Results 21 to 30 of about 8,108 (242)

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   +3 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

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
openaire   +2 more sources

Mitochondria and quality control defects in a mouse model of Gaucher Disease-links to Parkinson's Disease [PDF]

, 2013
Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD).
Duchen, Michael R., Gegg, ME, Osellame, LD, Gegg, Matthew E., Osellame, Laura D., Richard-Londt, A, Hargreaves, Iain P., Brandner, Sebastian, Brandner, S, Richard-Londt, Angela, Waddington, Simon N., Hargreaves, IP, Waddington, SN, Schapira, AHV, Rahim, AA, Rahim, Ahad A., Duchen, MR, Schapira, AH, Schapira, Anthony H.V.   +18 more
core   +1 more source

Astrocytes and lysosomal storage diseases [PDF]

Neuroscience, 2016
Lysosomal storage diseases (LSDs) encompass a wide range of disorders characterized by inborn errors of lysosomal function. The majority of LSDs result from genetic defects in lysosomal enzymes, although some arise from mutations in lysosomal proteins that lack known enzymatic activity.
K V, Rama Rao, T, Kielian
openaire   +2 more sources

The Heart in Fabry Disease: Mechanisms Beyond Storage and Forthcoming Therapies

Reviews in Cardiovascular Medicine, 2022
In patients with Fabry disease (FD), cardiovascular involvement is the main cause of death and reduction of quality of life. Left ventricular hypertrophy mimicking hypertrophic cardiomyopathy is the main feature of FD cardiac involvement although ...
Maurizio Pieroni, Michele Ciabatti, Francesca Graziani, Antonia Camporeale, Elisa Saletti, Rosa Lillo, Stefano Figliozzi, Leonardo Bolognese   +7 more
doaj   +1 more source

Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease

Cell Structure and Function, 2023
Gaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes ...
Asuka Hamamoto, Natsuki Kita, Siddabasave Gowda B. Gowda, Hiroyuki Takatsu, Kazuhisa Nakayama, Makoto Arita, Shu-Ping Hui, Hye-Won Shin   +7 more
doaj   +1 more source

Achievements and beyond: Scientific trajectory of Professor Mohammad A. Rafi [PDF]

BioImpacts, 2021
This biography highlights the scientific trajectory of Professor Mohammad A. Rafi, Ph.D., who, in particular, has greatly advanced the field of neurodegenerative disorders during his long and successful tenure at Jefferson Medical College, Thomas ...
Yadollah Omidi, Abass Alavi
doaj   +1 more source

Exacerbating and reversing lysosomal storage diseases: from yeast to humans [PDF]

, 2017
Lysosomal storage diseases (LSDs) arise from monogenic deficiencies in lysosomal proteins and pathways and are characterized by a tissue-wide accumulation of a vast variety of macromolecules, normally specific to each genetic lesion.
Tamayanthi Rajakumar, Andrew B. Munkacsi, Stephen L. Sturley   +2 more
core   +1 more source

Characterization and downstream mannose phosphorylation of human recombinant α-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds [PDF]

, 2013
This work was supported by a Wellcome Trust award to TMG.Mucopolysaccharidosis (MPS) I is a lysosomal storage disease caused by a deficiency of α-L-iduronidase (IDUA) (EC 3.2.1.76); enzyme replacement therapy is the conventional treatment for this ...
Brooks, Doug, Gloster, Tracey M., Vocadlo, D.J., Brooks, D., Kolarich, Daniel, Kermode, Allison R, Kermode, Allison R., Haselhorst, T., Qian, Y., Gloster, Tracey M, Qian, Yi, Gloster, Tracey, Kolarich, D., Haselhorst, Thomas, Packer, N.H., Pierce, Owen, He, X., von Itzstein, Mark, Gloster, T.M., Packer, Nicolle H., He, Xu, Pierce, O., Packer, Nicolle H, Vocadlo, David J, von Itzstein, M., Kermode, A.R., Vocadlo, David J.   +26 more
core   +1 more source