Results 21 to 30 of about 3,930 (214)

Interaction of saposins, acidic lipids, and glucosylceramidase.

Journal of Biological Chemistry, 1990
Activity of lysosomal glucosylceramidase is stimulated by two small glycoproteins, saposin A and C, which are, together with two other similar glycoproteins, derived from a single precursor protein. This enzyme is also stimulated by naturally occurring acidic lipids, such as phosphatidylserine and gangliosides. Using highly purified glucosylceramidase,
Sachio Morimoto, Y Kishimoto, John M. Tomich, Solly Weiler, Toya Ohashi, J. A. Barranger, Keith A. Kretz, J S O′Brien   +7 more
semanticscholar   +4 more sources

New Variant Mutation of Glucosylceramidase Beta (GBA) and Early Enzyme Replacement Therapy for Neuronopathic Gaucher Disease: A Case Report and Literature Review

Iranian Journal of Pediatrics, 2020
Introduction: Types 2 and 3 Gaucher disease (GD) are neuronopathic forms that are mainly distinguished by the rate of neurological degeneration. All symptomatic children with type 1 or 3 GD should receive enzyme replacement therapy (ERT), whereas the ...
Daiji Takajo, Hiroshi Matsumoto, Takahiro Noguchi, Naoto Nishimura, Shigeaki Nonoyama   +4 more
openalex   +3 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

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

Journal of Biological Chemistry, 2019
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.
Guangyi Dai, Jian Yin, Kai-En Li, Ding‐Kang Chen, Zhe Liu, Fangcheng Bi, Chan Rong, Nan Yao   +7 more
openalex   +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

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

Identification and Development of Biphenyl Substituted Iminosugars as Improved Dual Glucosylceramide Synthase/Neutral Glucosylceramidase Inhibitors

Journal of Medicinal Chemistry, 2014
This work details the evaluation of a number of N-alkylated deoxynojirimycin derivatives on their merits as dual glucosylceramide synthase/neutral glucosylceramidase inhibitors. Building on our previous work, we synthesized a series of D-gluco and L-ido-configured iminosugars N-modified with a variety of hydrophobic functional groups.
Amar T. Ghisaidoobe, Richard J. B. H. N. van den Berg, Saleem S. Butt, Anneke Strijland, Wilma E. Donker‐Koopman, Saskia Scheij, Adrianus M. C. H. van den Nieuwendijk, Gerrit‐Jan Koomen, Arnold van Loevezijn, Mark Leemhuis, Tom Wennekes, Mario van der Stelt, Gijsbert A. van der Marel, C. A. A. VAN BOECKEL, Johannes M. F. G. Aerts, Herman S. Overkleeft   +15 more
semanticscholar   +5 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

Glucosylceramide transfer from lysosomes—the missing link in molecular pathology of glucosylceramidase deficiency: A hypothesis based on existing data [PDF]

Journal of Inherited Metabolic Disease, 2006
SummaryGaucher disease (GD), deficiency of acid glucosylceramidase (GlcCer‐ase) is characterized by deficient degradation of beta‐glucosylceramide (GlcCer). It is well known that, in GD, the lysosomal accumulation of uncleaved GlcCer is limited to macrophages, which are gradually converted to storage cells with well known cytology—Gaucher cells (GCs ...
M. Elleder
semanticscholar   +4 more sources