In the course of an investigation aimed at characterizing hepatic glucose 6-phosphatase, the unrelated acid phosphatase of rat liver was serendipitously observed to be latent and particle-bound in freshly prepared homogenates. Experiments designed to elucidate this intriguing finding led, 50 years ago, to the discovery of lysosomes. This could not have happened if strict adherence to a previously set programme had been mandatory.
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Arch Toxicol
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Department of Food Chemistry, Institute of Nutritional Science, University of Potsdam, Arthur-Scheunert-Allee 114-116, Nuthetal, 14558, Potsdam, Germany.
Copper (Cu) is an essential trace element involved in fundamental physiological processes in the human body. Even slight disturbances in the physiological Cu homeostasis are associated with the manifestation of neurodegenerative diseases. While suggesting a crucial role of Cu in the pathogenesis, the exact mechanisms of Cu neurotoxicity involved in the onset and progression of neurological diseases are far from understood.
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Ther Adv Rare Dis
September 2024
University of Colorado Boulder, Boulder, CO, USA.
Sanfilippo syndrome (Mucopolysaccharidosis Type III or MPS III) is a family of rare, lysosomal disorders characterized by progressive cognitive and motor deterioration. Even though individuals with MPS III present with complex communication needs, research regarding augmentative and alternative communication (AAC) in this population is scarce. While life expectancy for individuals with MPS IIIA typically does not exceed 20 years of age, this case report involves a 22-year-old adult with postregression MPS IIIA.
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Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London, UK.
Background And Objectives: Treatment with agalsidase alfa in patients with Fabry disease is most effective when initiated early in the disease course; however, the clinical benefits in elderly patients are less well established. This analysis assesses outcomes in patients aged 65 years or older from the Fabry Outcome Survey (FOS) who were treated with agalsidase alfa.
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Dalton Trans
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Universidad de Burgos, Departamento de Química, Facultad de Ciencias, Plaza Misael Bañuelos s/n, 09001, Burgos, Spain.
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