Erratum: Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome

Nature Cell Biology 19, 1379 (2017). doi:10.1038/ncb3622 Author: Xiaoyu Shi, Galo Garcia, Julie C. Van De Weghe, Ryan McGorty, Gregory J. Pazour, Dan Doherty, Bo Huang &Jeremy F. Reiter
Source: Nature Cell Biology - Category: Cytology Authors: Tags: Erratum Source Type: research

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Phosphoinositides (PIs) play pivotal roles in the regulation of many biological processes. The quality and quantity of PIs is regulated in time and space by the activity of PI kinases and PI phosphatases. The number of PI-metabolizing enzymes exceeds the number of PIs with, in many cases, more than one enzyme controlling the same biochemical step. This would suggest that the PI system has an intrinsic ability to buffer and compensate for the absence of a specific enzymatic activity. However, there are several examples of severe inherited human diseases caused by mutations in one of the PI enzymes, although other enzymes wi...
Source: The Journal of Lipid Research - Category: Lipidology Authors: Tags: Thematic Reviews Source Type: research
Genetic treatments of renal ciliopathies leading to cystic kidney disease would provide a real advance in current therapies. Mutations in CEP290 underlie a ciliopathy called Joubert syndrome (JBTS). Human disease phenotypes include cerebral, retinal, and renal disease, which typically progresses to end stage renal failure (ESRF) within the first two...
Source: Proceedings of the National Academy of Sciences - Category: Science Authors: Tags: Biological Sciences Source Type: research
In conclusion, Joubert syndrome is a rare pleiotropic group of disorders with variable ocular presentations.
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Review Source Type: research
Cilia, essential motile and sensory organelles, have several compartments: the basal body, transition zone, and the middle and distal axoneme segments. The distal segment accommodates key functions, including cilium assembly and sensory activities. While the middle segment contains doublet microtubules (incomplete B-tubules fused to complete A-tubules), the distal segment contains only A-tubule extensions, and its existence requires coordination of microtubule length at the nanometer scale. We show that three conserved proteins, two of which are mutated in the ciliopathy Joubert syndrome, determine the geometry of the dist...
Source: Journal of Cell Biology - Category: Cytology Authors: Tags: Disease, Cytoskeleton, Cilia Articles Source Type: research
El Hayek S Abstract Joubert syndrome (JS) is an autosomal or X-linked recessive syndrome principally characterized by hypotonia, ataxia, cognitive impairment, and a specific finding on brain imaging called a "molar tooth sign" (MTS), which can be isolated or in conjunction with variable organ involvement. The genetic basis of JS is heterogeneous, with over 35 ciliary genes being implicated in its pathogenesis. However, some of these genes (such as PDE6D) have been associated to JS only in single families, seeking confirmation. Here we report a boy, born to first cousin parents, presenting with developme...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
This five-month-old girl with tetralogy of Fallot showed constant rapid movements to right or left one week after birth. Therefore, her parents could not establish eye contact with her. After four months, she began thrusting her head from left to right when following target objects (Fig. 1 and 2). Her limb movements did not exhibit ataxia or tremor. Ophthalmological examination did not show any abnormalities in the retina. Electroencephalography and visual evoked potentials were normal. Brain magnetic resonance imaging did not show any abnormalities, such as elongated superior cerebellar peduncles or hypoplasia of the cere...
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Visual Diagnosis Source Type: research
Ultrasound in Obstetrics&Gynecology,Volume 52, Issue S1, Page 233-233, October 2018.
Source: Ultrasound in Obstetrics and Gynecology - Category: Radiology Authors: Source Type: research
Clinical Case Reports, EarlyView.
Source: Clinical Case Reports - Category: General Medicine Authors: Source Type: research
Primary cilium is a ubiquitous, tiny organelle on the apex of the mammalian cells. Non-motile (primary) ciliopathies are diseases caused by the dysfunction of the primary cilium and they are characterized by diverse clinical and genetic heterogeneity. To date, nearly 200 genes have been shown to be associated with primary ciliopathies. Among them, tectonic genes are the important causative genes of ciliopathies. Tectonic proteins including TCTN1, TCTN2, and TCTN3 are important component proteins residing at the transition zone of cilia. Indeed, many ciliopathies have been reported to involve tectonics mutations, highlighti...
Source: Cellular Physiology and Biochemistry - Category: Cytology Source Type: research
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal-recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated with pathogenic variants in known JBTS-associated genes. Combined autozygosity mapping of both families highlighted a candidate locus on chromosome 10 (chr10: 101569997 –109106128, UCSC Genome Browser hg 19), and exome sequencing revealed two missense variants in ARL3 within the candidate locus.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Report Source Type: research
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