Results 21 to 30 of about 14,130 (212)

Glucocerebrosidase and its relevance to Parkinson disease

Molecular Neurodegeneration, 2019
Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are among the most common known genetic risk factors for the development of Parkinson disease and related synucleinopathies.
Jenny Do, Cindy McKinney, Pankaj Sharma, Ellen Sidransky   +3 more
doaj   +1 more source

Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease

Frontiers in Neurology, 2022
Variants in the GBA1 and LRRK2 genes are the most common genetic risk factors associated with Parkinson disease (PD). Both genes are associated with lysosomal and autophagic pathways, with the GBA1 gene encoding for the lysosomal enzyme ...
Laura J. Smith, Laura J. Smith, Chiao-Yin Lee, Chiao-Yin Lee, Elisa Menozzi, Elisa Menozzi, Anthony H. V. Schapira, Anthony H. V. Schapira   +7 more
doaj   +1 more source

Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis? [PDF]

, 2018
Background: Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting in a misdiagnosis.
Cardarelli, L, Foà, R, Giona, F, Mariani, S, Palumbo, G, Santopietro, M   +5 more
core   +1 more source

Isofagomine Induced Stabilization of Glucocerebrosidase [PDF]

ChemBioChem, 2008
AbstractStructurally destabilizing mutations in acid β‐glucosidase (GCase) can result in Gaucher disease (GD). The iminosugar isofagomine (IFG), a competitive inhibitor and a potential pharmacological chaperone of GCase, is currently undergoing clinical evaluation for the treatment of GD.
Gregory J, Kornhaber, Michael B, Tropak, Gustavo H, Maegawa, Steven J, Tuske, Stephen J, Coales, Don J, Mahuran, Yoshitomo, Hamuro   +6 more
openaire   +2 more sources

Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene [PDF]

, 2019
Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases.
Amaral, Olga, Bragança, José, Duarte, Ana Joana, Moreira, Luciana, Ribeiro, Diogo, Santos, Renato   +5 more
core   +2 more sources

Cerebrospinal fluid β-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies

Neurobiology of Disease, 2009
The autophagy–lysosomal degradation pathway plays a role in the onset and progression of neurodegenerative diseases. Clinical and genetic studies indicate that mutations of β-glucocerebrosidase represent genetic risk factors for synucleinopathies ...
L. Parnetti, C. Balducci, L. Pierguidi, C. De Carlo, M. Peducci, C. D'Amore, C. Padiglioni, S. Mastrocola, E. Persichetti, S. Paciotti, G. Bellomo, N. Tambasco, A. Rossi, T. Beccari, P. Calabresi   +14 more
doaj   +1 more source

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients [PDF]

, 2013
Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as
A Zimran, AC Vedder, Ales Dudesek, Andrea Dardis, Anja Röhle, Anne-Katrin Giese, Ari Zimran, Arndt Rolfs, B Rosengren, C Auray-Blais, CE Hollak, CE Hollak, CE Metz, Daniel Mascher, Deborah Elstein, E Lloyd-Evans, E Schutyser, E Schutyser, ER Delong, GM Pastores, Hermann Mascher, I Kurt, I Maire, J Wittmann, Jan Lukas, JE Groener, JE Groener, JM Aerts, K Nakamura, KL Chang, L van Dussen, Matthias Wittstock, MH Zweig, N Dekker, O Nilsson, OA Bodamer, PJ Orchard, PJ Seeman, Rayk Hübner, RG Boot, RY Wang, S Atsumi, S Aviner, S Struyf, T Taketomi, Tobias Böttcher, U Finckh, Ulrike Grittner, Uta Gölnitz, Wolfgang Meyer, XY Mao, Y Sun   +51 more
core   +7 more sources

Engineering of GlcNAc-1-phosphotransferase for production of highly phosphorylated lysosomal enzymes for enzyme replacement therapy [PDF]

, 2017
Several lysosomal enzymes currently used for enzyme replacement therapy in patients with lysosomal storage diseases contain very low levels of mannose 6-phosphate, limiting their uptake via mannose 6-phosphate receptors on the surface of the deficient ...
Doray, Balraj, Kornfeld, Stuart, Lee, Wang-Sik, Liu, Lin   +3 more
core   +3 more sources

Cytosolic Glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease [PDF]

, 2019
A new paradigm for Niemann-Pick C disease is presented where lysosomal storage leads to a deficit in cytoplasmic glucosylceramide (GlcCer) where it performs important functions.
Bhardwaj, Meenakshi, Haberkant, Per, Schmid, Ralf, Sillence, Daniel J., Tongue, Paige, Wheeler, S.   +5 more
core   +1 more source

The Spectrum of Neurological Manifestations Associated with Gaucher Disease

Diseases, 2017
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral ...
Tamanna Roshan Lal, Ellen Sidransky
doaj   +1 more source