Results 71 to 80 of about 4,639 (191)

Autophagic dysfunction and gut microbiota dysbiosis cause chronic immune activation in a Drosophila model of Gaucher disease.

PLoS Genetics, 2023
Mutations in the GBA1 gene cause the lysosomal storage disorder Gaucher disease (GD) and are the greatest known genetic risk factors for Parkinson's disease (PD).
Magda L Atilano, Alexander Hull, Catalina-Andreea Romila, Mirjam L Adams, Jacob Wildfire, Enric Ureña, Miranda Dyson, Jorge Ivan-Castillo-Quan, Linda Partridge, Kerri J Kinghorn   +9 more
doaj   +1 more source

α‐Synuclein Seeding Discriminates Between LRRK2 G2019S Variant Carriers with and Without Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Reliable biomarkers for Parkinson's disease (PD) pathology detection are essential for research. α‐Synuclein (aSyn) seed amplification assay (SAA) is a validated biomarker for misfolded aSyn. Objective The aim was to assess the association between aSyn SAA and LRRK2‐related PD (LRRK2‐PD) and its link to mitochondrial genetic burden.
Theresa Lüth, Carolin Gabbert, Teresa Kleinz, Christoph Much, Björn‐Hergen Laabs, Sebastian Sendel, Inke R. König, Amke Caliebe, Matthew Farrer, Brian Fiske, Cornelis Blauwendraat, Christine Klein, Joanne Trinh, Global Parkinson's Genetics Program (GP2)   +13 more
wiley   +1 more source

Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson’s disease

Translational Neurodegeneration
Parkinson’s disease (PD) is the second most common neurodegenerative disease. The development of PD is closely linked to genetic and environmental factors, with GBA1 variants being the most common genetic risk.
Xuxiang Zhang, Heng Wu, Beisha Tang, Jifeng Guo   +3 more
doaj   +1 more source

Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism

Nature Communications, 2023
GBA1 mutations cause Gaucher’s disease and are the strongest risk factor for Parkinson’s disease. Using stable cell lines and patient iPSCs, the authors show mitochondrial localization of GBA1, which may affect neurodegenerative disease risk.
Pascale Baden, Maria Jose Perez, Hariam Raji, Federico Bertoli, Stefanie Kalb, María Illescas, Fokion Spanos, Claudio Giuliano, Alessandra Maria Calogero, Marvin Oldrati, Hannah Hebestreit, Graziella Cappelletti, Kathrin Brockmann, Thomas Gasser, Anthony H. V. Schapira, Cristina Ugalde, Michela Deleidi   +16 more
doaj   +1 more source

Neuropsychiatric and Cognitive Symptom Evolution over the First Decade of Biomarker‐Positive, Sporadic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is frequently accompanied by neuropsychiatric symptoms (NPS), including cognitive impairment, which often emerge early and co‐occur. Their long‐term evolution remains incompletely characterized, particularly in biomarker‐positive cohorts.
Izabelle Schoen, Jing Wang, Sharon X. Xie, Chelsea Caspell‐Garcia, Eugenia Mamikonyan, Melanie Stark, Nabila Dahodwala, Andrew D. Siderowf, Roseanne Dobkin, Michele K. York, Daniel Weintraub   +10 more
wiley   +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

Of mice and men—The emerging oral–gut–brain axis of health and disease

Periodontology 2000, EarlyView.
Abstract Objectives Oral health's inextricable links to systemic health are highlighted by the emerging oral–gut–brain axis and other well‐known axes. There is growing evidence of a complex oral–gut–brain axis linking mouth and gut microbiomes with the central nervous system.
Yvonne L. Hernandez‐Kapila, Daniel J. Weisenberger   +1 more
wiley   +1 more source

Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells

Neurobiology of Disease, 2015
Heterozygous mutations in GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are a major risk factor for sporadic Parkinson's disease (PD).
Giulia Ambrosi, Cristina Ghezzi, Roberta Zangaglia, Giovanna Levandis, Claudio Pacchetti, Fabio Blandini   +5 more
doaj   +1 more source

The Lysosomal Clock: Are We Only as Old as Our Lysosomes?

Traffic, Volume 27, Issue 4, December 2026.
The lysosomal clock of aging. Aging is associated with lysosomal accumulation of glycerophosphodiesters (GPDs) and cystine, alongside remodeling of bis(monoacylglycero)phosphate (BMP). This conserved metabolic signature predicts chronological age, is attenuated by caloric restriction in peripheral tissues, and is prominent in brain microglia and ...
Alexis Diaz Vegas, Thierry Galli
wiley   +1 more source

Interplay of GBA1 with lysosomal dysfunction and inflammation in Parkinson’s disease

Neural Regeneration Research
Mutations in the glucocerebrosidase ( GBA1 ) gene, encoding the lysosomal enzyme glucocerebrosidase, represent the most significant genetic risk factor for Parkinson’s disease. These variants define a distinct clinical subtype characterized by earlier onset, accelerated motor decline, and ...
Ruochen Wang, Taku Hatano, Nobutaka Hattori, Davide Cossu   +3 more
openaire   +2 more sources