Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution [PDF]
CureusNaveen Kumar +4 more
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Human Gene Therapy, 2019 Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA gene. Enzyme replacement treatment is the most effective therapy available for type 1 GD patients, but it is very expensive and does not improve ...
Si-chen Du +8 more
semanticscholar +3 more sources
Biodistribution of AAV1, AAV5, AAV9, and AAVDJ serotypes after intra-cisterna magna delivery in non-human primates [PDF]
Molecular Therapy: Methods & Clinical DevelopmentDelivering drugs effectively to the central nervous system (CNS) is a major challenge in drug development, including adeno-associated virus (AAV) gene therapy.
Takuro Okai +12 more
doaj +2 more sources
The N370S (Asn370→Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C [PDF]
Biochemical Journal, 2005 Rosa Salvioli +8 more
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Paenibacillus sp. TS12 glucosylceramidase: kinetic studies of a novel sub-family of family 3 glycosidases and identification of the catalytic residues [PDF]
Biochemical Journal, 2004 Krisztina Paál +2 more
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Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience [PDF]
ChildrenObjective: The classification of hereditary spastic paraplegia (HSP) is based on genetics, and the number of genetic loci continues to increase with new genetic descriptions.
Seyda Besen +6 more
doaj +2 more sources
Preclinical investigation of artesunate as a therapeutic agent for hepatocellular carcinoma via impairment of glucosylceramidase-mediated autophagic degradation [PDF]
Experimental & Molecular Medicine, 2022 AbstractArtesunate (ART) has been indicated as a candidate drug for hepatocellular carcinoma (HCC). Glucosylceramidase (GBA) is required for autophagic degradation. Whether ART regulates autophagic flux by targeting GBA in HCC remains to be defined. Herein, our data demonstrated that the dramatic overexpression of GBA was significantly associated with ...
Wenjia Chen +12 more
openalex +3 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
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 ...
Guangyi Dai +7 more
openalex +3 more sources