Results 1 to 10 of about 3,074 (177)

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

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

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   +6 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 ...
, Elisa Menozzi, Chiao-Yin Lee
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

GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters

BMC Genomics, 2023
Background GBA1 variants are the strongest genetic risk factor for Parkinson’s disease (PD). However, the pathogenicity of GBA1 variants concerning PD is still not fully understood.
Carolin Gabbert, Susen Schaake, Theresa Lüth, Christoph Much, Christine Klein, Jan O. Aasly, Matthew J. Farrer, Joanne Trinh   +7 more
doaj   +4 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

Gene Therapy for Parkinson’s Disease Associated with Mutations

Journal of Parkinson’s Disease, 2021
Human genetic studies as well as studies in animal models indicate that lysosomal dysfunction plays a key role in the pathogenesis of Parkinson’s disease.
Asa Abeliovich, Franz Hefti, Jeffrey Sevigny   +2 more
doaj   +4 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   +2 more sources

and The Immune System: A Potential Role in Parkinson’s Disease?

Journal of Parkinson’s Disease, 2022
It is clear that the immune system and inflammation have a role in Parkinson’s disease (PD), including sporadic PD and some genetic forms such as LRRK2 -associated PD.
Zaid A.M. Al-Azzawi, Saman Arfaie, Ziv Gan-Or   +2 more
doaj   +3 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