Results 11 to 20 of about 2,570 (187)

Challenges in the diagnosis of gaucher disease with multiple splenic lesions

Journal of Applied Hematology, 2023
The progressive nature, multisystem involvement, and delayed diagnosis of Gaucher disease (GD) make it a challenging disorder. Herein, we report the clinical and genetic findings of a patient with GD of Saudi-Arab ethnicity. In this case, a young patient
Ahmad Alshomar
doaj   +2 more sources

Salmonella Type III Secretion Effector SrfJ: A Glucosylceramidase Affecting the Lipidome and the Transcriptome of Mammalian Host Cells

International Journal of Molecular Sciences, 2023
Type III secretion systems are found in many Gram-negative pathogens and symbionts of animals and plants. Salmonella enterica has two type III secretion systems associated with virulence, one involved in the invasion of host cells and another involved in maintaining an appropriate intracellular niche.
Aguilera-Herce, Julia, Panadero-Medianero, Concepción, Sánchez-Romero, María Antonia, Balbontín, Roberto, Bernal-Bayard, Joaquín, Ramos-Morales, Francisco   +5 more
openaire   +5 more sources

HEPES in Cell Culture Alters the Multi-Omics Profile Exhibited by Gaucher Disease Fibroblasts. [PDF]

J Cell Biochem
ABSTRACT Lysosomal function can be affected by components in cell culture. This in turn may influence cellular metabolism and, consequently, research and diagnostics outcomes. One such component is the commonly used pH buffer 4‐(2‐hydroxyethyl)‐1‐piperazineethanesulfonic acid (HEPES).
Corazolla EM, Schomakers BV, Trętowicz MM, Hermans J, van Weeghel M, Vaz FM, Pras-Raves ML, Vlugt KG, Beers-Stet FS, Goorden SMI, Jansen-Meijer J, Janssens GE, Hollak CEM, Houtkooper RH, van Kuilenburg ABP.   +14 more
europepmc   +2 more sources

The Arabidopsis AtGCD3 protein is a glucosylceramidase that preferentially hydrolyzes long-acyl-chain glucosylceramides

Journal of Biological Chemistry, 2020
Cellular membranes contain many lipids, some of which, such as sphingolipids, have important structural and signaling functions. The common sphingolipid glucosylceramide (GlcCer) is present in plants, fungi, and animals. As a major plant sphingolipid, GlcCer is involved in the formation of lipid microdomains, and the regulation of GlcCer is key for ...
Fang-Cheng Bi, Nan Yao
exaly   +3 more sources

Transcriptomic signatures in Gaucher disease subtypes: A systems biology perspective [PDF]

Molecular Genetics and Metabolism Reports
Gaucher disease (GD) is a lysosomal storage disorder caused by the failure of GBA1 (Glucosylceramidase Beta 1). The aim of study was to analyze and enrich signaling pathways with transcriptomic profiles in cultured skin fibroblasts of GD subtypes (GD1 ...
Mohammad Elahimanesh, Reza Ganjali, Mohammad Najafi   +2 more
doaj   +2 more sources

Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder [PDF]

Biochemistry and Biophysics Reports
Gaucher disease (GD) is a metabolic disorder caused by mutations in the GBA1, located on 1q22. This gene encodes glucocerebrosidase (glucosylceramidase) enzyme.
Mehran Reyhani-Ardabili, Mohadeseh Fathi, Soudeh Ghafouri-Fard   +2 more
doaj   +2 more sources

Neurodegenerative Disease Risk in Carriers of Autosomal Recessive Disease [PDF]

Frontiers in Neurology, 2021
Genetics has driven significant discoveries in the field of neurodegenerative diseases (NDDs). An emerging theme in neurodegeneration warrants an urgent and comprehensive update: that carrier status of early-onset autosomal recessive (AR) disease ...
Sophia R. L. Vieira, Huw R. Morris
doaj   +2 more sources

Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience [PDF]

Frontiers in Pediatrics
ObjectiveTo evaluate the effectiveness and safety of enzyme replacement therapy (ERT) with velaglucerase alfa, and offer insights into the clinical course of patients with Gaucher disease (GD) that were diagnosed and treated early in life.Study designA ...
Ozlem Goker-Alpan, Margarita M. Ivanova, Ravi Pathak, Ekaterina Wright   +3 more
doaj   +2 more sources

The Enigmatic Role of GBA2 in Controlling Locomotor Function

Frontiers in Molecular Neuroscience, 2017
The non-lysosomal glucosylceramidase GBA2 catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Loss of GBA2 function results in accumulation of glucosylceramide.
Marina A. Woeste, Dagmar Wachten, Dagmar Wachten   +2 more
doaj   +2 more sources

Role of glucosylceramidase in cutaneous melanoma

, 2021
Cutaneous melanoma (CM) is the most severe skin cancer whom the incidence is keeping growing. Despite of the remarkable improvement of CM management thanks to the development of targeted therapies and immune checkpoint inhibitors, the prognostic of CM patients remains still bad. Some alterations in sphingolipid (SL) metabolism have been described in CM
Dubot, Patricia
openaire   +2 more sources