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African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in .
medRxiv
February 2024
Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Recently, a novel African ancestry specific Parkinson's disease (PD) risk signal was identified at the gene encoding glucocerebrosidase (). This variant (rs3115534-G) is carried by ~50% of West African PD cases and imparts a dose-dependent increase in risk for disease. The risk variant has varied frequencies across African ancestry groups, but is almost absent in European and Asian ancestry populations.
View Article and Find Full Text PDFAfrican ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Nat Struct Mol Biol
December 2024
Center for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Recently, an African ancestry-specific Parkinson disease (PD) risk signal was identified at the gene encoding glucocerebrosidase (GBA1). This variant ( rs3115534 -G) is carried by ~50% of West African PD cases and imparts a dose-dependent increase in risk for disease. The risk variant has varied frequencies across African ancestry groups but is almost absent in European and Asian ancestry populations.
View Article and Find Full Text PDFEffective 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.
High-throughput screening for small-molecule stabilizers of misfolded glucocerebrosidase in Gaucher disease and Parkinson's disease.
Proc Natl Acad Sci U S A
October 2024
Molecular Neurogenetics Section, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892.
Article Synopsis
- * Researchers developed high-throughput assays to find compounds that correct severe misfolding of the pathogenic L444P-variant of GCase, screening over 10,000 compounds and identifying multiple stabilizers.
- * The study demonstrated that a specific compound, NCGC326, not only improved GCase levels but also worked well in combination with other treatments, suggesting potential for enhanced therapeutic approaches.
Generating and characterizing a comprehensive panel of CHO cells glycosylation mutants for advancing glycobiology and biotechnology research.
Sci Rep
October 2024
Bioprocessing Technology Institute, A*STAR, 20 Biopolis Way, #06-01, Centros, 138668, Singapore.
This report describes the development and characterization of a comprehensive collection of CHO cell glycosylation mutants with significant potential for advancing glycobiology and biotechnology. EPO-Fc and trastuzumab, two model molecules, were produced using these mutants to assess the effects of mutated glycogenes, and LC-MS/MS analysis was employed to quantitatively analyse their N-glycans. EPO-Fc exhibited exclusively homogeneous Man9 glycans only when nearly all α-mannosidases in the genome were inactivated, except lysosomal MAN2B1.
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