Results 111 to 120 of about 4,309 (206)

Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies [PDF]

, 2018
Mutations in the GBA gene, encoding the lysosomal hydrolase glucocerebrosidase (GCase), are the most common known genetic risk factor for Parkinson’s disease (PD) and dementia with Lewy bodies (DLB).
Beccari, T. (Tommaso), Bonifati, V. (Vincenzo), Breedveld, G.J. (Guido), Calabresi, P. (Paolo), Chiasserini, D. (Davide), Duran-Pacheco, G. (Gonzalo), Eusebi, P. (Paolo), Ingrassia, A. (Angela), Kremer, T. (Thomas), Moors, T.E. (Tim E.), Paciotti, S. (Silvia), Parnetti, L., Quadri, M. (Marialuisa), Tasegian, A. (Anna), van de Berg, W.D.J. (Wilma D. J.)   +14 more
core   +2 more sources

CRISPR Enabled Precision Oncology: From Gene Editing to Tumor Microenvironment Remodeling

Med Research, Volume 2, Issue 1, Page 106-129, March 2026.
CRISPR technology has progressed from a prokaryotic immune system to a diverse suite of editing platforms, including Cas nucleases, base and prime editors, and RNA‐targeting enzymes. These advances enable precise genomic and epigenomic interventions, high‐throughput functional screening, and immune engineering.
Kailai Li, Peixin Huang, Yue Qian, Anqi Lin, Jingjun He, Junyi Shen, Li Chen, Kai Miao, Jian Zhang   +8 more
wiley   +1 more source

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease [PDF]

, 2013
Background: Gaucher disease (GD) is the most common inherited lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1).
Beck, Michael, Breiden, Bernadette, Elstein, Deborah, Filocamo, Mirella, Gonzalez, Maria C., Hoffmann, Per, Horwitz, Mia, Karlsson, Stefan,, Lund University., Lund University., Mattheisen, Manuel, Mengel, Eugen, Niederau, Claus, Noethen, Markus M., Sandhoff, Konrad, Sandhoff, Roger, Sidransky, Ellen, vom Dahl, Stefan, Yildiz, Yildiz, Zimran, Ari   +19 more
core   +2 more sources

Expression of Recombinant Human Glucocerebrosidase Protein in Sunflowers

مجلة بغداد للعلوم, 2019
Molecular farming has become one of the most significant implementations of modern biotechnology to generate modified plant crops to produce medicinal proteins.
Al-Dallee et al.
doaj   +1 more source

Movement Disorders Presenting in Childhood. [PDF]

, 2016
PURPOSE OF REVIEW: This article provides an overview of movement disorders that present in childhood. Key clinical features are discussed, and a brief guide to management strategies is provided.
Dale, RC, Kurian, MA
core   +1 more source

Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study [PDF]

Estimates of the spectrum and frequency of pathogenic variants in Parkinson's disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial
Aasly, Jan Olav, Afshari, Mitra, Agarwal, Pinky, Aldred, Jason, Ameziane, Najim, Beetz, Christian, Bogdanovic, Xenia, Curado, Filipa, Gaber, Hanaa, Infante Ceberio, Jon, Laabs, Björn-Hergen, Olmedillas, Maria, Paul, Jefri J., Schell, Nathalie, Skobalj, Snezana, Skrahina, Volha, Usnich, Tatiana, Vollstedt, Eva-Juliane, Westenberger, Ana   +18 more
core   +4 more sources

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers

Stem Cell Reports, 2017
Numerically the most important risk factor for the development of Parkinson's disease (PD) is the presence of mutations in the glucocerebrosidase GBA1 gene.
Shi-Yu Yang, Michelle Beavan, Kai-Yin Chau, Jan-Willem Taanman, Anthony H.V. Schapira   +4 more
doaj   +1 more source

Mitochondrial dysfunction associated with glucocerebrosidase deficiency [PDF]

, 2016
The lysosomal hydrolase glucocerebrosidase (GCase) is encoded for by the GBA gene. Homozygous GBA mutations cause Gaucher disease (GD), a lysosomal storage disorder.
Gegg, ME, Schapira, AH
core  

Genetic and phenotypic characterization of Parkinson’s disease at the clinic-wide level

npj Parkinson's Disease
Observational studies in Parkinson’s disease (PD) deeply characterize relatively small numbers of participants. The Molecular Integration in Neurological Diagnosis Initiative seeks to characterize molecular and clinical features of every PD patient at ...
Thomas F. Tropea, Whitney Hartstone, Noor Amari, Dylan Baum, Jacqueline Rick, Eunran Suh, Hanwen Zhang, Rachel A. Paul, Noah Han, Rebecca Zack, Eliza M. Brody, Isabela Albuja, Justin James, Meredith Spindler, Andres Deik, Whitley W. Aamodt, Nabila Dahodwala, Ali Hamedani, Aaron Lasker, Howard Hurtig, Matthew Stern, Daniel Weintraub, Pavan Vaswani, Allison W. Willis, Andrew Siderowf, Sharon X. Xie, Vivianna Van Deerlin, Alice S. Chen-Plotkin   +27 more
doaj   +1 more source

Inhibition of cysteine protease cathepsin Lincreases the level and activity of lysosomal glucocerebrosidase

JCI Insight
The glucocerebrosidase (GCase) encoded by the GBA1 gene hydrolyzes glucosylceramide (GluCer) to ceramide and glucose in lysosomes. Homozygous or compound heterozygous GBA1 mutations cause the lysosomal storage disease Gaucher disease (GD) due to severe ...
Myung Jong Kim, Soojin Kim, Thomas Reinheckel, Dimitri Krainc   +3 more
doaj   +1 more source