A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

ConclusionThis study expands the mutation spectrum of GD and highlights the importance of RNA sequencing for the molecular diagnosis of patients bearing mutations in nonexonic regions.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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To assess magnetic resonance spectroscopy (MRS) bone marrow fat fractions' ability to discern between untreated Gaucher disease patients and healthy controls based on assessment of bone marrow infiltration and evaluate response to enzyme replacement therapy (ERT) on serial imaging.
Source: Clinical Imaging - Category: Radiology Authors: Tags: Pediatric Radiology Source Type: research
y Levade Nathalie Andrieu-Abadie The roles of ceramide and its catabolites, i.e., sphingosine and sphingosine 1-phosphate, in the development of malignancies and the response to anticancer regimens have been extensively described. Moreover, an abundant literature points to the effects of glucosylceramide synthase, the mammalian enzyme that converts ceramide to β-glucosylceramide, in protecting tumor cells from chemotherapy. Much less is known about the contribution of β-glucosylceramide and its breakdown products in cancer progression. In this chapter, we first review published and personal clinical...
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Gaucher disease (GD), a rare lysosomal storage disorder caused by deficient glucocerebrosidase activity and consequent accumulation of glycosphingolipids in the mononuclear phagocyte system, may progress to disabling and potentially life-threatening complications when left undiagnosed and untreated. Unfortunately, because of non-specific signs and symptoms and lack of awareness, patients with type 1 GD, the most common non-neuropathic variant, frequently experience diagnostic delays. Since splenomegaly and thrombocytopenia are the dominant clinical features in many GD patients leading to first medical contact, the hepatolo...
Source: Digestive and Liver Disease - Category: Gastroenterology Authors: Tags: Review Article Source Type: research
Publication date: Available online 5 February 2020Source: Molecular Genetics and MetabolismAuthor(s): Shiny Nair, Noffar Bar, Mina L. Xu, Madhav Dhodapkar, Pramod K. MistryAbstractIn Gaucher disease type 1 (GD1), genetic deficiency of lysosomal glucocerebrosidase results in the accumulation of glucosylceramide and glucosylsphingosine (GlcSph), that underlie chronic lipid-mediated metabolic inflammation. An important age-related phenotype is high risk of monoclonal gammopathy (MG), including multiple myeloma. We identified GlcSph, a pathological lyso-sphingolipid exclusively elevated in GD, as a mediator of B cell activatio...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Publication date: February 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 2Author(s): Ana C. Vásquez Salazar, Alfredo Uribe Ardila
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Publication date: February 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 2Author(s): Chanan Stauffer, Margo S. Breilyn, Manisha Balwani
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Publication date: February 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 2Author(s): Rodrigo T. Starosta, Marina Siebert, Ida Vanessa D. Schwartz, Carlos Thadeu S. Cerski
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Publication date: February 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 2Author(s): Pankaj Sharma, Shruthi Santhanakrishnan, Alta Steward, Barbara Stubblefield, Grisel Lopez, Nahid Tayebi, Ellen Sidransky
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Publication date: February 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 2Author(s): Christine Serratrice, Jérôme Stirnemann, Amina Berrahal, Nadia Belmatoug, Fabrice Camou, Thierry Billette de Villemeur, Florence Dalbies, Bérangère Cador, Agathe Masseau, Anaïs Brassier, Bénédicte Hivert, Laure Swiader, Ivan Bertchansky, Claire de Moreuil, Brigitte Chabrol, Isabelle Durieu, Vanessa Leguy-Seguin, Leonardo Astudillo, Sébastien Humbert, Samia Pichard
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Publication date: February 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 2Author(s): Christine Serratrice, Patrick Chérin, Olivier Lidove, Esther Noël, Agathe Masseau, Vanessa Leguy-Seguin, Roland Jaussaud, Isabelle Marie, Christian Lavigne, François Maillot
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
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