Results 21 to 30 of about 41,053 (230)

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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Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations

Acta Neuropathologica Communications, 2023
Loss of function progranulin (GRN) mutations are a major autosomal dominant cause of frontotemporal dementia (FTD). Patients with FTD due to GRN mutations (FTD-GRN) develop frontotemporal lobar degeneration with TDP-43 pathology type A (FTLD-TDP type A ...
Skylar E. Davis, Anna K. Cook, Justin A. Hall, Yuliya Voskobiynyk, Nancy V. Carullo, Nicholas R. Boyle, Ahmad R. Hakim, Kristian M. Anderson, Kierra P. Hobdy, Derian A. Pugh, Charles F. Murchison, Laura J. McMeekin, Micah Simmons, Katherine A. Margolies, Rita M. Cowell, Alissa L. Nana, Salvatore Spina, Lea T. Grinberg, Bruce L. Miller, William W. Seeley, Andrew E. Arrant   +20 more
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Lysosomal Storage Diseases

Translational Science of Rare Diseases, 2016
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses,
Ferreira, Carlos R., Gahl, William A.
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Overview of Lysosomal Storage Diseases in Kurdistan Region/ Iraq

Advanced Medical Journal, 2023
Background and objectives:The lysosomal lipid storage diseases are diverse disorders each due to an inherited deficiency of a lysosomal hydrolase enzyme leading to the intralysosomal accumulation of the enzyme’s particular substrate; each catabolic step,
Chenar Omer Ali Al-Jaf, Bakir Rahim, Khalid Hama Salih, Jamal Ahmad Rasheed, Adnan Mohammed Hasan   +4 more
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Clarifying lysosomal storage diseases [PDF]

Trends in Neurosciences, 2011
Lysosomal storage diseases (LSDs) are a class of metabolic disorders caused by mutations in proteins critical for lysosomal function. Such proteins include lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins.
Mark L, Schultz, Luis, Tecedor, Michael, Chang, Beverly L, Davidson   +3 more
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Lysosomal acid lipase deficiency in a 6-year-old child: case report

Archives of the Balkan Medical Union, 2020
Introduction. Cholesteryl ester storage disease or lysosomal acid lipase deficiency is a rare severe congenital enzyme pathology of lysosomal storage disorders.
Oleksandra SHULHAI, Anna KABAKOVA, Anna-Mariia SHULHAI   +2 more
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ARE ENZYME REPLACEMENT THERAPIES EFFECTIVE AGAINST LYSOSOMAL STORAGE DISORDERS?

Gomal Journal of Medical Sciences, 2021
Lysosomal storage disorders are an agglomeration of genetic disorders such as Fabry disease, Gaucher disease, Pompe disease, Krabbe’s disease and mucopolysaccharidosis that typically impairs the prime orangs of humans, including brain, heart ...
Taimoor Hassan, Xu Huadong
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Targeting neuronal lysosomal dysfunction caused by β-glucocerebrosidase deficiency with an enzyme-based brain shuttle construct

Nature Communications, 2023
Mutations in glucocerebrosidase cause the lysosomal storage disorder Gaucher’s disease and are the most common risk factor for Parkinson’s disease. Therapies to restore the enzyme’s function in the brain hold great promise for treating the neurological ...
Alexandra Gehrlein, Vinod Udayar, Nadia Anastasi, Martino L. Morella, Iris Ruf, Doris Brugger, Sophia von der Mark, Ralf Thoma, Arne Rufer, Dominik Heer, Nina Pfahler, Anton Jochner, Jens Niewoehner, Luise Wolf, Matthias Fueth, Martin Ebeling, Roberto Villaseñor, Yanping Zhu, Matthew C. Deen, Xiaoyang Shan, Zahra Ehsaei, Verdon Taylor, Ellen Sidransky, David J. Vocadlo, Per-Ola Freskgård, Ravi Jagasia   +25 more
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Lysosomal Storage Diseases-Regulating Neurodegeneration [PDF]

Journal of Experimental Neuroscience, 2015
Autophagy is a complex pathway regulated by numerous signaling events that recycles macromolecules and can be perturbed in lysosomal storage diseases (LSDs). The concept of LSDs, which are characterized by aberrant, excessive storage of cellular material in lysosomes, developed following the discovery of an enzyme deficiency as the cause of Pompe ...
Rob U. Onyenwoke, Jay E. Brenman
openaire   +4 more sources

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage[S]

Journal of Lipid Research, 2011
A central feature of Niemann-Pick Type C (NPC) disease is sequestration of cholesterol and glycosphingolipids in lysosomes. A large phenotypic variability, on both a clinical as well as a molecular level, challenges NPC diagnosis.
Carolina Tängemo, Dominik Weber, Susanne Theiss, Eugen Mengel, Heiko Runz   +4 more
doaj   +1 more source