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Current and Emerging Therapies for Lysosomal Storage Disorders.
Drugs
January 2025
Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London, NW3 2QG, UK.
Lysosomal storage disorders (LSDs) are rare inherited metabolic disorders characterized by defects in the function of specific enzymes responsible for breaking down substrates within cellular organelles (lysosomes) essential for the processing of macromolecules. Undigested substrate accumulates within lysosomes, leading to cellular dysfunction, tissue damage, and clinical manifestations. Clinical features vary depending on the degree and type of enzyme deficiency, the type and extent of substrate accumulated, and the tissues affected.
View Article and Find Full Text PDFCirculating tumor DNA (ctDNA) levels can help predict outcomes in diffuse large B-cell lymphoma (DLBCL), but its integration with DLBCL molecular clusters remains unexplored. Using the LymphGen tool in 77 DLBCL with both ctDNA and tissue biopsy, a 95.8% concordance rate in molecular cluster assignment was observed, showing the reproducibility of molecular clustering on ctDNA.
View Article and Find Full Text PDFUnsaturated Fatty Acids Are Decreased in Aβ Plaques in Alzheimer's Disease.
J Neurochem
January 2025
Center for Protein Diagnostics (PRODI) Biospectroscopy, Ruhr University Bochum, Bochum, Germany.
Alzheimer's disease (AD) is characterized by the accumulation of amyloid-beta (Aβ) plaques in the brain, contributing to neurodegeneration. This study investigates lipid alterations within these plaques using a novel, label-free, multimodal approach. Combining infrared (IR) imaging, machine learning, laser microdissection (LMD), and flow injection analysis mass spectrometry (FIA-MS), we provide the first comprehensive lipidomic analysis of chemically unaltered Aβ plaques in post-mortem human AD brain tissue.
View Article and Find Full Text PDFAn Artefact-Minimized Raman Probe for Analyzing Biological Tissues.
J Biophotonics
January 2025
Laser Biomedical Applications Division, Raja Ramanna Centre for Advanced Technology, Indore, India.
Availability of a suitable tool for carrying out non-invasive measurement of Raman signatures in situ, from biological tissues having low Raman cross section is a clinically unmet need faced with manifold challenges. A Raman probe can prove to be an invaluable component of clinical Raman diagnostic systems. We present development of a Raman probe capable of measuring artefact free Raman spectra of biological tissues in situ.
View Article and Find Full Text PDFThe epitope of the antibody used in the REAADS VWF activity assay is quaternary.
Thromb J
January 2025
Division of Hematology, Departments of Internal Medicine and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
The REAADS VWF activity assay is often assumed to be specific for the A1 domain, the portion of VWF that binds platelet GPIbα. We tested this assay on the A1A2A3 region of VWF with each domain expressed independently of one another and together in combination as a tri-domain. The monoclonal antibody used in this assay is found to be insensitive to the single A domains and does not recognize free A1 domains as it is often assumed.
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