Design and Synthesis of Potent Quinazolines as Selective β-Glucocerebrosidase Modulators. [PDF]
J Med Chem, 2016 Zheng J, Chen L, Schwake M, Silverman RB, Krainc D. Design and Synthesis of Potent Quinazolines as Selective β-Glucocerebrosidase Modulators. Journal of Medicinal Chemistry.
Zheng J +4 more
europepmc +3 more sources
Photoswitchable inhibitors of human β-glucocerebrosidase [PDF]
, 2022 Light-switchable inhibitors of the enzyme β-glucocerebrosidase (GCase) have been developed by anchoring a specific azasugar to a dihydroazulene or an azobenzene responsive moiety.
Davighi, Maria Giulia +17 more
core +1 more source
Morbus gaucher: A report of two cases [PDF]
Vojnosanitetski Pregled, 2006 Backround. Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918).
Đokić Milomir
doaj +1 more source
Factors influencing the measurement of lysosomal enzymes activity in human cerebrospinal fluid. [PDF]
PLoS ONE, 2014 Measurements of the activities of lysosomal enzymes in cerebrospinal fluid have recently been proposed as putative biomarkers for Parkinson's disease and other synucleinopathies.
Emanuele Persichetti +11 more
doaj +1 more source
Biomedicine Hub, 2021 Introduction: Multiple myeloma (MM) is an incurable, biologically heterogeneous disease of the plasma cells, associated with older age and is more common in men.
Wei-De Lin, Fuu-Jen Tsai
doaj +1 more source
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 +14 more
doaj +1 more source
GAU-PED study for early diagnosis of Gaucher disease in children with splenomegaly and cytopenia
Orphanet Journal of Rare Diseases, 2023 Background Gaucher disease (GD) diagnosis can be delayed due to non-specific symptoms and lack of awareness, leading to unnecessary procedures and irreversible complications.
Andrea Pession +20 more
doaj +1 more source
Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells. [PDF]
PLoS ONE, 2013 To date, a plethora of studies have provided evidence favoring an association between Gaucher disease (GD) and Parkinson's disease (PD). GD, the most common lysosomal storage disorder, results from the diminished activity of the lysosomal enzyme β ...
Georgia Dermentzaki +4 more
doaj +1 more source
N-Guanidino Derivatives of 1,5-Dideoxy-1,5-imino-d-xylitol are Potent, Selective, and Stable Inhibitors of β-Glucocerebrosidase [PDF]
, 2017 A series of lipidated guanidino and urea derivatives of 1,5-dideoxy-1,5-imino-d-xylitol were prepared from d-xylose using a concise synthetic protocol.
Afd Chemical Biology and Drug Discovery +25 more
core +1 more source
Neurobiology of Disease, 2016 Gaucher disease arises from mutations in the β-glucocerebrosidase gene which encodes an enzyme required for the lysosomal catabolism of glucosylceramide.
Litsa Karageorgos +9 more
doaj +1 more source