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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Publication date: September 2018Source: Gene Expression Patterns, Volume 29Author(s): Ping Song, Brian D. PerkinsAbstractMembers of the Arf-like (Arl) family of small GTP-binding proteins regulate a number of cellular functions and play important roles in cilia structure and signaling. The small GTPase Arl13a is a close paralog to Arl13b, a small GTPase required for normal cilia formation that causes Joubert Syndrome when mutated. As mutation of arl13b causes a slow retinal degeneration in zebrafish (Song et al., 2016), we hypothesized that expression of arl13a may provide functional redundancy. We determined the expressio...
Source: Gene Expression Patterns - Category: Genetics & Stem Cells Source Type: research
Abstract Members of the Arf-like (Arl) family of small GTP-binding proteins regulate a number of cellular functions and play important roles in cilia structure and signaling. The small GTPase Arl13a is a close paralog to Arl13b, a small GTPase required for normal cilia formation that causes Joubert Syndrome when mutated. As mutation of arl13b causes a slow retinal degeneration in zebrafish (Song et al., 2016), we hypothesized that expression of arl13a may provide functional redundancy. We determined the expression domains of arl13a and arl13b during zebrafish development and examined subcellular localization by ex...
Source: Gene Expression Patterns : GEP - Category: Genetics & Stem Cells Authors: Tags: Gene Expr Patterns Source Type: research
Publication date: July 2018Source: Journal of Structural Biology, Volume 203, Issue 1Author(s): Ashwani Sharma, Samuel F. Gerard, Natacha Olieric, Michel O. SteinmetzAbstractCentrioles are microtubule-based structures that play essential roles in cell division and cilia biogenesis. Cep120 is an important protein for correct centriole formation and mutations in the Cep120 gene cause severe human diseases like Joubert syndrome and complex ciliopathies. Here, we show that Cep120 contains three consecutive C2 domains that are followed by a coiled-coil dimerization domain. Surprisingly, unlike the classical C2 domains, all thre...
Source: Journal of Structural Biology - Category: Biology Source Type: research
ConclusionsTo our knowledge, macular staphyloma has not been described before in JS. Further work is warranted to assess the true prevalence of staphyloma in JS and its connection to retinal dystrophy.
Source: Documenta Ophthalmologica - Category: Opthalmology Source Type: research
Publication date: July 2018Source: Journal of Structural Biology, Volume 203, Issue 1Author(s): Ashwani Sharma, Samuel F. Gerard, Natacha Olieric, Michel O. SteinmetzAbstractCentrioles are microtubule-based structures that play essential roles in cell division and cilia biogenesis. Cep120 is an important protein for correct centriole formation and mutations in the Cep120 gene cause severe human diseases like Joubert syndrome and complex ciliopathies. Here, we show that Cep120 contains three consecutive C2 domains that are followed by a coiled-coil dimerization domain. Surprisingly, unlike the classical C2 domains, all thre...
Source: Journal of Structural Biology - Category: Biology Source Type: research
Conclusion: Our study provides insights into prenatal and early diagnosis of JS and expands the variation spectrum of C5orf42 gene. PMID: 29955609 [PubMed - in process]
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
CIDR Whole Exome Sequencing in Joubert Syndrome  (study page |release notes)
Source: dbGaP, the database of Genotypes and Phenotypes - Category: Genetics & Stem Cells Tags: StudyRelease Source Type: research
Publication date: 29 May 2018 Source:Cell Reports, Volume 23, Issue 9 Author(s): Nimesh Joseph, Caezar Al-Jassar, Christopher M. Johnson, Antonina Andreeva, Deepak D. Barnabas, Stefan M.V. Freund, Fanni Gergely, Mark van Breugel Ciliopathies are a group of genetic disorders caused by a failure to form functional cilia. Due to a lack of structural information, it is currently poorly understood how ciliopathic mutations affect protein functionality to give rise to the underlying disease. Using X-ray crystallography, we show that the ciliopathy-associated centriolar protein CEP120 contains three C2 domains. The point mu...
Source: Cell Reports - Category: Cytology Source Type: research
AbstractPurpose of ReviewCongenital malformations of the central nervous system may be seen in isolation or in association with syndromes that have multiorgan involvement. Among the potential health challenges these children may face, sleep concerns are frequent and may include chronic insomnia, sleep-related breathing disorders, and circadian rhythm disorders.Recent FindingsIn this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spi...
Source: Current Neurology and Neuroscience Reports - Category: Neuroscience Source Type: research
The two centrioles of the centrosome in quiescent cells are inherently asymmetric structures that differ in age, morphology and function. How these asymmetric properties are established and maintained during quiescence remains unknown. Here we show that a daughter centriole-associated ciliopathy protein, Cep120, plays a critical inhibitory role at daughter centrioles. Depletion of Cep120 in quiescent mouse and human cells causes accumulation of pericentriolar material (PCM) components including Pericentrin, Cdk5Rap2, Ninein and Cep170. The elevated PCM levels result in increased microtubule-nucleation activity at the centr...
Source: eLife - Category: Biomedical Science Tags: Cell Biology Source Type: research
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