Assessment of cellular cobalamin metabolism in Gaucher disease

Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. Cl...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Research article Source Type: research

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Tosi Ruozi Enzymes have gained attention for their role in numerous disease states, calling for research for their efficient delivery. Loading enzymes into polymeric nanoparticles to improve biodistribution, stability, and targeting in vivo has led the field with promising results, but these enzymes still suffer from a degradation effect during the formulation process that leads to lower kinetics and specific activity leading to a loss of therapeutic potential. Stabilizers, such as bovine serum albumin (BSA), can be beneficial, but the knowledge and understanding of their interaction with enzymes are not fully eluc...
Source: Molecules - Category: Chemistry Authors: Tags: Article Source Type: research
Authors: SPECIAL ISSUE: FOCUS ON PEDIATRIC CARDIOLOGY, Sestito S, Parisi F, Tallarico V, Tarsitano F, Roppa K, Pensabene L, Chimenz R, Ceravolo G, Calabrò MP, De Sarro R, Moricca MT, Bonapace G, Concolino D Abstract Lysosomal storage diseases (LSDs) include a heterogeneous group of rare, inborn, metabolic diseases characterized by deficiency of lysosomal enzymes or of other proteins involved in lysosomal function, leading to multi organ system substrates accumulation, with consequent multi systemic clinical presentation. Cardiac disease is particularly important in some group of LSDs as glycogen storage dise...
Source: Journal of Biological Regulators and Homeostatic Agents - Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research
How to address the counseling of lifetime risk of developing Parkinson ’s disease in patients with Gaucher disease and their family members carrying a single variant of the GBA1 gene is not yet clearly defined. In...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Position statement Source Type: research
Publication date: Available online 18 September 2020Source: European Journal of Obstetrics &Gynecology and Reproductive BiologyAuthor(s): Veroniki Komninaka, Pagona Flevari, Theodoros Marinakis, Georgios Karkaletsis, Lina Malakou, Konstantina Repa
Source: European Journal of Obstetrics and Gynecology and Reproductive Biology - Category: OBGYN Source Type: research
In this case report, we present the bone scintigraphic findings of a 9-year-old boy with Gaucher disease who has a history of fractures to evaluate the extent of his osseous lesions. Gaucher disease is a genetic deficiency of lysosomal enzyme glucocerebrosidase, which results in the accumulation of glucocerebroside in the macrophages in the reticuloendothelial cells of the spleen, liver, and bone marrow. Most patients with type 1 Gaucher disease present a clinical or radiographic evidence of infiltrative bone disease. Lipid-filled macrophages called Gaucher cells infiltrate the bone marrow, leading to medullary expansion, ...
Source: Clinical Nuclear Medicine - Category: Nuclear Medicine Tags: Interesting Images Source Type: research
Publication date: Available online 7 September 2020Source: Stem Cell ResearchAuthor(s): Qingyang Zhao, Yazhou Cui, Jing Wang, Liang Shi, Zijuan Qi, Jing Luan, Yuang Zhang, Xiaoyan Zhou, Jinxiang Han
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Org. Biomol. Chem., 2020, Accepted Manuscript DOI: 10.1039/D0OB01522A, PaperTessa Castellan, Virginie Garcia, Fr édéric Rodriguez, Isabelle Fabing, Yevhenii Shchukin, My Lan Tran, Stephanie Ballereau, Thierry Levade, Yves Génisson, Cécile Dehoux-Baudoin A concise and asymmetric synthesis of the enantiomeric pyrrolidines 2 and ent-2 are herein reported. Both enantiomers were assessed as β-GCase inhibitors. While compound ent-2 acted as a poor competitive... The content of this RSS Feed (c) The Royal Society of Chemistry
Source: RSC - Organic and Biomolecular Chemistry - Category: Molecular Biology Authors: Source Type: research
The type 1 interferon (IFN) response is part of the innate immune response and best known for its role in viral and bacterial infection. However, this pathway is also induced in sterile inflammation such as th...
Source: Journal of Neuroinflammation - Category: Neurology Authors: Tags: Research Source Type: research
AbstractVenglustat is a small ‐molecule glucosylceramide synthase (GCS) inhibitor designed to reduce the production of glucosylceramide (GL‐1) and thus is expected to substantially reduce formation of glucosylceramide‐based glycosphingolipids. Because of its effect on glycosphingolipid formation, GCS inhibition has therape utic potential across many disorders affecting glycosphingolipid metabolism. Therefore, venglustat is under development for substrate reduction therapy in multiple diseases, including Gaucher disease type 3, Parkinson's disease associated withGBA mutations, Fabry disease, GM2 gangliosidosis, and au...
Source: Clinical Pharmacology in Drug Development - Category: Drugs & Pharmacology Authors: Tags: Original Manuscript Source Type: research
Conclusion: Half brain mRNA profiles of 28-day old untreated (Control), CBE-treated, SVNI-treated, and SVNI + CBE-treated mice were generated by deep sequencing, in triplicate, using Illumina Hiseq.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
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