Results 101 to 110 of about 10,389 (214)

Neurosteroid Levels in GBA Mutated and Non-Mutated Parkinson’s Disease: A Possible Factor Influencing Clinical Phenotype?

Biomolecules
Neurosteroids are pleiotropic molecules involved in various neurodegenerative diseases with neuroinflammation. We assessed neurosteroids’ serum levels in a cohort of Parkinson’s Disease (PD) patients with heterozygous glucocerebrosidase (GBA) mutations ...
Francesco Cavallieri, Chiara Lucchi, Sara Grisanti, Edoardo Monfrini, Valentina Fioravanti, Giulia Toschi, Giulia Di Rauso, Jessica Rossi, Alessio Di Fonzo, Giuseppe Biagini, Franco Valzania   +10 more
doaj   +1 more source

Studies on the turnover of glucocerebrosidase in cultured rat peritoneal macrophages and normal human fibroblasts

, 1986
The kinetics of glucocerebrosidase synthesis and degradation in rat peritoneal macrophages and in human fibroblasts have been studied using conduritol B epoxide (CBE), an irreversible and specific inhibitor of mammalian glucocerebrosidase.
Das, Pijush K., Murray, Gary J., Barranger, John A.   +2 more
core   +1 more source

Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction

Molecules
Gaucher disease (GD) is a rare genetic metabolic disorder characterized by a dysfunction of the lysosomal glycoside hydrolase glucocerebrosidase (GCase) due to mutations in the gene GBA1, leading to the cellular accumulation of glucosylceramide (GlcCer).
Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai   +10 more
doaj   +1 more source

Lectin-specific targeting of β-glucocerebrosidase to different liver cells via glycosylated liposomes

, 1985
Galactosylated and mannosylated liposomes were more efficient in transporting liposome-entrapped β-glucocerebrosidase to liver compared to nonglycosylated liposomes.
Zirzow, Gregory C., Brady, Roscoe O., Das, Pijush K., Murray, Gary J., Barranger, John A.   +4 more
core   +1 more source

Immunoelectron microscopic localization of mannose-terminal glucocerebrosidase in lysosomes of rat liver Kupffer cells.

, 1995
Knowledge of the cellular distribution and subcellular localization of mannose-terminal glucocerebrosidase after intravenous infusion is necessary for understanding the efficacy of targeted enzyme replacement therapy for Gaucher's disease.
F S Jin, G J Murray
core   +1 more source

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers

, 2012
Glucocerebrosidase (GBA) gene mutations represent a strong risk factor for Parkinson disease (PD). PD penetrance in GBA mutation carriers, which represents a key issue for genetic counseling, especially for relatives of patients with Gaucher disease (GD),
Condroyer, C, Elbaz, A, Pollak, Pierre, Lesage, S., S., Brice, A., A., Bonaïti, B, Bonaïti-Pellié, C, Bonaiti-Pellie, C., C., Lesage, S, Brice, A, Viallet, F., F., Condroyer, C., C., Elbaz, A., A., Durr, A, Viallet, F, Durr, A., A., Anheim, M, Pollak, P., P., Anheim, M., M., Bonaiti, Bernard, B.   +19 more
core   +1 more source

Case Report: Novel treatment approach for severe interstitial lung disease in type 3 Gaucher disease

Frontiers in Pediatrics
Gaucher Disease Type 3 (GD3) is a rare lysosomal storage disorder characterized by both visceral and neurological involvement. Pulmonary manifestations can significantly impact prognosis and quality of life.
Vincenza Gragnaniello, Vincenza Gragnaniello, Silvia Carraro, Tiziana Zangardi, Chiara Cazzorla, Daniela Gueraldi, Alberto B. Burlina, Alberto B. Burlina   +7 more
doaj   +1 more source

Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review

Molecular Genetics & Genomic Medicine
Gaucher disease (GD) is a lysosomal storage disorder caused by a deficiency in the GBA1‐encoded enzyme, β‐glucocerebrosidase. Enzyme replacement therapy is ineffective for neuronopathic Gaucher disease (nGD).
Kanako Higashi, Yuri Sonoda, Noriyuki Kaku, Fumihiko Fujii, Fumiya Yamashita, Sooyoung Lee, Vlad Tocan, Go Ebihara, Wakato Matsuoka, Kenichi Tetsuhara, Motoshi Sonoda, Pin Fee Chong, Yuichi Mushimoto, Kanako Kojima‐Ishii, Masataka Ishimura, Yuhki Koga, Atsuhisa Fukuta, Nana Akagi Tsuchihashi, Yoshikazu Kikuchi, Takahito Karashima, Takaaki Sawada, Taeko Hotta, Makoto Yoshimitsu, Hideyuki Terazono, Tatsuro Tajiri, Takashi Nakagawa, Yasunari Sakai, Kimitoshi Nakamura, Shouichi Ohga   +28 more
doaj   +1 more source

Process for preparing exosome loading β-glucocerebrosidase, and pharmaceutical composition for use in preventing and treating Gaucher Disease containing the same as an active ingredient

, 2020
본 발명은 GBA(β-glucocerebrosidase) 단백질을 포함하는 엑소솜(GBA:EXPLOR)을 대량으로 제조하는 방법, 상기 엑소솜 제조에 사용될 수 있는 엑소솜 제조용 벡터, 상기 방법으로 제조된 GBA(β-glucocerebrosidase) 단백질을 포함하는 엑소솜 및 이를 유효성분으로 함유하는 고셔병 치료용 약학적 조성물에 관한 것이다.
류승욱, 최철희, 최경선, 임남빈, 최호준   +4 more
core   +1 more source

Glucocerebrosidase mutations in diffuse Lewy body disease

, 2011
Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson's disease and Lewy body disorders.
Alex Rajput, Cobb, Stephanie A, Dickson, Dennis W., Zbigniew K. Wszolek, Owen A. Ross, David M.A. Mann, Mash, Deborah C., Ross, Owen A., Stephanie A. Cobb, Snowden, Julie, Mann, David M.A, Matthew J. Farrer, Wszolek, Zbigniew K., Rajesh Pahwa, Julie Snowden, Farrer, Matthew J., David Neary, Kachergus, Jennifer M, Farrer, Matthew J, Neary, David, Vilariño-Güell, Carles, Papapetropoulos, Spiridon, Christopher A. Robinson, Richardson, Anna M.T, Carles Vilariño-Güell, Lyons, Kelly E, Lyons, Kelly E., Wszolek, Zbigniew K, Spiridon Papapetropoulos, Dennis W. Dickson, Ross, Owen A, Nishioka, Kenya, Deborah C. Mash, Jennifer M. Kachergus, Cobb, Stephanie A., Robinson, Christopher A, Mash, Deborah C, Mann, David M A, Pahwa, Rajesh, Robinson, Christopher A., Richardson, Anna M T, Rajput, Alex, Kenya Nishioka, Dickson, Dennis W, Kachergus, Jennifer M., Anna M.T. Richardson, Kelly E. Lyons   +46 more
core   +1 more source