia are recognized as important signaling organelles, the extent of ciliary functions
remains unknown because of difficulties in cataloguing proteins from mammalian primary …

[HTML][HTML] Neurocristopathies: New insights 150 years after the neural crest discovery

GA Vega-Lopez, S Cerrizuela, C Tribulo… - Developmental biology, 2018 - Elsevier
The neural crest (NC) is a transient, multipotent and migratory cell population that generates
an astonishingly diverse array of cell types during vertebrate development. These cells …

[HTML][HTML] Ciliogenesis membrane dynamics and organization

H Zhao, Z Khan, CJ Westlake - Seminars in cell & developmental biology, 2023 - Elsevier
Ciliogenesis is a complex multistep process used to describe assembly of cilia and flagella.
These organelles play essential roles in motility and signaling on the surface of cells. Cilia …

Photoreceptor cilia and retinal ciliopathies

KM Bujakowska, Q Liu… - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

CL Beaulieu, J Majewski, J Schwartzentruber… - The American Journal of …, 2014 - cell.com
Inherited monogenic disease has an enormous impact on the well-being of children and
their families. Over half of the children living with one of these conditions are without a …

Intraflagellar transport proteins 172, 80, 57, 54, 38, and 20 form a stable tubulin‐binding IFT‐B2 complex

M Taschner, K Weber, A Mourão, M Vetter… - The EMBO …, 2016 - embopress.org
Intraflagellar transport (IFT) relies on the IFT complex and is required for ciliogenesis. The
IFT‐B complex consists of 9–10 stably associated core subunits and six “peripheral” …