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Restoration of impaired lysosomal function mitigates drusen-like deposit formation and cell death in Malattia Leventinese. [PDF]
JCI InsightInoue Y +7 more
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Genetic and molecular evidence linking CTSH to Alzheimer's disease pathophysiology. [PDF]
Alzheimers DementPicard C +7 more
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Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1969 openaire +1 more source
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The Lysosome: A Role in Disease
Annals of Internal Medicine, 1973Abstract Increasing interest in elucidating the role of the lysosome in intracellular metabolic economy has resulted in a deeper understanding of some inborn errors of metabolism, as well as a clea...
M A, Verity +4 more
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Rethinking lysosomes and lysosomal disease
Neuroscience Letters, 2021Lysosomal storage diseases were recognized and defined over a century ago as a class of disorders affecting mostly children and causing systemic disease often accompanied by major neurological consequences. Since their discovery, research focused on understanding their causes has been an important driver of our ever-expanding knowledge of cell biology ...
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Lysosomal proteomics and disease
PROTEOMICS – Clinical Applications, 2007AbstractA recent trend in proteomic studies has been to analyze macromolecular complexes such as subcellular organelles instead of complete cells or tissues. This “divide and conquer” approach circumvents some of the formidable problems associated with whole proteome analyses and allows focus on a subset of proteins that may be involved in a particular
Sleat, David E. +2 more
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Neuropathology and Applied Neurobiology, 1978
The majority of lysosomal storage diseases affect the central nervous system. Those that reflect a primary lysosomal disorder are associated with genetically determined deficiencies of specific lysosomal enzymes and storage of the relevant substrate. Autofluorescent lipopigments accumulate in the ceroid‐lipofuscinoses, a heterogeneous group of diseases
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The majority of lysosomal storage diseases affect the central nervous system. Those that reflect a primary lysosomal disorder are associated with genetically determined deficiencies of specific lysosomal enzymes and storage of the relevant substrate. Autofluorescent lipopigments accumulate in the ceroid‐lipofuscinoses, a heterogeneous group of diseases
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Current Treatment Options in Neurology, 2001
Lysosomal storage disorders (LSDs), over 40 different diseases, are now considered treatable disorders. Only a few short years ago, Lysosomal storage disorders were seen as interesting neurodegenerative disorders without any potential for treatment. Effective treatment strategies such as bone marrow transplantation (BMT), enzyme replacement therapy ...
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Lysosomal storage disorders (LSDs), over 40 different diseases, are now considered treatable disorders. Only a few short years ago, Lysosomal storage disorders were seen as interesting neurodegenerative disorders without any potential for treatment. Effective treatment strategies such as bone marrow transplantation (BMT), enzyme replacement therapy ...
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Approach to lysosomal diseases
Medicina Clínica (English Edition), 2022Miguel Ángel, Torralba Cabeza +1 more
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Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases caused by dysfunction of the lysosomal system, with subsequent progressive accumulation of macromolecules, activation of inflammatory response, and cell death. Neurologic damage is almost always present, and it is usually degenerative.
Alessandro P, Burlina +2 more
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Alessandro P, Burlina +2 more
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