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Effective encapsulation of therapeutic recombinant enzyme into polymeric nanoparticles as a potential vehicle for lysosomal disease treatment.
Int J Biol Macromol
January 2025
Instituto de Estudios Inmunológicos y Fisiopatológicos (IIFP), Universidad Nacional de La Plata, CONICET, Asociado CIC PBA, Facultad de Ciencias Exactas, Departamento de Ciencias Biológicas, Bv. 120 N(o)1489 (1900), La Plata, Argentina. Electronic address:
Article Synopsis
- Gaucher Disease (GD) is a genetic condition caused by a deficiency in the enzyme glucocerebrosidase, and Velaglucerase alfa is used to replace this enzyme through therapy.
- Novel nanoparticle systems made from Eudragit have been developed to enhance the delivery and effectiveness of Velaglucerase alfa, demonstrating high stability and efficient encapsulation.
- In laboratory studies, these nanoparticles showed improved interaction with important proteins, better enzyme release in acidic conditions, and increased internalization in GD cells, leading to enhanced enzyme activity without affecting cell viability.
Non-neuronopathic Gaucher disease (Type I) in an elderly female: a case report.
Ann Med Surg (Lond)
November 2024
Department of General and Gastrointestinal Surgery, Nepal Mediciti, Lalitpur, Nepal.
Introduction And Importance: Gaucher disease is a rare autosomal recessive lysosomal storage disorder marked by a substantial reduction in beta-glucocerebrosidase activity. Historically, supportive treatments such as splenectomy and orthopedic interventions were employed, whereas recent advances have led to the approval of Enzyme Replacement Therapy (ERT) and Substrate Reduction Therapy (SRT) as therapeutic options.
Case Presentation: The authors present the case of a 61-year-old female with chronic abdominal pain, abdominal fullness, pancytopenia, and hepatosplenomegaly, all indicative of Gaucher's disease, later confirmed by histopathological examination.
Functional Analysis of Human Missense Mutations in : Insights into Gaucher Disease Pathogenesis and Phenotypic Consequences.
Cells
September 2024
Shmunis School of Biomedicine and Cancer Research, Faculty of Life Sciences, Tel Aviv University, Tel Aviv 69978, Israel.
The human gene encodes lysosomal acid β-glucocerebrosidase, whose activity is deficient in Gaucher disease (GD). In , there are two orthologs, and , and is the bona fide GCase encoding gene. Several fly lines with different deletions in the were studied in the past.
View Article and Find Full Text PDF6-O-alkyl 4-methylumbelliferyl-β-D-glucosides as selective substrates for GBA1 in the discovery of glycosylated sterols.
J Lipid Res
November 2024
Medical Biochemistry, Leiden Institute of Chemistry (LIC), Leiden University, RA Leiden, The Netherlands. Electronic address:
Article Synopsis
- Gaucher disease (GD) is a genetic lysosomal storage disorder caused by a deficiency in the enzyme glucocerebrosidase (GBA1), and its diagnosis typically employs assays that can be compromised by background activity from other enzymes.
- Researchers have developed a selective fluorogenic substrate called 6-O-alkyl-4MU-β-Glc, which effectively targets GBA1 and avoids interference from other enzymes, making it suitable for diagnosing GD.
- Additionally, analyses of spleen samples from GD patients revealed increased levels of acylated and regular glycosyl lipids, highlighting a potential link between plant-derived glycosyl phytosterols and the disease, raising questions about their role in developing conditions like Parkinson's
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