Results 1 to 10 of about 3,929 (211)

Enzyme kinetics and inhibition parameters of human leukocyte glucosylceramidase [PDF]

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 ...
Mesut Karatas, Senol Dogan, Emrulla Spahiu, Adna Ašić, Larisa Bešić, Yusuf Turan   +5 more
doaj   +4 more sources

Effect of Expression of Human Glucosylceramidase 2 Isoforms on Lipid Profiles in COS-7 Cells [PDF]

Metabolites, 2020
Glucosylceramide (GlcCer) is a major membrane lipid and the precursor of gangliosides. GlcCer is mainly degraded by two enzymes, lysosomal acid β-glucosidase (GBA) and nonlysosomal β-glucosidase (GBA2), which may have different isoforms because of ...
Peeranat Jatooratthawichot, Chutima Talabnin, Lukana Ngiwsara, Yepy Hardi Rustam, Jisnuson Svasti, Gavin E. Reid, James R. Ketudat Cairns   +6 more
doaj   +5 more sources

Reducing GBA2 Activity Ameliorates Neuropathology in Niemann-Pick Type C Mice. [PDF]

PLoS ONE, 2015
The enzyme glucocerebrosidase (GBA) hydrolyses glucosylceramide (GlcCer) in lysosomes. Markedly reduced GBA activity is associated with severe manifestations of Gaucher disease including neurological involvement.
André R A Marques, Jan Aten, Roelof Ottenhoff, Cindy P A A van Roomen, Daniela Herrera Moro, Nike Claessen, María Fernanda Vinueza Veloz, Kuikui Zhou, Zhanmin Lin, Mina Mirzaian, Rolf G Boot, Chris I De Zeeuw, Herman S Overkleeft, Yildiz Yildiz, Johannes M F G Aerts   +14 more
doaj   +23 more sources

A novel class of allosteric glucosylceramidase beta 1 correctors that reduce cellular stress and enhance lysosomal function

bioRxiv
Mutations in glucosylceramidase beta 1 (GCase) disrupt the protein’s conformational maturation in the endoplasmic reticulum (ER) and hinder its transport to the lysosome.
Fregno I, Pérez-Carmona N, Rudinskiy M, Soldà T, Bergmann TJ, Ruano A, Delgado A, Cubero E, Bellotto M, García-Collazo AM, Molinari M.   +10 more
europepmc   +3 more sources

Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution. [PDF]

Cureus
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder resulting from pathogenic variants in the GBA1 gene, which encodes the enzyme glucocerebrosidase.
Kumar N, Dange P, Samadder A, Kalita S, Kaushik JS.   +4 more
europepmc   +2 more sources

Autophagic dysregulation triggers innate immune activation in glucocerebrosidase deficiency [PDF]

Autophagy Reports
Mutations 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, Alexander J. Hull, Kerri J. Kinghorn   +2 more
doaj   +2 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

Chromosome-specific families in Vibrio genomes [PDF]

Frontiers in Microbiology, 2014
We have compared chromosome-specific genes in a set of 18 finished Vibrio genomes, and, in addition, also calculated the pan- and core-genomes from a data set of more than 250 draft Vibrio genome sequences.
Oksana eLukjancenko, David W. Ussery, David W. Ussery   +2 more
doaj   +4 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