Results 91 to 100 of about 90,357 (220)

Perturbed cholesterol and vesicular trafficking associated with dengue blocking in Wolbachia-infected Aedes aegypti cells [PDF]

, 2017
Wolbachia are intracellular maternally inherited bacteria that can spread through insect populations and block virus transmission by mosquitoes, providing an important approach to dengue control.
Ant, Thomas H., Charles, Philip D., Dowle, Adam A., Geoghegan, Vincent, Hester, Svenja, Larson, Tony, Rainey, Stephanie M., Sinkins, Steven P., Stainton, Kirsty, Thomas, Benjamin   +9 more
core   +3 more sources

Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots

International Journal of Neonatal Screening, 2018
All worldwide newborn screening (NBS) for lysosomal storage diseases (LSDs) is performed as a first-tier test by measurement of lysosomal enzymatic activities in dried blood spots (DBS).
M. Gelb, Z. Lukács, E. Ranieri, P. Schielen   +3 more
semanticscholar   +1 more source

Sphingolipids and neuronal degeneration in lysosomal storage disorders

Journal of Neurochemistry, 2018
Ceramide, sphingomyelin, and glycosphingolipids (both neutral and acidic) are characterized by the presence in the lipid moiety of an aliphatic base known as sphingosine. Altogether, they are called sphingolipids and are particularly abundant in neuronal
Sara Grassi, E. Chiricozzi, L. Mauri, S. Sonnino, A. Prinetti   +4 more
semanticscholar   +1 more source

Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region

مجلة الكوفة الطبية
Background and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
doaj   +1 more source

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. [PDF]

, 2019
BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Eisengart, Julie B., Lund, Troy C., Miller, Weston P., Orchard, Paul J., Patterson, Marc C., Pollard, Laura, Renaud, Deborah L., Simmons, Katrina, Wenger, David A.   +8 more
core   +1 more source

Glutamate induces autophagy via the two-pore channels in neural cells [PDF]

, 2016
NAADP (nicotinic acid adenine dinucleotide phosphate) has been proposed as a second messenger for glutamate in neuronal and glial cells via the activation of the lysosomal Ca2+ channels TPC1 and TPC2.
 , ,, Antonioli, M, Bincoletto, C, Fimia, G, Hirata, H, Nascimento, A, Pereira, G, Piacentini, M, Smaili, S, Ureshino, R, Vescovo, T   +11 more
core   +4 more sources

Quality Control Gone Wrong: Mitochondria, Lysosomal Storage Disorders and Neurodegeneration. [PDF]

, 2013
The eukaryotic cell possesses specialized pathways to turnover and degrade redundant proteins and organelles. Each pathway is unique and responsible for degradation of distinctive cytosolic material.
Duchen, MR, Osellame, LD
core   +1 more source

Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy [PDF]

, 2017
Impairment of peripheral nerve function is frequent in neurometabolic diseases, but mechanistically not well understood. Here, we report a novel disease mechanism and the finding that glial lipid metabolism is critical for axon function, independent of ...
Asadollahi, Ebrahim, Baes, Myriam, Blanz, Judith, Brügger, Britta, de Hoz, Livia, Kassmann, Celia Michèle, Kleinecke, Sandra, Kungl, Theresa, Lüchtenborg, Christian, McGonigal, Rhona, Möbius, Wiebke, Naseri, Kobra, Nave, Klaus-Armin, Quintes, Susanne, Richert, Sarah, Sachsenheimer, Timo, Sereda, Michael W., Willison, Hugh   +17 more
core   +3 more sources

Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I

Journal of Inherited Metabolic Disease, 2017
Lysosomal storage diseases (LSDs) are rare inherited metabolic disorders characterized by a dysfunction in lysosomes, leading to waste material accumulation and severe organ damage. Enzyme replacement therapy (ERT) and haematopoietic stem cell transplant
Rachele Penati, F. Fumagalli, Valeria Calbi, M. Bernardo, A. Aiuti   +4 more
semanticscholar   +1 more source

Small Molecules

Journal of Inborn Errors of Metabolism and Screening, 2016
Lysosomal storage disorders are rare genetic disorders due to deficient lysosomal activity, which leads to progressive accumulation of nonmetabolized substrates.
Saida Ortolano PhD
doaj   +1 more source