Results 91 to 100 of about 940,251 (149)

Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand β-glucocerebrosidase

, 2009
Blanz J, Groth J, Zachos C, Wehling C, Saftig P, Schwake M. Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand β-glucocerebrosidase. Human Molecular Genetics. 2010;19(4):563-
Groth, Johann, Blanz, Judith, Saftig, Paul, Zachos, Christina, Schwake, Michael ; https://orcid.org/, Wehling, Christina, Paul Saftig, Judith Blanz, Johann Groth, Michael Schwake, Christina Zachos, Christina Wehling   +11 more
core   +1 more source

Targeted Enzymatic VLP-Nanoreactors with β-Glucocerebrosidase Activity as Potential Enzyme Replacement Therapy for Gaucher's Disease. [PDF]

ChemMedChem, 2022
Chauhan K, Olivares-Medina CN, Villagrana-Escareño MV, Juárez-Moreno K, Cadena-Nava RD, Rodríguez-Hernández AG, Vazquez-Duhalt R.   +6 more
europepmc   +1 more source

Exploring substituent diversity on pyrrolidine-aryltriazole iminosugars: Structural basis of β-glucocerebrosidase inhibition

, 2019
The synthesis of a library of pyrrolidine-aryltriazole hybrids through CuAAC between two epimeric dihydroxylated azidomethylpyrrolidines and differently substituted phenylacetylenes is reported.
Kubo, Moemi, Lieberman, Raquel L., Ide, Daisuke, Moreno Vargas, Antonio José, Martínez Bailén, Macarena, Robina Ramírez, Inmaculada, Carmona Asenjo, Ana Teresa, Kato, Atsushi, Patterson-Orazem, Athéna C.   +8 more
core   +1 more source

Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson's Disease. [PDF]

Int J Mol Sci, 2023
Kopytova AE, Rychkov GN, Cheblokov AA, Grigor'eva EV, Nikolaev MA, Yarkova ES, Sorogina DA, Ibatullin FM, Baydakova GV, Izyumchenko AD, Bogdanova DA, Boitsov VM, Rybakov AV, Miliukhina IV, Bezrukikh VA, Salogub GN, Zakharova EY, Pchelina SN, Emelyanov AK.   +18 more
europepmc   +1 more source

The L-enantiomers of D-sugar-mimicking iminosugars are noncompetitive inhibitors of D-glycohydrolase?

, 2016
1,4-Dideoxy-1,4-imino-l-arabinitol (l-AB1) and 2,5-dideoxy-2,5-imino-l- mannitol (l-DMDP) are much more potent inhibitors of isomaltase than their d-enantiomers.

core   +1 more source

GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region

Clinical Parkinsonism & Related Disorders
Introduction: heterozygous mutations in the glucocerebrosidase gene (GBA1), encoding the lysosomal enzyme β-glucocerebrosidase (GCase) are the most common genetic risk factor for Parkinson’s disease (PD).
Rodolfo Tonin, Silvia Ramat, Marina Rinaldi, Silvia Falliano, Federica Feo, Francesca Cardona, Camilla Matassini, Guido Mannaioni, Giulia Grigioni, Luca Caremani, Alessandra Govoni, Maria Luisa Della Bona, Giancarlo la Marca, Renzo Guerrini, Amelia Morrone   +14 more
doaj   +1 more source

Misfolded GBA/β-glucocerebrosidase impairs ER-quality control by chaperone-mediated autophagy in Parkinson disease. [PDF]

Autophagy, 2022
Kuo SH, Tasset I, Cuervo AM, Sulzer D.
europepmc   +1 more source

Velaglucerase alfa for Gaucher disease in Japan: Long-term post-marketing surveillance data from a unique population with high rates of neuronopathic subtypes

Molecular Genetics and Metabolism Reports
Gaucher disease (GD) is a rare, autosomal recessive disease with reduced β-glucocerebrosidase activity, leading to symptoms including hepatosplenomegaly, anemia, thrombocytopenia, and bone disease.
Miyako Hoshino, Kei Murayama, Hiroyuki Ida, Erika Asano, Hiromichi Otaka   +4 more
doaj   +1 more source

Children with atopic dermatitis show increased activity of β-glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu. [PDF]

Br J Dermatol, 2022
Kezic S, McAleer MA, Jakasa I, Goorden SMI, der Vlugt KG, Beers-Stet FS, Meijer J, Roelofsen J, Nieman MM, van Kuilenburg ABP, Irvine AD.   +10 more
europepmc   +1 more source

Cerebrospinal fluid lysosomal enzymes and α-synuclein in Parkinson's disease.

, 2014
To assess the discriminating power of multiple cerebrospinal fluid (CSF) biomarkers for Parkinson's disease (PD), we measured several proteins playing an important role in the disease pathogenesis.
El Agnaf O, Paciotti S, TAMBASCO, Nicola, Qureshi MM, CHIASSERINI, DAVIDE, CALABRESI, PAOLO, Bonanni L, DE CARLO, CLAUDIA, BECCARI, Tommaso, EUSEBI, PAOLO, CASTRIOTO, ANNA, Bembi B, PARNETTI, Lucilla, Deganuto M, Varghese S, ROSSI, Aroldo, Dardis A, Balducci C, Onofrj M, Persichetti E   +19 more
core   +1 more source