Results 61 to 70 of about 3,074 (177)

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

Rare‐Variant Burden Analysis of Dystonia Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. Objective The aim was to examine whether rare variants in dystonia‐related genes are associated with PD or early‐onset PD (EOPD).
Sajanth Kanagasingam, Sitki Cem Parlar, Lang Liu, Ziv Gan‐Or, Konstantin Senkevich   +4 more
wiley   +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

Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease

American Journal of Hematology, Volume 101, Issue 9, Page 2197-2213, September 2026.
ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain, Noffar Bar, Lilu Guo, Katherine Klinger, Punita Gupta, Atta Ur Rahman, Ruhua Yang, Yanhong Deng, Natalia Neparidze, Shiny Nair, Pramod K. Mistry   +10 more
wiley   +1 more source

Associations of cholinergic system integrity with cognitive decline in GBA1 and LRRK2 mutation carriers

npj Parkinson's Disease
In Parkinson’s disease (PD), GBA1- and LRRK2-mutations are associated with different clinical phenotypes which might be related to differential involvement of the cholinergic system.
Julia Schumacher, Nicola Ray, Stefan Teipel, Alexander Storch   +3 more
doaj   +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

Cell Death in Neurodegenerative Diseases: Molecular Mechanisms and Therapeutic Targets

MedComm, Volume 7, Issue 9, September 2026.
Regulated cell death pathways, including apoptosis, necroptosis, pyroptosis, ferroptosis, and autophagy‐dependent cell death, interact with mitochondrial dysfunction, proteostasis failure, lysosomal stress, glial remodeling, and neuroinflammation across major neurodegenerative diseases.
Tianjiao Li, Qian Zhang, Yichen Wu, Ruixue Huang   +3 more
wiley   +1 more source

Lysine acetyltransferase 8-mediated histone acetylation, regulated by GBA1, is associated with lysosomal function related to α-Synuclein pathology

Cell Death and Disease
Lysosomal defects are closely linked to Parkinson’s disease (PD). Mutations in the GBA1 gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), are major genetic risk factors for PD.
Yifan Cao, Zhixiong Zhang, Xinbei Gu, Haifeng Lu, Jin Wu, Chuang Zhang, Xinyue Huang, Haitao Qin, Feng Liu, Zhenhua Liu, Beisha Tang, Xiaojun Lu, Haigang Ren, Hongyang Sun, Rui Wang, Guanghui Wang   +15 more
doaj   +1 more source

Exploring the relationship between GBA1 host genotype and gut microbiome in the GBA1L444P/WT mouse model: implications for Parkinson’s disease pathogenesis

Frontiers in Neuroscience
BackgroundHeterozygous variants in GBA1 are the commonest genetic risk factor for Parkinson’s disease (PD), but penetrance is incomplete. GBA1 dysfunction can cause gastrointestinal disturbances and microbiome changes in preclinical models.
Elisa Menozzi, Elisa Menozzi, Mallia Geiger, Mallia Geiger, Victoria Meslier, Victoria Meslier, Federico Fierli, Federico Fierli, Marine Gilles, Kai-Yin Chau, Kai-Yin Chau, Aymeric David, Aymeric David, Revi Shahar Golan, Revi Shahar Golan, Alexandre Famechon, Alexandre Famechon, Sofia Koletsi, Sofia Koletsi, Christian Morabito, Christian Morabito, Benoit Quinquis, Benoit Quinquis, Nicolas Pons, Nicolas Pons, Stanislav Dusko Ehrlich, Stanislav Dusko Ehrlich, Jane Macnaughtan, Jane Macnaughtan, Mathieu Almeida, Mathieu Almeida, Anthony HV Schapira, Anthony HV Schapira   +32 more
doaj   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, Volume 16, Issue 8, Page 1563-1592, August 2026.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source