Results 201 to 210 of about 9,202 (225)

Glucocerebrosidase and parkinsonism: lessons to learn

Journal of Neurology, 2016
Both homo- (causing autosomal-recessive Gaucher's disease; GD) and heterozygous mutations in the glucocerebrosidase gene (GBA) are associated with Parkinson's disease (PD), and represent the most robust known genetic susceptibility factors identified in PD.
Ivanka, Marković, Nikola, Kresojević, Vladimir S, Kostić   +2 more
openaire   +2 more sources

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells [PDF]

Brain, 2014
Gaucher disease is caused by mutations in the glucocerebrosidase gene, which encodes the lysosomal hydrolase glucosylceramidase. Patients with Gaucher disease and heterozygous glucocerebrosidase mutation carriers are at increased risk of developing ...
Alisdair Mcneill, Joana MAGALHÃES, Chengguo Shen   +2 more
exaly   +1 more source

Molecular Properties of Lysosomal Glucocerebrosidase

1988
In Gaucher disease the membrane-associated lysosomal enzyme glucocerebrosidase is deficient (1). Three clinical phenotypes of Gaucher disease are discriminated: type 1, the adult non-neuronopathic form, type 2, the infantile neuronopathic form and type 3, the juvenile neuronopathic form (1).
van Weely, S., Aerts, J. M. F. G., van Leeuwen, M., Petersen, E. M., Goldblatt, J., Tager, J. M., Barranger, J. A., Schram, A. W.   +7 more
openaire   +2 more sources

Structural Analysis of the Human Glucocerebrosidase Genes

DNA, 1988
Two different genomic clones containing the entire coding sequence of human glucocerebrosidase were isolated from a fetal liver library using a cDNA probe previously cloned by us. These clones correspond to two human glucocerebrosidase genes, designated 6-1 and 10-2. Clone 6-1 contains sequences homologous to the cDNA we cloned previously. The promoter
O, Reiner, M, Wigderson, M, Horowitz
openaire   +2 more sources

Analysis of the glucocerebrosidase gene in Parkinson's disease

Movement Disorders, 2005
AbstractParkinson's disease (PD) is a common progressive neurodegenerative disorder characterized clinically by a combination of motor symptoms. Identifying novel PD genetic risk factors is important for understanding its pathogenesis. A recent study suggested that up to 21% of subjects with PD may have mutations in the glucocerebrosidase (GBA) gene ...
Sato, Christine, Morgan, Angharad, Lang, Anthony E., Salehi-Rad, Shabnam, Kawarai, Toshitaka, Meng, Yan, Ray, Peter N., Farrer, Lindsay A., St George-Hyslop, Peter, Rogaeva, Ekaterina   +9 more
openaire   +3 more sources

A Flow Cytometric Assay for Lysosomal Glucocerebrosidase

Analytical Biochemistry, 1997
A flow cytometric assay is described for the determination of glucocerebrosidase (GC) activity using fluorescein di-beta-glucopyranoside (FDGlu). Fluorescent product is formed upon intracellular hydrolysis of FDGlu and is measured in the FL1 channel of a flow cytometer.
H H, van Es, M, Veldwijk, M, Havenga, D, Valerio   +3 more
openaire   +2 more sources

Mammalian Glucocerebrosidase: Implications for Gaucher’s Disease

1989
More than 20 years ago Brady, Kanfer, and Shapiro and coworkers (13) and Patrick (49) identified the deficiency of glucocerebroside: β-glucosidase (glucocerebrosidase) as the cause of Gaucher’s disease, the first sphingolipidosis for which the biochemical-enzymatic basis was established.
R H, Glew, A, Basu, K L, LaMarco, E M, Prence   +3 more
openaire   +2 more sources

Glucocerebrosidase

1998
Tak W. Mak, Josef Penninger, John Roder, Janet Rossant, Mary Saunders   +4 more
openaire   +1 more source

Glucocerebrosidase Deficiency

2009
David J. Timson, Richard J. Reece, James B. Thoden, Hazel M. Holden, Andrea L. Utz, Beverly M. K. Biller, Eugen-Matthias Strehle, Markus Böhm, Thomas A. Luger, Alexander K. C. Leung, Andrew L. Wong, Markus G. Donner, Dieter Häussinger, Nirmal S. Mann, Marcus Schmitt, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Manisha Balwani, Ainu Prakash-Cheng*, Robert J. Desnick, Holger Lerche, Ingrid E. Scheffer, Samuel F. Berkovic, Brigitte M. Lobnig, Peter L. M. Jansen, Siegfried Waldegger, Florian Lang, Hugo ten Cate, Hagen Thieme, Michael Weller, Bärbel Schütte, Ronnie Fass, Hideki Kato, Masaomi Nangaku, Hideki Kato, Masaomi Nangaku, Anthony Chang, Pradeep V. Kadambi, Jessy J. Alexander, Pierre Ronco, Hanna Debiec, Christian Hugo, Brigitte M. Lobnig, Brigitte M. Lobnig, John-John B. Schnog, Victor E. A. Gerdes, Jean Francis, David S. Geller, Knut Brockmann, Dong Wang, Darryl C. Vivo, Stefan Kölker, Stefan Kölker, Elardus Erasmus, Lodewyk J. Mienie, John Vissing, Arnold Reuser, Catherine E. Correia, David A. Weinstein, Joseph I. Wolfsdorf, Yoon S. Shin, Reinout P. Hesselink, Maarten R. Drost, Anton J. M. Wagenmakers, Ger J. Vusse, Stefan Kiechl, Jonas Denecke, Ute Schepers, Thomas Kolter, Konrad Sandhoff, Dianna C. Martin, Barbara L. Triggs-Raine, Seda Sancak, Ralf Paschke, Dorin-Bogdan Borza, Sonja Ständer, Heiko Traupe, Michael A. Becker, Hanneke M. Straaten, Leo F. Verdonck, Hugo Ten Cate, Martin Mempel, Dietrich Abeck, Ismat Ghanem, Samer El Hage, Johannes G. Bode, Thomas A. Fleisher, Steven M. Holland, Bennett Myers, David Herrmann, Zaki Kraiem, Yaron Tomer, Terry F. Davies, James G. White, Sylvia Stöckler-Ipsiroglu, Guido Stoll, Klaus V. Toyka, Valéria Lamounier-Zepter, Klaus Ruether   +99 more
openaire   +1 more source

Glucocerebrosidase

Inpharma Weekly, 1991
openaire   +1 more source