Search results for "VPS"

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors

2020

International audience; Purpose: Cohen syndrome (CS) is a rare genetic disorder caused by variants of the VPS13B gene. CS patients are affected with a severe form of retinal dystrophy, and in several cases cataracts also develop. The purpose of this study was to investigate the mechanisms and risk factors for cataract in CS, as well as to report on cataract surgeries in CS patients.Methods: To understand how VPS13B is associated with visual impairments in CS, we generated the Vps13b∆Ex3/∆Ex3 mouse model. Mice from 1 to 3 months of age were followed by ophthalmoscopy and slit-lamp examinations. Phenotypes were investigated by histology, immunohistochemistry, and western blot. Literature anal…

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary toVPS13Bmutations

2013

Over one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive chorioretinal dystrophy, and neutropenia. We report on a patient carrying two VPS13B splicing mutations with an atypical phenotype that included microcephaly, retinopathy, and congenital neutropenia, but neither obesity nor ID. RNA analysis of the IVS34+2T_+3AinsT mutation did not reveal any abnormal splice fragments but mRNA quantification showed a significant decrease in VPS13B expression. RNA sequencing analysis up- and downstream from the IVS57+2T>C…

Integral approach to the safety design of the EU-DEMO Helium-Cooled Pebble Beds with reference to the associated relevant systems

2020

γ2-Adaptin is functioning in the late endosomal sorting pathway and interacts with ESCRT-I and -III subunits.

2010

Abstractγ2-Adaptin is a clathrin adaptor-related protein with unclear physiological function. Previous studies indicated that γ2-adaptin might act within the multivesicular body (MVB) protein-sorting pathway that is central to receptor down-regulation, lysosome biogenesis, and budding of enveloped viruses. Here, we have analyzed the effects of excess and deficit γ2-adaptin on exogenous and endogenous MVB cargoes and on the MVB machinery itself. Foreign cargoes, like retroviral Gags, are entrapped by overexpressed γ2-adaptin in detergent-insoluble polymers and blocked in budding. When viral budding involves MVB/endosomal structures, excess γ2-adaptin acts by accelerating lysosomal Gag destru…

Cohen syndrome is associated with major glycosylation defects

2014

International audience; Cohen syndrome (CS) is a rare autosomal recessive disorder with multisytemic clinical features due to mutations in the VPS13B gene, which has recently been described encoding a mandatory membrane protein involved in Golgi integrity. As the Golgi complex is the place where glycosylation of newly synthesized proteins occurs, we hypothesized that VPS13B deficiency, responsible of Golgi apparatus disturbance, could lead to glycosylation defects and/or mysfunction of this organelle, and thus be a cause of the main clinical manifestations of CS. The glycosylation status of CS serum proteins showed a very unusual pattern of glycosylation characterized by a significant accum…

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

2012

Abstract: Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease. Although additional missense variants were described, their pathogenic role yet remains inconclusive. Methods and results We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any sig…

Integrated design of breeding blanket and ancillary systems related to the use of helium or water as a coolant and impact on the overall plant design

2021

Currently, for the EU DEMO, two Breeding Blankets (BBs) have been selected as potential candidates for the integration in the reactor. They are the Water Cooled Lithium Lead and the Helium Cooled Pebble Bed BB concepts. The two BB variants together with the associated ancillary systems drive the design of the overall plant. Therefore, a holistic investigation of integration issues derived by the BB and the installation of its ancillary systems has been performed. The issues related to the water activation due to the 16N and 17N isotopes and the impact on the primary heat transfer systems have been investigated providing guidelines and dedicated solution for the integration of safety devices…

Pašvaldību datu pārlūka JUPIS papildinājumi

2019

Kvalifikācijas darba mērķis ir izstrādāt ZZ Dats JUPIS sistēmai jaunu sadaļu “zemes vienības”, un papildināt eksistējošās “īpašumu” sadaļas funkcionalitāti. Izstrādājamā sistēmas daļa ir atbildīga par zemes vienību informācijas agregāciju, attēlošanu un drukāšanu. Izstrādātajai funkcionalitātei jāapmierina JUPIS datu apstrādes un auditēšanas prasības. Izstrādātie risinājumi paplašina JUPIS nodrošināto iespēju klāstu balstoties uz lietotāju izteiktām prasībām. Sistēma izstrādāta izmantojot .Net MVC ietvaru, C#, Angular 2[1], HTML, CSS, Typescript, Javascript un transakcionālā PL/SQL[2] programmēšanas valodas.

Data from: Temperature-associated habitat selection in a cold-water marine fish

2016

Habitat selection is a complex process, which involves behavioural decisions guided by the multiple needs and constraints faced by individuals. Climate-induced changes in environmental conditions may alter those trade-offs and resulting habitat use patterns. In this study we investigated the effect of sea temperature on habitat selection and habitat use of acoustically tagged Atlantic cod (Gadus morhua) at the Norwegian Skagerrak coast. Significant relationships between ocean temperature and habitat selection and use were found. Under favourable sea temperature thresholds (< 16°C), cod selected vegetated habitats, such as eelgrass and macroalgae beds, available in shallow areas. Selectio…