Results 21 to 30 of about 154,911 (267)
Lysosomal Lipid Storage Diseases [PDF]
Cold Spring Harbor Perspectives in Biology, 2011 Lysosomal lipid storage diseases, or lipidoses, are inherited metabolic disorders in which typically lipids accumulate in cells and tissues. Complex lipids, such as glycosphingolipids, are constitutively degraded within the endolysosomal system by soluble hydrolytic enzymes with the help of lipid binding proteins in a sequential manner.
Schulze, H., Sandhoff, K.
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Lysosomal impairment in Parkinson's disease [PDF]
Movement Disorders, 2013 ABSTRACTImpairment of autophagy‐lysosomal pathways (ALPs) is increasingly regarded as a major pathogenic event in neurodegenerative diseases, including Parkinson's disease (PD). ALP alterations are observed in sporadic PD brains and in toxic and genetic rodent models of PD‐related neurodegeneration.
Dehay, Benjamin +8 more
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Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
Genetics and Molecular Biology, 2014 This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available.
Roberto Giugliani +11 more
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Orphanet Journal of Rare Diseases, 2021 Over the past three decades the lysosomal storage diseases have served as model for rare disease treatment development. While these efforts have led to considerable success, important challenges remain.
Edward H. Schuchman +2 more
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CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE [PDF]
Romanian Journal of Pediatrics, 2017 Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases.
Alina-Costina Luca, Elena Braha
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Lyso-IP: Uncovering Pathogenic Mechanisms of Lysosomal Dysfunction
Biomolecules, 2022 Lysosomes are ubiquitous membrane-bound organelles found in all eukaryotic cells. Outside of their well-known degradative function, lysosomes are integral in maintaining cellular homeostasis. Growing evidence has shown that lysosomal dysfunction plays an
Chase Chen, Ellen Sidransky, Yu Chen
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Journal of Lipid Research, 2013 Bis(monoacylglycero)phosphate (BMP) assists lysosomal function by facilitating interaction of hydrolases and activator proteins with sphingolipid substrates.
Leanne K. Hein +2 more
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Nature Reviews Disease Primers, 2018 Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These disorders are individually rare but collectively affect 1 in 5,000 live births. LSDs typically present in infancy and childhood, although adult-onset forms also occur.
Platt, F +4 more
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Molecular Therapy: Methods & Clinical Development, 2018 Antibodies against recombinant proteins can significantly reduce their effectiveness in unanticipated ways. We evaluated the humoral response of mice with the lysosomal storage disease mucopolysaccharidosis type I treated with weekly intravenous ...
Steven Q. Le +11 more
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The Emerging Role of the Lysosome in Parkinson’s Disease
Cells, 2020 Lysosomal function has a central role in maintaining neuronal homeostasis, and, accordingly, lysosomal dysfunction has been linked to neurodegeneration and particularly to Parkinson’s disease (PD).
Alba Navarro-Romero +2 more
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