Results 81 to 90 of about 4,639 (191)

Pathogenic GBA1 Variants and their Interaction with the Gut–Microbiota–Brain Axis in Parkinson's Disease

Movement Disorders, EarlyView.
Helen Dainton‐Howard, Phillip Engen, Kristi Lawrence, Maliha Shaikh, Mohamad Abdel‐Mohsen, Stefan Green, Ankur Naqib, Neha Joshi, Michelle Villanueva, Alana Kirby, Ali Keshavarzian, Christopher Goetz   +11 more
wiley   +1 more source

Neurodegenerative Diseases: Epidemiology, Risk Factors, Classification, Pathophysiology, Clinical Features, Diagnosis, and Therapeutic Strategies

MedComm, Volume 7, Issue 11, November 2026.
Neurodegenerative diseases share convergent risk architectures and pathological mechanisms, yet diverge in selective vulnerability, clinical presentation, and therapeutic responsiveness. This review integrates cross‐disease epidemiology, pathophysiology, diagnosis, and treatment, highlighting the transition from symptomatic care toward biomarker‐guided
Zimeng He, Jingjing Zeng, Guoqing Wang, Yuxin Li, Feng Zhang   +4 more
wiley   +1 more source

Targeting the GBA1 pathway to slow Parkinson disease: Insights into clinical aspects, pathogenic mechanisms and new therapeutic avenues [PDF]

, 2023
The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase), which is involved in sphingolipid metabolism. Biallelic variants in GBA1 cause Gaucher disease (GD), a lysosomal storage disorder characterised by loss of GCase activity and aberrant ...
Menozzi, E, Schapira, AHV, Toffoli, M
core  

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

Prodromal Parkinsonian Features in Carriers of Gaucher Disease Compared to Controls

Life
Carriers of Gaucher disease have an increased risk of developing Parkinson’s disease (PD). Identifying PD in its prodromal stage is crucial, as early detection before motor symptoms appear allows for potential interventions to salvage neurons and slow or
Michal Becker-Cohen, Ari Zimran, Tama Dinur, Maayan Tiomkin, Arndt Rolfs, David Arkadir, Peter Bauer, Elena Shulman, Gilad Yahalom, Mikhal E. Cohen, Orly Manor, Ora Paltiel, Shoshana Revel-Vilk   +12 more
doaj   +1 more source

Dermal Phospho-Alpha-Synuclein Deposition in Patients With Parkinson's Disease and Mutation of the Glucocerebrosidase Gene

Frontiers in Neurology, 2018
Heterozygous mutations in the glucocerebrosidase gene (GBA1) represent the most common genetic risk factor for Parkinson's disease (PD) and are histopathologically associated with a widespread load of alpha-synuclein in the brain.
Kathrin Doppler, Kathrin Brockmann, Annahita Sedghi, Isabel Wurster, Jens Volkmann, Wolfgang H. Oertel, Claudia Sommer   +6 more
doaj   +1 more source

Metabolic Structure: A Paradigm Revisited in Light of the Fundamental Parameters of Living Systems

BioEssays, Volume 48, Issue 10, October 2026.
Metabolism is redefined as a dynamic thermodynamic field shaped by six fundamental parameters (time, water, entropy, quantum effects, space, and electrostatics) rather than fixed genetic architecture. Case studies from enzyme kinetics to cancer cell differentiation show metabolic states, not structure alone, determine flux and control, and can be ...
Jacques Fantini
wiley   +1 more source

Motor Deficits in an Alpha-Synuclein Mouse Model of Parkinson's Disease are not Exacerbated by Gba1 Mutation [PDF]

, 2017
Parkinson’s disease is a movement disorder characterized by nigrostriatal dopamine pathway degeneration and neuronal α-synuclein accumulation. Pathogenesis is associated with mutations in α-synuclein and Gba1 encoding alleles.
Fitzpatrick, Megan E.
core   +1 more source

The most common structural variant expected at the GBA1 locus may be detected by a simple amplification method: Implications for screening Parkinson’s disease variants

Clinical Parkinsonism & Related Disorders
Introduction: Recombinant alleles are responsible for a large part of Gaucher disease (GD) causing alterations. This is because GBA1, the gene involved in GD, has a 96 % homologous pseudogene, GBAP1, at a 1.6kb distance.
Roberto Rozenberg, Fabiano Tofoli de Araujo, Hsin Fen Chien, Egberto Reis Barbosa, Lygia V. Pereira   +4 more
doaj   +1 more source

Multi-omics insights into GBA1-associated Parkinson’s disease: interplay of genomics, transcriptomics, proteomics, and lipidomics

Molecular Neurodegeneration
Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder worldwide. The pathogenesis of PD is driven by multifactorial mechanisms involving a complex interplay among environmental exposures, genetic susceptibility, and aging ...
Yang Ni, Huaibin Cai, Yaping Shao, Weidong Le   +3 more
doaj   +1 more source