Results 51 to 60 of about 9,202 (225)

Stabilization of Glucocerebrosidase by Active Site Occupancy [PDF]

ACS Chemical Biology, 2017
Glucocerebrosidase (GBA) is a lysosomal β-glucosidase that degrades glucosylceramide. Its deficiency results in Gaucher disease (GD). We examined the effects of active site occupancy of GBA on its structural stability. For this, we made use of cyclophellitol-derived activity-based probes (ABPs) that bind irreversibly to the catalytic nucleophile (E340),
Ben Bdira, F., Kallemeijn, W.W., Oussoren, S.V., Scheij, S., Bleijlevens, B., Florea, B.I., Roomen, C.P.A.A. van, Ottenhoff, R., Kooten, M.J.F.M. van, Walvoort, M.T.C., Witte, M.D., Boot, R.G., Ubbink, M., Overkleeft, H.S., Aerts, J.M.F.G.   +14 more
openaire   +6 more sources

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice

Molecular Neurodegeneration
Background Mutations in the β-glucocerebrosidase (GBA1) gene do cause the lysosomal storage Gaucher disease (GD) and are among the most frequent genetic risk factors for Parkinson’s disease (PD).
Ilaria Gregorio, Loris Russo, Enrica Torretta, Pietro Barbacini, Gabriella Contarini, Giada Pacinelli, Dario Bizzotto, Manuela Moriggi, Paola Braghetta, Francesco Papaleo, Cecilia Gelfi, Enrico Moro, Matilde Cescon   +12 more
doaj   +1 more source

Genetic and Pathological Testing Attitudes for Parkinson's Disease in At‐Risk Relatives

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is increasingly recognized as a neurodegenerative disorder with a broad clinical spectrum and diverse biomarkers enabling early detection. α‐synuclein seed amplification assays (SAA) and genetic testing now allow identification of PD pathology in asymptomatic individuals.
Tal Weil, Anat Mirelman, Roy N. Alcalay, Nurit Omer, Penina Ponger, Avner Thaler   +5 more
wiley   +1 more source

Gaucher’s Disease – current state of knowledge and future perspectives?

Journal of Education, Health and Sport
Introduction and purpose: Gaucher's Disease (GD), a rare genetic disorder, is a difficult challenge in genetic and metabolic disorders. The aim of this review is to provide an exploration of GD, spanning its pathophysiology to the latest advancements in
Katarzyna Szymańska, Julia Krasnoborska, Sylwia Samojedny, Maciej Superson, Katarzyna Szmyt, Kamil Walczak, Klaudia Wilk-Trytko, Łukasz Zarębski   +7 more
doaj   +1 more source

Alzheimer's Biomarkers and Visuospatial Cognition in Parkinson's Disease: Modification by α‐Synuclein and Mediation of Age Effects

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Visuospatial deficits in Parkinson's disease (PD) often precede dementia and complicate daily functioning. Alzheimer's disease (AD) pathology and α‐synuclein aggregation frequently co‐occur in PD, but their combined impact on cognition is unclear.
David Ledingham, Sahana Sathyanarayana, Charlotte B. Stewart, Robyn Iredale, Victoria Foster, Debra Galley, Meher Lad, Mark R. Baker, Nicola Pavese   +8 more
wiley   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Ambroxol effects in glucocerebrosidase and -synuclein transgenic mice [PDF]

, 2016
Objective. Gaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase.
Schapira, AHV, Daly, L, Migdalska-Richards, A, Bezard, E   +3 more
core  

Overexpression of human glucocerebrosidase containing different-sized leaders

, 1996
Gaucher disease results from impaired activity of the lysosomal enzyme glucocerebrosidase. Aiming at overexpressing the human glucocerebrosidase and testing the efficiency of the two in-frame ATGs of its gene in directing synthesis of an active enzyme ...
Gatt, S., Elroy-Stein, O., Pasmanik-Chor, M., Horowitz, M., Aerts, H., Agmon, V.   +5 more
core   +1 more source

Gaucher’s Disease (the Modern View on the Problem)

Gastroenterologìa, 2015
The article presents a literature review of the most common lysosomal storage diseases — Gaucher’s disease. This pathology is caused by a inherited deficiency in glucocerebrosidase that cleaves cerebrosides.
V.B. Yagmur
doaj   +1 more source