Results 51 to 60 of about 2,486,172 (179)

Differentiation of norm and pathology during selective biochemical skreening of lysosomal storage diseases with increased excretion of oligosaccharides [PDF]

The Ukrainian Biochemical Journal, 2015
Oligosaccharides are a class of polymeric carbohydrates, which are constituents of a glycoside portion of glycoprotein and glycolipid molecules. The lysosomal hydrolase dysfunction due to lysosomal storage disorders results in partial or complete failure
N. Y. Mytsyk, N. V. Olkhovych, N. G. Gorovenko   +2 more
doaj   +1 more source

Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy

Nature Communications, 2021
Mucopolysaccharidosis type IVA (MPSIVA) is a lysosomal storage disorder causing severe skeletal and non-skeletal alterations in patients. Here, the authors generate a MPSIVA rat model that mimics the disabling human pathology and develop an AAV9-Galns ...
Joan Bertolin, Víctor Sánchez, Albert Ribera, Maria Luisa Jaén, Miquel Garcia, Anna Pujol, Xavier Sánchez, Sergio Muñoz, Sara Marcó, Jennifer Pérez, Gemma Elias, Xavier León, Carles Roca, Veronica Jimenez, Pedro Otaegui, Francisca Mulero, Marc Navarro, Jesús Ruberte, Fatima Bosch   +18 more
doaj   +1 more source

Recent advances in gene therapy for lysosomal storage disorders [PDF]

, 2015
David PW Rastall,1 Andrea Amalfitano1,2 1Department of Microbiology and Molecular Genetics, 2Department of Pediatrics, College of Osteopathic Medicine, Michigan State University, East Lansing, MI, USA Abstract: Lysosomal storage disorders (LSDs) are a ...
Amalfitano A, Rastall DP
core  

Reprogramming of lysosomal gene expression by interleukin-4 and Stat6. [PDF]

, 2013
BACKGROUND: Lysosomes play important roles in multiple aspects of physiology, but the problem of how the transcription of lysosomal genes is coordinated remains incompletely understood.
Meira, LB, Czimmerer, Z, Louise M Brignull, Hafida Saidi, Saidi, H, Bartlett, Nathan W., Bence Daniel, Nagy, László, Villela, Izabel, Nohturfft, A, Brignull, LM, Izabel Villela, Johnston, Sebastian L., Meira, Lisiane B., Villela, I, Axel Nohturfft, Nohturfft, Axel, Zsolt Czimmerer, Brignull, L. M., Nathan W Bartlett, Saidi, H., Dániel, Bence, Czimmerer, Zsolt, Daniel, B, Lisiane B Meira, Saidi, Hafida, Brignull, Louise M., Nagy, L, Villela, I., Laszlo Nagy, Bartlett, NW, Johnston, SL, Sebastian L Johnston   +32 more
core   +1 more source

Lysosomal storage disease : revealing lysosomal function and physiology

, 2010
The discovery over five decades ago of the lysosome, as a degradative organelle and its dysfunction in lysosomal storage disorder patients, was both insightful and simple in concept.
Parkinson-Lawrence, E., Borlace, G., Prodoehl, M., Shandala, T., Plew, R., Brooks, D.   +5 more
core   +1 more source

Acetyl-leucine slows disease progression in lysosomal storage disorders [PDF]

, 2020
Acetyl-DL-leucine is a derivative of the branched chain amino acid leucine. In observational clinical studies acetyl-DL-leucine improved symptoms of ataxia, in particular in patients with the lysosomal storage disorder, Niemann-Pick disease type C1. Here,
Cortina-Borja, M, Karl J Morten (16281605), Fineran, Paul, Smith, C, Spencer, John, Smith, De, Barry Boland (2011333), Platt, FM, Kaya, Ecem, Lauren Morris (2577274), Joanna Poulton (81462), Mario Cortina-Borja (130639), Smith, Claire, Brémovà-Ertl, Tatiana, Boland, Barry, Strupp, M, Strupp, Ml, Strupp, Michael, Spencer, J, Kaya, E, Boland, B, Morten, Karl J, Claire Smith (528058), Tatiana Bremova-Ertl (5639939), David A Smith (14591504), Ecem Kaya (9416438), Smith, DA, John Spencer (4461472), Bremova-Ertl, T, Poulton, Joanna, Paul Fineran (5639921), Morris, L, Platt, F, Cortina-Borja, Mario, Smith, David A, Poulton, J, Morris, Lauren, Frances M Platt (16212410), Platt, Frances M, Fineran, P, Morten, Kj, Michael Strupp (318710)   +41 more
core   +2 more sources

A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder

, 2014
Sulfatases are key enzymatic regulators of sulfate homeostasis with several biological functions including degradation of glycosaminoglycans (GAGs) and other macromolecules in lysosomes.
Di Malta, Chiara, Ballabio, Andrea, Lund, Anders H., Wen, Jiayu, Eskelinen, Eeva-Liisa, Frankel, Lisa B   +5 more
core   +2 more sources

Mechanism of action of FDA approved small molecules (*) and small molecules in development, intended to treat a lysosomal storage disorder.

, 2020
Mechanism of action of FDA approved small molecules (*) and small molecules in development, intended to treat a lysosomal storage disorder.
Sven F. Garbade (3700849), Konstantin Mechler (8690346), Georg F. Hoffmann (8690349), Eugen Mengel (670324), Matthias Zielonka (618181), Markus Ries (213093), Stefan Kölker (757092), Christian Staufner (8690352)   +7 more
core   +1 more source

The cell biology of lysosomal storage disorders [PDF]

, 2004
Lysosomal storage disorders, of which more than 40 are known, are caused by the defective activity of lysosomal proteins, which results in the intra-lysosomal accumulation of undegraded metabolites.
Futerman, A.H., van Meer, G., Membraan enzymologie, Anthony H. Futerman, Membrane Enzymlogy 1, Gerrit van Meer, Dep Scheikunde   +6 more
core   +1 more source

Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder

, 2003
Lysosomal storage disorders are collectively important because they cause significant morbidity and mortality. Patients can present with severe symptoms that include somatic tissue and bone pathology, developmental delay and neurological impairment ...
Kakavanos, R., Hopwood, J., Brooks, D.
core   +1 more source