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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 PDFClinical and laboratory characteristics of Sjögren's syndrome-associated autoimmune liver disease: a real-world, 10-year retrospective study.
Clin Rheumatol
January 2025
Department of Rheumatology and Immunology, Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology, Wuhan, China.
Objectives: To investigate the clinical and laboratory features of Sjögren's syndrome-associated autoimmune liver disease (SS-ALD) patients and identify potential risk and prognostic factors.
Methods: SS patients with or without ALD, who visited Tongji Hospital between the years 2011 and 2021 and met the 2012 American College of Rheumatology (ACR) classification criteria for Sjögren's syndrome, were retrospectively enrolled. The clinical and laboratory data of the enrolled patients, including autoimmune antibodies, were collected and analyzed with principal component analysis, correlation analysis, LASSO regression, and Cox regression.
Clinical and mechanistic insights into biomedical application of Se-enriched probiotics and biogenic selenium nanoparticles.
Biotechnol Lett
January 2025
Extremophile and Productive Microorganisms Research Center, Kerman University of Medical Sciences, Kerman, Iran.
Selenium is an essential element with various industrial and medical applications, hence the current considerable attention towards the genesis and utilization of SeNPs. SeNPs and other nanoparticles could be achieved via physical and chemical methods, but these methods would not only require expensive equipment and specific reagents but are also not always environment friendly. Biogenesis of SeNPs could therefore be considered as a less troublesome alternative, which opens an excellent window to the selenium and nanoparticles' world.
View Article and Find Full Text PDFError compensation in a redundant system during 'failure' of individual motor elements.
Exp Brain Res
January 2025
Department of Kinesiology, Michigan State University, 308 W Circle Dr, East Lansing, USA.
A characteristic feature of redundancy in the motor system is the ability to compensate for the failure of individual motor elements without affecting task performance. In this study, we examined the pattern and variability in error compensation between motor elements during a virtual task. Participants performed a redundant cursor control task with finger movements.
View Article and Find Full Text PDFThe transmembrane protein TMEM196 controls cell proliferation and determines the floor plate cell lineage.
Dev Growth Differ
January 2025
Division of Biological Sciences, Nara Institute of Science and Technology, Ikoma, Japan.
The neural tube, the embryonic precursor to the vertebrate central nervous system, comprises distinct progenitor and neuronal domains, each with specific proliferation programs. In this study, we identified TMEM196, a novel transmembrane protein that plays a crucial role in regulating cell proliferation in the floor plate in chick embryos. TMEM196 is expressed in the floor plate, and its overexpression leads to reduced cell proliferation without affecting the pattern formation of the neural tube.
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