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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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Abelson helper integration site 1 (AHI1) is associated with several neuropsychiatric and brain developmental disorders, such as schizophrenia, depression, autism, and Joubert syndrome. Ahi1 deficiency in mice leads to behaviors typical of depression. However, the mechanisms by which AHI1 regulates behavior remain to be elucidated. Here, we found that down-regulation of expression of the rate-limiting enzyme in dopamine biosynthesis, tyrosine hydroxylase (TH), in the midbrains of Ahi1-knockout (KO) mice is responsible for Ahi1-deficiency–mediated depressive symptoms. We also found that Rev-Erbα, a TH transcripti...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Molecular Bases of Disease Source Type: research
DiscussionCiliary genes like DRD1 and DRD2 are implicated in neurotransmission and associated with schizophrenia. DRD1 has 4 novel interactors and DRD2 has 12 novel interactors that may have significant role in the pathology of mental disorders. Neuronal pathways associated with cilia interactome with high statistical significance such as dopamine signaling, eNOS signaling, synaptic long-term potentiation pathways are known to be associated schizophrenia. Wnt signaling and PCP signaling are also known to be associated with cilia mediated neurodevelopmental signaling, defects in these pathways contributing to schizophrenia....
Source: Schizophrenia Bulletin - Category: Psychiatry Source Type: research
versade B, Kariminejad A Abstract Mutations in CPLANE1 (previously known as C5orf42) cause Oral-Facial-Digital Syndrome type VI (OFD6) as well as milder Joubert syndrome (JS) phenotypes. Seven new cases from five unrelated families diagnosed with pure OFD6 were systematically examined. Based on the clinical manifestations of these patients and those described in the literature, we revised the diagnostic features of OFD6 and include the seven most common characteristics: 1) molar tooth sign, 2) tongue hamartoma and/or lobulated tongue, 3) additional frenula, 4) mesoaxial polydactyly of hands, 5) preaxial polydactyl...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Abstract OBJECTIVE: Prenatal diagnosis of midbrain-hindbrain malformations rely primarily on abnormal size and shape of the cerebellum and retrocerebellar space. The aim of this study was to present the 4th ventricle index (4VI), and to evaluate its role as a marker of severe vermian dysgenesis / agenesis cases without an open 4th ventricle (4v). METHODS: This prospective cross-sectional study included 384 healthy fetuses between 14 to 37 gestational weeks. Axial images of the 4v were obtained and the 4VI was calculated as the ratio between the latero-lateral and anteroposterior diameters. Reference ranges we...
Source: The Ultrasound Review of Obstetrics and Gynecology - Category: Radiology Authors: Tags: Ultrasound Obstet Gynecol Source Type: research
Abstract ObjectivePrenatal diagnosis of midbrain‐hindbrain malformations rely primarily on abnormal size and shape of the cerebellum and retrocerebellar space. The aim of this study was to present the 4th ventricle index (4VI), and to evaluate its role as a marker of severe vermian dysgenesis / agenesis cases without an open 4th ventricle (4v). MethodsThis prospective cross‐sectional study included 384 healthy fetuses between 14 to 37 gestational weeks. Axial images of the 4v were obtained and the 4VI was calculated as the ratio between the latero‐lateral and anteroposterior diameters. Reference ranges were construct...
Source: Ultrasound in Obstetrics and Gynecology - Category: Radiology Authors: Tags: Original Paper Source Type: research
Conclusions:In JS, probable portal hypertension is associated with abnormal hepatic enzymes, as well as presence of kidney disease, coloboma, and/or mutation in TMEM67. These findings may allow early identification of JS patients who have or are more likely to develop liver disease. Background and Aims: Joubert Syndrome (JS) is a rare, inherited, ciliopathy defined by cerebellar and brainstem malformations and is variably associated with liver, kidney, and ocular dysfunction. This study characterizes the hepatic findings in JS and identifies factors associated with probable portal hypertension. Methods: Hundred indi...
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Original Articles: Hepatology Source Type: research
Publication date: Available online 1 February 2018 Source:Journal of Structural Biology Author(s): Ashwani Sharma, Samuel F. Gerard, Natacha Olieric, Michel O. Steinmetz Centrioles 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 three C...
Source: Journal of Structural Biology - Category: Biology Source Type: research
Publication date: Available online 9 January 2018 Source:Stem Cell Research Author(s): Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary ci...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Arf-like protein 13b (ARL13b) is a small GTPase that functions as a guanosine nucleotide exchange factor (GEF) for ARL3-GDP. ARL13b is located exclusively in photoreceptor outer segments (OS) presumably anchored to discs by palmitoylation, whereas ARL3 is an inner segment cytoplasmic protein. Hypomorphic mutations affecting the ARL13b G-domain inactivate GEF activity and lead to Joubert syndrome (JS) in humans. However, the molecular mechanisms in ARL13b mutation–induced Joubert syndrome, particularly the function of primary cilia, are still incompletely understood. Because Arl13b germline knockouts in mouse are leth...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Molecular Bases of Disease Source Type: research
SUMMARY: In Joubert syndrome, the "molar tooth" sign can be associated with several additional supra- and infratentorial malformations. Here we report on 3 subjects (2 siblings, 8–14 years of age) with Joubert syndrome, showing an abnormal thick bulging of the anterior profile of the mesencephalon causing a complete obliteration of the interpeduncular fossa. DTI revealed that the abnormal tissue consisted of an ectopic white matter tract with a laterolateral transverse orientation. Tractographic reconstructions support the hypothesis of impaired axonal guidance mechanisms responsible for the malformation. T...
Source: American Journal of Neuroradiology - Category: Radiology Authors: Tags: PEDIATRICS Source Type: research
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