Search results for "13b"
showing 10 items of 10 documents
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…
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…
Investigating CRISPR-CAS13b as a tool for the RNA editing of CFTR mRNA with premature stop codon
2020
Background and Rationale Some CF patients are compound heterozygous or homozygous for nonsense mutations in the CFTR gene. Mutant CFTR gene coding for transcripts with premature termination codons (PTCs) is responsible for truncated CFTR protein and for a severe form of the disease. In a precision medicine framework the “REPAIRv2” (RNA Editing for Programmable A to I Replacement v2) tool, developed in the laboratory of Dr. Feng Zhang (USA), seems a good alternative to restore the full-length CFTR protein by editing its mRNA containing PTCs. This new approach is based on the possibility of targeting a deaminase enzyme (huADAR2) to a specific Adenosine, to be edited to Inosine (G analogue), o…
CCDC 1047644: Experimental Crystal Structure Determination
2017
Related Article: Michael Mirion, Lars Andernach, Caroline Stobe, Joaquin Barjau, Dieter Schollmeyer, Till Opatz, Arne Lützen, Siegfried R. Waldvogel|2015|Eur.J.Org.Chem.|2015|4876|doi:10.1002/ejoc.201500600
CCDC 1047645: Experimental Crystal Structure Determination
2017
Related Article: Michael Mirion, Lars Andernach, Caroline Stobe, Joaquin Barjau, Dieter Schollmeyer, Till Opatz, Arne Lützen, Siegfried R. Waldvogel|2015|Eur.J.Org.Chem.|2015|4876|doi:10.1002/ejoc.201500600
CCDC 1047647: Experimental Crystal Structure Determination
2017
Related Article: Michael Mirion, Lars Andernach, Caroline Stobe, Joaquin Barjau, Dieter Schollmeyer, Till Opatz, Arne Lützen, Siegfried R. Waldvogel|2015|Eur.J.Org.Chem.|2015|4876|doi:10.1002/ejoc.201500600
CCDC 1047646: Experimental Crystal Structure Determination
2017
Related Article: Michael Mirion, Lars Andernach, Caroline Stobe, Joaquin Barjau, Dieter Schollmeyer, Till Opatz, Arne Lützen, Siegfried R. Waldvogel|2015|Eur.J.Org.Chem.|2015|4876|doi:10.1002/ejoc.201500600
Investigating REPAIRv2 as a Tool to Edit CFTR mRNA with Premature Stop Codons
2020
Cystic fibrosis (CF) is caused by mutations in the gene encoding the transmembrane conductance regulator (CFTR) protein. Some CF patients are compound heterozygous or homozygous for nonsense mutations in the CFTR gene. This implies the presence in the transcript of premature termination codons (PTCs) responsible for a truncated CFTR protein and a more severe form of the disease. Aminoglycoside and PTC124 derivatives have been used for the read-through of PTCs to restore the full-length CFTR protein. However, in a precision medicine framework, the CRISPR/dCas13b-based molecular tool &ldquo
CCDC 942549: Experimental Crystal Structure Determination
2015
Related Article: Christina Lohoelter, Malte Brutschy, Daniel Lubczyk and Siegfried R. Waldvogel|2013|Beilstein J.Org.Chem.|9|2821|doi:10.3762/bjoc.9.317