Glucosylsphingosine is a reliable response biomarker in Gaucher disease

American Journal of Hematology, EarlyView.
Source: American Journal of Hematology - Category: Hematology Source Type: research

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Publication date: Available online 15 February 2019Source: Molecular Genetics and MetabolismAuthor(s): Areian Eghbali, Shahzeb Hassan, Gurpreet Seehra, Edmond FitzGibbon, Ellen SidranskyAbstractGaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the gene GBA1, which encodes the lysosomal protein glucocerebrosidase. Patients with Gaucher disease generally have a variety of clinical manifestations ranging from visceral to neurological involvement and some develop ocular involvement. The most commonly affected organs include the spleen, liver, and bone. Moreover, patients often have hep...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Authors: Lachmann RH Abstract A number of lysosomal storage disorders (LSDs) are characterized by glycosphingolipid (GSL) storage in the brain. Although enzyme-replacement therapy is an effective treatment for the visceral manifestations of some of these disorders, this approach has not, to date, been useful in CNS disease. Substrate reduction therapy (SRT) is an alternative approach to treatment in which the aim is to reduce the rate of synthesis of GSL to a level where the residual enzyme activity in the affected cell can prevent lysosomal storage. Miglustat, an iminosugar, is an inhibitor of the first step of GS...
Source: Expert Review of Endocrinology and Metabolism - Category: Endocrinology Tags: Expert Rev Endocrinol Metab Source Type: research
Authors: Rosenbloom BE, Weinreb NJ Abstract Gaucher disease is an inborn error of metabolism due to a deficiency of the lysosomal enzyme glucocerebrosidase. As a result of this deficiency, the substrate glucocerebroside accumulates in the liver, spleen, bone and bone marrow. Bone involvement can lead to abnormalities in bone growth, bone remodeling, bone infarcts, aseptic necrosis, osteonecrosis, increased fracture risk and lytic bone lesions. Patients may experience bone pain and bone crises related to bone infarcts. There is evidence of abnormal bone metabolism in both bone resorption and bone formation based upo...
Source: Expert Review of Endocrinology and Metabolism - Category: Endocrinology Tags: Expert Rev Endocrinol Metab Source Type: research
Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undeg...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Research article Source Type: research
ACS Medicinal Chemistry LettersDOI: 10.1021/acsmedchemlett.8b00602
Source: ACS Medicinal Chemistry Letters - Category: Chemistry Authors: Source Type: research
Publication date: February 2019Source: Molecular Genetics and Metabolism, Volume 126, Issue 2Author(s): Raphael Schiffmann, Eugen Mengel, Nigel Crawford, Sebastiaan Gaemers, Derralynn Hughes, Ana Jovanovic, Pascal Minini, Jyoti Sharma, Tanya Fischer
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Publication date: February 2019Source: Molecular Genetics and Metabolism, Volume 126, Issue 2Author(s): Kirill Savostyanov, Alexander Pushkov, Lubov’ Mura’vova, Goar Movsisyan, Anastasia Rykunova, Rodion Ponomarev, Kira Lukina, Elena Lukina, Leyla Namazova-Baranova
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Publication date: February 2019Source: Molecular Genetics and Metabolism, Volume 126, Issue 2Author(s): Markku Savolainen, Antti Karlsson, Iiro Toppila, Kaisa Elomaa, Zoya Panahloo, Maija Wolf
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Publication date: February 2019Source: Molecular Genetics and Metabolism, Volume 126, Issue 2Author(s): Angela Sanchez, Robert A. Ali, Neal J. Weinreb, Nicole K. Osorio, Daniel P. Cassidy, Kyle White, Jennifer R. Chapman, James E. Hoffman, Francisco Vega, Offiong F. Ikpatt, Offiong F. Ikpatt
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Publication date: February 2019Source: Molecular Genetics and Metabolism, Volume 126, Issue 2Author(s): Matheus V.M.B. Wilke, Alicia D. Dorneles, Artur S. Schuh, Filippo P. Vairo, Tatiele Nalin, Tassia Tonon, Ida V.D. Schwartz
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
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