Results 41 to 50 of about 7,167 (179)

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

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

Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase). Parkinson's disease (PD) patients carrying a GBA1 variant (GBA‐PD) exhibit faster cognitive decline, linked to cholinergic degeneration. Objectives The aim was to investigate whether GCase activity, measured in monocytes, correlates with cognitive dysfunction or ...
Sofie Slingerland, Sygrid van der Zee, Sven C.D. van Ijzendoorn, Anne C. Slomp, Jeffrey M. Boertien, Sanne K. Meles, Arjan Kol, Marie Geerlings, Teus van Laar   +8 more
wiley   +1 more source

β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding Site [PDF]

Journal of the American Chemical Society, 2018
β-Glucocerebrosidase (GCase) mutations cause Gaucher's disease and are a high risk factor in Parkinson's disease. The implementation of a small molecule modulator is a strategy to restore proper folding and lysosome delivery of degradation-prone mutant GCase. Here, we present a potent quinazoline modulator, JZ-4109, which stabilizes wild-type and N370S
Jianbin Zheng, Long Chen, Owen S. Skinner, Daniel Ysselstein, Jonathan Remis, Peter Lansbury, Renato Skerlj, Michael Mrosek, Ursula Heunisch, Stephan Krapp, Joel Charrow, Michael Schwake, Neil L. Kelleher, Richard B. Silverman, Dimitri Krainc   +14 more
openaire   +2 more sources

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

The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis

Movement Disorders, EarlyView.
Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Irina Miliukhina, Lior Greenbaum, Sharon Hassin‐Baer, Orly Goldstein, Mandy Radefeldt, Peter Bauer, Christian Beetz, Allison A. Dilliott, James C. Beck, Konstantin Senkevich, ROPAD Study Group, The Parkinson's Foundation PD GENEration Study, Christine Klein, Roy N. Alcalay, Ziv Gan‐Or   +30 more
wiley   +1 more source

Polymorphisms in the human glucocerebrosidase gene

Genomics, 1992
The two glucocerebrosidase genes from a patient with Gaucher disease were cloned and 8850 bp of each sequenced. Each clone had a single nucleotide change accounting for the clinical glucocerebrosidase deficiency, an A to G transition at cDNA nucleotide 1226 in one clone, and an insertion of a G at cDNA nucleotide 84 in the other clone.
E, Beutler, C, West, T, Gelbart
openaire   +2 more sources

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source

Photoswitchable inhibitors of human β-glucocerebrosidase

Organic & Biomolecular Chemistry, 2022
Towards human GCase activity enhancement by means of light responsive inhibitors.
Maria Giulia Davighi, Francesca Clemente, Camilla Matassini, Francesca Cardona, Mogens Brøndsted Nielsen, Andrea Goti, Amelia Morrone, Paolo Paoli, Martina Cacciarini   +8 more
openaire   +4 more sources

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