Results 1 to 10 of about 3,043 (176)

Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials [PDF]

npj Parkinson's Disease
Variants in the GBA1 gene are the commonest genetic risk factor for Parkinson disease (PD). Genotype-phenotype correlations exist but with conflicting data.
Elisa Menozzi, Sara Lucas Del Pozo, Jane Macnaughtan, Roxana Mezabrovschi, Sofia Koletsi, Pierfrancesco Mitrotti, Luca Gallo, Rosaria Calabrese, Marco Toffoli, Nadine Loefflad, Franco Valzania, Francesco Cavallieri, Valentina Fioravanti, Selen Yalkic, Naomi Limbachiya, Fabio Blandini, Micol Avenali, Anthony HV Schapira   +17 more
doaj   +7 more sources

mTOR Inhibition Drives Mutation-Specific Remodeling of Lysosomal and Autophagic Pathways and GCase Activity in PBMC-Derived Macrophages from Patients with GBA1-Associated Parkinson’s Disease [PDF]

Current Issues in Molecular Biology
To date, we and others have demonstrated that GBA1-associated Parkinson’s disease (GBA1-PD) exhibits hyperactivation of mTOR and impairment of mTOR-regulated autophagy. Our previous study showed that the degree of autophagy impairment depends on the type
Anastasia Bezrukova, Katerina Basharova, Anton Emelyanov, Anna Lavrinova, Anna Krapova, Ekaterina Galkina, Ekaterina Skudarnova, Galina Baydakova, Irina Miliukhina, Ekaterina Zakharova, Sofya Pchelina, Tatiana Usenko   +11 more
doaj   +2 more sources

Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease

Frontiers in Neurology, 2022
Variants in the GBA1 and LRRK2 genes are the most common genetic risk factors associated with Parkinson disease (PD). Both genes are associated with lysosomal and autophagic pathways, with the GBA1 gene encoding for the lysosomal enzyme ...
Laura Smith, Chiao-Yin Lee, Elisa Menozzi   +2 more
exaly   +3 more sources

The dual impact of GBA1 in disease: from germline mutations in neurological disorders to alterations in cancer [PDF]

Cell Death Discovery
The GBA1 gene encodes the enzyme glucocerebrosidase, which is responsible for lysosomal degradation of the glycosphingolipid glucosylceramide. Biallelic mutations in GBA1 are causative for Gaucher disease, whereas either monoallelic or biallelic ...
Valentina Fantini, Giulia Di Rauso, Valentina Fioravanti, Alessia Ciarrocchi, Francesco Cavallieri, Valentina Sancisi   +5 more
doaj   +2 more sources

Targeting lysosomal pH restores mitochondrial quality control in GBA1-mutant Parkinson’s disease [PDF]

Translational Neurodegeneration
Background Heterozygous mutations in the glucocerebrosidase gene (GBA1), which encodes the lysosomal enzyme β-glucocerebrosidase (GCase), are a genetic risk factor for Parkinson’s disease (PD).
Preethi Sheshadri, Maria Alicia Costa-Besada, Alessia Fisher, Szilvia Kiraly, Kritarth Singh, Ioanna Kourouzidou, Thomas S. Blacker, Jialiu Zeng, Orian S. Shirihai, Mark W. Grinstaff, Michael R. Duchen   +10 more
doaj   +3 more sources

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

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   +2 more sources

Deregulation of mTORC1-TFEB axis in human iPSC model of GBA1-associated Parkinson’s disease

Frontiers in Neuroscience, 2023
Mutations in the GBA1 gene are the single most frequent genetic risk factor for Parkinson’s disease (PD). Neurodegenerative changes in GBA1-associated PD have been linked to the defective lysosomal clearance of autophagic substrates and aggregate-prone ...
Chinmoy Sarkar, Aditi Banerjee, Marta M Lipinski   +2 more
exaly   +3 more sources

Genetic Variants and Clinical Characteristics of Young-Onset Parkinson's Disease in the Hakka Population of Western Fujian. [PDF]

Brain Behav
In 33 Hakka young‐onset Parkinson's disease (YOPD) patients from western Fujian, whole exome sequencing (WES) plus spinocerebellar ataxia (SCA) panel testing and multiplex ligation‐dependent probe amplification (MLPA) defined the genetic spectrum. Pathological ATXN2 repeat expansion was detected in two cases.
Pan LY, Guo F, Zheng C, Hu XH, Chen YG, Lin RR.   +5 more
europepmc   +2 more sources

The genetic architecture of Parkinson’s disease on the Island of Crete [PDF]

npj Parkinson's Disease
We investigated the genetic landscape of Parkinson’s disease (PD) on the island of Crete. DNA samples from 360 PD patients and 251 controls were analyzed using a combination of genotyping, whole-exome sequencing, and targeted screening for GBA1 variants ...
Iro Boura, Shaimaa Sait, Nikolaos M. Marinakis, Kumar Arvind, Ruth Chia, Anindita Ray, Giannis Vatsellas, Theodoros Loupis, Vasiliki Pavlaki, Periklis Makrythanasis, Panayiotis Mitsias, Georgia Xiromerisiou, Sonja W. Scholz, Cleanthe Spanaki   +13 more
doaj   +2 more sources

Nrf2/NOX2 Pathway Dysregulation and Oxidative Stress Biomarkers in Gaucher Disease-Associated Parkinsonism: Insights Into a Potential Therapeutic Target. [PDF]

J Cell Mol Med
ABSTRACT Parkinson's disease (PD) is the second most prevalent neurodegenerative disorder, yet its underlying genetic and molecular mechanisms remain incompletely understood. Variants in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase, are not only responsible for Gaucher disease (GD) but also represent a significant genetic risk factor ...
Ardizzone A, Lanza M, Capra AP, Casili G, Bulzomì M, Luca F, Paterniti I, Campolo M, Esposito E.   +8 more
europepmc   +2 more sources