The tubulin code and its role in controlling microtubule properties and functions
Microtubules are core components of the eukaryotic cytoskeleton with essential roles in cell
division, sha**, motility and intracellular transport. Despite their functional heterogeneity …
division, sha**, motility and intracellular transport. Despite their functional heterogeneity …
[HTML][HTML] The X-linked retinopathies: physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
X-linked retinopathies represent a significant proportion of monogenic retinal disease. They
include progressive and stationary conditions, with and without syndromic features. Many …
include progressive and stationary conditions, with and without syndromic features. Many …
Posttranslational modifications of tubulin and cilia
D Wloga, E Joachimiak, P Louka… - Cold Spring Harbor …, 2017 - cshperspectives.cshlp.org
Tubulin undergoes several highly conserved posttranslational modifications (PTMs)
including acetylation, detyrosination, glutamylation, and glycylation. These PTMs …
including acetylation, detyrosination, glutamylation, and glycylation. These PTMs …
Cilia-The sensory antennae in the eye
Cilia are hair-like projections found on almost all cells in the human body. Originally
believed to function merely in motility, the function of solitary non-motile (primary) cilia was …
believed to function merely in motility, the function of solitary non-motile (primary) cilia was …
Spatial and proteomic profiling reveals centrosome‐independent features of centriolar satellites
Centriolar satellites are small electron‐dense granules that cluster in the vicinity of
centrosomes. Satellites have been implicated in multiple critical cellular functions including …
centrosomes. Satellites have been implicated in multiple critical cellular functions including …
Unravelling the genetics of inherited retinal dystrophies: Past, present and future
The identification of the genes underlying monogenic diseases has been of interest to
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …
clinicians and scientists for many years. Using inherited retinal dystrophies as an example of …
Genes and mutations causing autosomal dominant retinitis pigmentosa
SP Daiger, SJ Bowne… - Cold Spring …, 2015 - perspectivesinmedicine.cshlp.org
Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%–30% of
these cases are autosomal dominant retinitis pigmentosa (adRP). Like other forms of …
these cases are autosomal dominant retinitis pigmentosa (adRP). Like other forms of …
Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants
Pathogenic variants in the Retinitis pigmentosa GTPase regulator (RPGR) gene lead to a
clinically severe form of X-linked retinal dystrophy. However, it remains unclear why some …
clinically severe form of X-linked retinal dystrophy. However, it remains unclear why some …
Retinal dystrophies, genomic applications in diagnosis and prospects for therapy
Retinal dystrophies (RDs) are degenerative diseases of the retina which have marked
clinical and genetic heterogeneity. Common presentations among these disorders include …
clinical and genetic heterogeneity. Common presentations among these disorders include …
Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutations
Mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene are a major
cause of retinitis pigmentosa, a blinding retinal disease resulting from photoreceptor …
cause of retinitis pigmentosa, a blinding retinal disease resulting from photoreceptor …