Genes and molecular pathways underpinning ciliopathies
Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The
dysfunction of cilia causes diseases known as ciliopathies. The number of reported …
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 …
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 …
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …
Biochemically validated structural model of the 15‐subunit intraflagellar transport complex IFT‐B
Cilia are ubiquitous eukaryotic organelles impotant for cellular motility, signaling, and
sensory reception. Cilium formation requires intraflagellar transport of structural and …
sensory reception. Cilium formation requires intraflagellar transport of structural and …
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 …
remains unknown because of difficulties in cataloguing proteins from mammalian primary …
Genotype–phenotype correlates in Joubert syndrome: A review
Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …
[HTML][HTML] Neurocristopathies: New insights 150 years after the neural crest discovery
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 …
an astonishingly diverse array of cell types during vertebrate development. These cells …
Mechanism of IFT-A polymerization into trains for ciliary transport
Intraflagellar transport (IFT) is the highly conserved process by which proteins are
transported along ciliary microtubules by a train-like polymeric assembly of IFT-A and IFT-B …
transported along ciliary microtubules by a train-like polymeric assembly of IFT-A and IFT-B …
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project
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 …
their families. Over half of the children living with one of these conditions are without a …
[HTML][HTML] Ciliogenesis membrane dynamics and organization
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 …
These organelles play essential roles in motility and signaling on the surface of cells. Cilia …