Results 81 to 90 of about 11,713 (255)

Genetic and Pathological Testing Attitudes for Parkinson's Disease in At‐Risk Relatives

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is increasingly recognized as a neurodegenerative disorder with a broad clinical spectrum and diverse biomarkers enabling early detection. α‐synuclein seed amplification assays (SAA) and genetic testing now allow identification of PD pathology in asymptomatic individuals.
Tal Weil, Anat Mirelman, Roy N. Alcalay, Nurit Omer, Penina Ponger, Avner Thaler   +5 more
wiley   +1 more source

Mitochondrial dysfunction associated with glucocerebrosidase deficiency

Neurobiology of Disease, 2016
The lysosomal hydrolase glucocerebrosidase (GCase) is encoded for by the GBA gene. Homozygous GBA mutations cause Gaucher disease (GD), a lysosomal storage disorder. Furthermore, homozygous and heterozygous GBA mutations are numerically the greatest genetic risk factor for developing Parkinson's disease (PD), the second most common neurodegenerative ...
Gegg, ME, Schapira, AH
openaire   +4 more sources

Case report: Multidisciplinary collaboration in diagnosis and treatment of child gaucher disease

Frontiers in Pediatrics, 2023
Gaucher disease (GD) is an inherited lysosomal storage disease caused by mutations in the glucocerebrosidase gene. The decrease of glucocerebrosidase activity in lysosomes results in the accumulation of its substrate glucocerebroside in the lysosomes of ...
Jianfang Zhu, Yuxiao Sun, Weiyan Zheng, Chunlin Wang   +3 more
doaj   +1 more source

Glucocerebrosidase deficiency promotes release of α-synuclein fibrils from cultured neurons

Human Molecular Genetics, 2020
Mutations in the GBA gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are the most important genetic risk factor for Parkinson disease (PD). GCase activity is also decreased in sporadic PD brains and with normal ageing.
Matthew E Gegg, G. Verona, A. Schapira
semanticscholar   +1 more source

LRRK2 as a Potential Disease‐Modifying Target in Sporadic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract A growing understanding of the role that leucine‐rich repeat kinase 2 (LRRK2) plays in Parkinson's disease (PD) supports continued focus on this enzyme as a therapeutic target for PD. Accumulating evidence suggests that there are phenotypic, neuropathologic, and biological similarities between sporadic PD (sPD) and familial forms in which ...
Anthony E. Lang, Robert A. Hauser, Lorraine V. Kalia, Bonnie Hersh, Zdenek Berger, Roy Llorens Arenas, Coro Paisan‐Ruiz, Kyle Fraser, Danna Jennings, Jillian H. Kluss, Sarah Huntwork‐Rodriguez, Anastasia G. Henry, J. Timothy Greenamyre   +12 more
wiley   +1 more source

Autophagic dysregulation triggers innate immune activation in glucocerebrosidase deficiency

Autophagy Reports
Mutations in the GBA1 (glucosylceramidase beta 1) gene cause the most common lysosomal storage disorder, Gaucher disease (GD), characterized by the lysosomal accumulation of glucosylceramide and lysosomal dysfunction.
Magda L. Atilano, Alexander J. Hull, Kerri J. Kinghorn   +2 more
doaj   +1 more source

The Future of Targeted Gene-Based Treatment Strategies and Biomarkers in Parkinson’s Disease

Biomolecules, 2020
Biomarkers and disease-modifying therapies are both urgent unmet medical needs in the treatment of Parkinson’s disease (PD) and must be developed concurrently because of their interdependent relationship: biomarkers for the early detection of disease (i ...
Alexia Polissidis, Lilian Petropoulou-Vathi, Modestos Nakos-Bimpos, Hardy J. Rideout   +3 more
doaj   +1 more source

Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson's disease

Frontiers in Neurology, 2022
ObjectiveBiallelic mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase, cause the lysosomal storage disorder Gaucher disease (GD).
Grisel J. Lopez, Jens Lichtenberg, Nahid Tayebi, Emory Ryan, Abigail L. Lecker, Ellen Sidransky   +5 more
doaj   +1 more source

Engineering monocyte/macrophage−specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing

Nature Communications, 2020
Gaucher disease is a lysosomal storage disorder caused by insufficient glucocerebrosidase activity. Its hallmark manifestations are attributed to infiltration and inflammation by macrophages.
Samantha G. Scharenberg, É. Poletto, K. Lucot, P. Colella, A. Sheikali, T. Montine, M. Porteus, N. Gomez-Ospina   +7 more
semanticscholar   +1 more source

Parkinson's‐Linked LRRK2 and GBA1 Mutations Modulate the Peripheral Immune Response to Pseudomonas aeruginosa

Movement Disorders, EarlyView.
Abstract Background Peripheral disease mechanisms such as immune dysregulation may contribute to Parkinson's disease (PD). To investigate interactions between common PD mutations and immune responses to environmental pathogens, we studied responses to Pseudomonas aeruginosa (P.
Julian R. Mark, Hannah A. Staley, Ann M. Titus, Julian Agin‐Liebes, Alicia Garrido, Laura Hughes, Nicolas Dzamko, Rebecca L. Wallings, Malú Gámez Tansey   +8 more
wiley   +1 more source