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 …
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 …
Open sesame: how transition fibers and the transition zone control ciliary composition
FR Garcia-Gonzalo, JF Reiter - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Cilia are plasma membrane protrusions that act as cellular propellers or antennae. To
perform these functions, cilia must maintain a composition distinct from those of the …
perform these functions, cilia must maintain a composition distinct from those of the …
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 …
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …
The primary cilium as a cellular receiver: organizing ciliary GPCR signaling
KI Hilgendorf, CT Johnson, PK Jackson - Current opinion in cell biology, 2016 - Elsevier
The primary cilium is an antenna-like cellular protrusion mediating sensory and
neuroendocrine signaling. Its localization within tissue architecture and a growing list of cilia …
neuroendocrine signaling. Its localization within tissue architecture and a growing list of cilia …
Small-molecule modulation of Ras signaling
J Spiegel, PM Cromm, G Zimmermann… - Nature chemical …, 2014 - nature.com
Despite intense efforts in pharmaceutical industry and academia, a therapeutic grip on
oncogenic Ras proteins has remained elusive. Mutated Ras is associated with∼ 20− 30% of …
oncogenic Ras proteins has remained elusive. Mutated Ras is associated with∼ 20− 30% of …
[HTML][HTML] Cilia, ciliopathies and hedgehog-related forebrain developmental disorders
A Andreu-Cervera, M Catala… - Neurobiology of …, 2021 - Elsevier
Abstract Development of the forebrain critically depends on the Sonic Hedgehog (Shh)
signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in …
signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in …
[HTML][HTML] How the ciliary membrane is organized inside-out to communicate outside-in
G Garcia, DR Raleigh, JF Reiter - Current Biology, 2018 - cell.com
Cilia, organelles that move to execute functions like fertilization and signal to execute
functions like photoreception and embryonic patterning, are composed of a core of nine-fold …
functions like photoreception and embryonic patterning, are composed of a core of nine-fold …
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) …
responses. This process, called phototransduction, takes place in the outer segments (OS) …
[HTML][HTML] The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity
MA Parisi - Translational science of rare diseases, 2019 - content.iospress.com
Abstract Joubert syndrome (JS; MIM PS213300) is a rare, typically autosomal recessive
disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the …
disorder characterized by cerebellar vermis hypoplasia and a distinctive malformation of the …