Results 11 to 20 of about 6,268,347 (286)

Lysosomal Storage Disease [PDF]

Journal of Nepal Medical Association, 2009
We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in all four limbs with hyper-refl exia.
Binod Khatiwada, A Pokharel
doaj   +6 more sources

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   +5 more sources

Lysosomal Storage Diseases [PDF]

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.
openaire   +4 more sources

Nanoreporter Identifies Lysosomal Storage Disease Lipid Accumulation Intracranially. [PDF]

Nano Lett, 2023
Dysregulated lipid metabolism contributes to neurodegenerative pathologies and neurological decline in lysosomal storage disorders as well as more common neurodegenerative diseases. Niemann–Pick type A (NPA) is a fatal neurodegenerative lysosomal storage
Antman-Passig M, Yaari Z, Goerzen D, Parikh R, Chatman S, Komer LE, Chen C, Grabarnik E, Mathieu M, Haimovitz-Friedman A, Heller DA.   +10 more
europepmc   +3 more sources

Lysosomal storage disease overview. [PDF]

Ann Transl Med, 2018
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation ...
Sun A.
europepmc   +4 more sources

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease [PDF]

, 2017
Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with ...
Jankovic, Joseph, Hu, Michele, Heutink, Peter, (Ipdgc),, International Parkinson’S Disease Genomics Consortium, Shulman, Joshua M., Uitterlinden, Andre, Jansen, IE, Shulman, Joshua, Heutink, P., Jansen, I.E., Jankovic, J., Jansen, Iris E., Van Rooij, Jeroen, Morrison, Karen, (IPDGC), International Parkinson's Disease Genomics Consortium, Uitterlinden, André; id_orcid, Robak, LA, Rooij, J. van, Kraaij, R, Morrison, Karen; id_orcid, Hu, M, Jansen, Iris, Robak, L.A., Heutink, P, Robak, Laurie, Shulman, J.M., Uitterlinden, AG, Kraaij, Robert, International Parkinson's Disease Genomics Consortium (IPDGC), Uitterlinden, André G., IPDGC, Shulman, JM, Kraaij, Robert; id_orcid, Jankovic, J, Uitterlinden, A.G., Kraaij, R., Robak, Laurie A., van Rooij, J   +37 more
core   +4 more sources

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
doaj   +1 more source

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
doaj   +1 more source

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.
openaire   +2 more sources

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
doaj   +1 more source