Results 61 to 70 of about 3,043 (176)

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

Co‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review

Movement Disorders, EarlyView.
Abstract Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.
Michele Matarazzo, Per Borghammer, Inas Elsayed, Jennifer G. Goldman, Yue Huang, Katja Lohmann, Per Svenningsson, Lorraine V. Kalia, Daniela Berg, Jeffrey H. Kordower, the MDS Scientific Issues Committee   +10 more
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

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

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

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 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

PREDICT‐PD: A Two‐Stage Approach to Early Identification of Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Sasivimol Virameteekul, Sheena Waters, Brook Huxford, Ashvin Kuri, Manuela Tan, Laura Pérez‐Carbonell, Eduardo de Pablo‐Fernández, Anette Schrag, Alastair J. Noyce, Cristina Simonet   +9 more
wiley   +1 more source

Long‐Duration Response to Levodopa in the PPMI‐Cohort

Movement Disorders, EarlyView.
Abstract Background Treatment of Parkinson's disease (PD) with levodopa results in a sustained reduction of symptoms. Although the plasma half‐life of levodopa is short, it elicits a lasting effect, the long‐duration levodopa response (LDR). A decrease in LDR as PD progresses has been linked to motor complications, but long‐term data on the LDR and its
Nils Schnalke, Tim Feige, Tom Hähnel, Björn Falkenburger   +3 more
wiley   +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