Results 51 to 60 of about 2,830 (159)

Greater risk of parkinsonism associated with non‐N370S GBA1 mutations [PDF]

Journal of Inherited Metabolic Disease, 2012
AbstractMutations in β‐glucosidase (GBA1) are the most common genetic risk factor for Parkinson disease (PD). There is evidence to suggest that PD risk is greater (1) in GBA1 heterozygotes with non‐N370S GBA1 mutations compared to N370S mutations and (2) in GD type 1 (GD1) patients compared to GBA1 heterozygotes.
M J, Barrett, P, Giraldo, J L, Capablo, P, Alfonso, P, Irun, B, Garcia-Rodriguez, M, Pocovi, G M, Pastores   +7 more
openaire   +2 more sources

Dysregulation of mitochondria-lysosome contacts by GBA1 dysfunction in dopaminergic neuronal models of Parkinson’s disease

Nature Communications, 2021
Mitochondria-lysosome contact sites mediate cross-talk between the two organelles. Here, the authors show mitochondria-lysosome contacts are prolonged and defective in heterozygous mutant GBA1 neurons, which is caused by defective modulation of TBC1D15 ...
Soojin Kim, Yvette C. Wong, Fanding Gao, Dimitri Krainc   +3 more
doaj   +1 more source

Uncovering the Complexity of Synucleinopathies: An Ongoing Tale Between Proteins and Lipids

Movement Disorders, EarlyView.
Abstract Neurodegenerative diseases are pathological states characterized by progressive alterations in brain homeostasis during aging. Synucleinopathies, including Parkinson's disease and dementia with Lewy bodies, are defined neuropathologically by the accumulation of inclusions known as Lewy bodies and Lewy neurites.
Manuel Flores‐León, Tiago F. Outeiro
wiley   +1 more source

A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene

npj Parkinson's Disease, 2023
Several heterozygous variants of the glucocerebrosidase gene (GBA1) have been reported to increase the risk of Parkinson’s disease (PD) and dementia with Lewy bodies (DLB).
Jussi O. T. Sipilä, Laura Kytövuori, Tuomas Rauramaa, Hugo Rauhamaa, Valtteri Kaasinen, Kari Majamaa   +5 more
doaj   +1 more source

The Race to Salvage Glucocerebrosidase: Understanding Small‐Molecule Therapies for GBA1‐Associated Parkinsonism

Movement Disorders, EarlyView.
Variants in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, cause Gaucher disease and confer an increased risk for parkinsonism. Strategies using small molecules can improve the function of glucocerebrosidase in lysosomes. A clear understanding of the mechanism‐of‐action of these compounds will facilitate development of GBA1‐modulating
Mark J. Henderson, Tiffany C. Chen, Logan M. Glasstetter, Yu Chen, Juan J. Marugan, Ellen Sidransky   +5 more
wiley   +1 more source

Accelerating Medicines Partnership® Parkinson's Disease Proteomics: A Comprehensive Resource for Advancing Parkinson's Disease Research

Movement Disorders, EarlyView.
Abstract Background Recent advances in proteomic profiling have enabled its use as a powerful approach in elucidating molecular mechanisms underlying Parkinson's disease, enabling the identification of disease‐associated protein alterations and candidate biomarkers for diagnosis, progression, and therapeutic response.
Victoria J. Dardov, Aparna Vasanthakumar, Ameya Kulkarni, Niveda Sundararaman, Rakhi Pandey, Preeti Bais, Jennifer E. Van, Maria Quinton, Barry Landin, David Vismer, Bradford Casey, Matt Bookman, Willy Nojopranoto, Erin Teeple, Can Kayatekin, Rajaraman Krishnan, Richard Hargreaves, Guhan Nagappan, S. Pablo Sardi, Sri Ramulu Pullagura, Christine Swanson‐Fischer, Accelerating Medicines Partnership Parkinson's Disease (AMP PD) Proteomics Working Group   +21 more
wiley   +1 more source

N370S‐GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease

Movement Disorders, 2017
AbstractBackgroundHeterozygous mutations in the GBA1 gene, which encodes the lysosomal enzyme β‐glucocerebrosidase‐1, increase the risk of developing Parkinson's disease, although the underlying mechanisms remain unclear. The aim of this study was to explore the impact of the N370S‐GBA1 mutation on cellular homeostasis and vulnerability in a patient ...
Patricia García‐Sanz, Lorena Orgaz, Guillermo Bueno‐Gil, Isabel Espadas, Eva Rodríguez‐Traver, Jaime Kulisevsky, Antonia Gutierrez, José C. Dávila, Rosa A. González‐Polo, José M. Fuentes, Pablo Mir, Carlos Vicario, Rosario Moratalla   +12 more
openaire   +3 more sources

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

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

Autophagic dysfunction and gut microbiota dysbiosis cause chronic immune activation in a Drosophila model of Gaucher disease.

PLoS Genetics, 2023
Mutations in the GBA1 gene cause the lysosomal storage disorder Gaucher disease (GD) and are the greatest known genetic risk factors for Parkinson's disease (PD).
Magda L Atilano, Alexander Hull, Catalina-Andreea Romila, Mirjam L Adams, Jacob Wildfire, Enric Ureña, Miranda Dyson, Jorge Ivan-Castillo-Quan, Linda Partridge, Kerri J Kinghorn   +9 more
doaj   +1 more source