Enzyme kinetics and inhibition parameters of human leukocyte glucosylceramidase
Heliyon, 2020 Glucosylceramidase (GCase) is a lysosomal enzyme that catalyzes the cleavage of β-glucosidic linkage of glucocerebroside (GC) into glucose and ceramide; thereby, plays an essential function in the degradation of complex lipids and the turnover of ...
Adna Asic, Mesut Karatas, Senol Dogan
exaly +3 more sources
Synuclein Disorder-Related Genetic Determinants of Mild Behavioural Impairment in a Pre-Clinical Community Cohort. [PDF]
Int J Geriatr PsychiatryABSTRACT Background The GBA variant confers increased risk of synuclein disorders but it is unclear what impact it has in pre‐clinical groups. This study aimed to identify early psychiatric and cognitive manifestations amongst pre‐clinical GBA carriers in a community cohort.
Sander-Long M +5 more
europepmc +2 more sources
Autophagic dysregulation triggers innate immune activation in glucocerebrosidase deficiency [PDF]
Autophagy ReportsMutations in the GBA1 (glucosylceramidase beta 1) gene cause the most common lysosomal storage disorder, Gaucher disease (GD), characterized by the lysosomal accumulation of glucosylceramide and lysosomal dysfunction.
Magda L. Atilano +2 more
doaj +2 more sources
The role of lipid metabolism in neuronal senescence. [PDF]
FEBS Open BioDisrupted lipid metabolism, through alterations in lipid species or lipid droplet accumulation, can drive neuronal senescence. However, lipid dyshomeostasis can also occur alongside neuronal senescence, further amplifying tissue damage. Delineating how lipid‐induced senescence emerges in neurons and glial cells, and how it contributes to ageing and ...
Tsagkari D +2 more
europepmc +2 more sources
HEPES in Cell Culture Alters the Multi-Omics Profile Exhibited by Gaucher Disease Fibroblasts. [PDF]
J Cell BiochemABSTRACT 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 +14 more
europepmc +2 more sources
Transcriptomic signatures in Gaucher disease subtypes: A systems biology perspective [PDF]
Molecular Genetics and Metabolism ReportsGaucher 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 +2 more
doaj +2 more sources
Application of CRISPR/Cas9 technology in the modeling of Gaucher disorder [PDF]
Biochemistry and Biophysics ReportsGaucher disease (GD) is a metabolic disorder caused by mutations in the GBA1, located on 1q22. This gene encodes glucocerebrosidase (glucosylceramidase) enzyme.
Mehran Reyhani-Ardabili +2 more
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 PediatricsObjectiveTo 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 +3 more
doaj +2 more sources
Identification of plasma biomarkers in a PTZ-induced Sudden Unexpected Death-like model through integrated proteomics and metabolomics methods [PDF]
Frontiers in MedicineIntroductionSudden Unexpected Death in Epilepsy (SUDEP) refers to the unexplained, sudden death of individuals with epilepsy, and its incidence is closely linked to the severity and duration of seizures.
Gaolin Zheng +6 more
doaj +2 more sources
Morbus gaucher: A report of two cases [PDF]
Vojnosanitetski Pregled, 2006 Backround. Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918).
Đokić Milomir
doaj +1 more source