Results 161 to 170 of about 4,639 (191)

The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice [PDF]

Brain, 2017
Mutations in glucocerebrosidase 1 (GBA1) represent the most prevalent risk factor for Parkinson's disease. The molecular mechanisms underlying the link between GBA1 mutations and Parkinson's disease are incompletely understood.
Anna Migdalska-Richards, Michał Węgrzynowicz   +1 more
exaly   +3 more sources

DNA Methylation of α-Synuclein Intron 1 Is Significantly Decreased in the Frontal Cortex of Parkinson’s Individuals with GBA1 Mutations [PDF]

International Journal of Molecular Sciences, 2023
Parkinson’s disease (PD) is a common movement disorder, estimated to affect 4% of individuals by the age of 80. Mutations in the glucocerebrosidase 1 (GBA1) gene represent the most common genetic risk factor for PD, with at least 7–10% of non-Ashkenazi ...
Adam R Smith, Katie Lunnon
exaly   +2 more sources

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Imaging and genetics in Parkinson’s disease: assessment of the GBA1 mutation

Journal of Neurology, 2022
Several genetic variants are associated with an increased risk for developing Parkinson's Disease (PD) and limited genotype/phenotype correlation. Specifically, mutations in GBA1, the gene coding for the lysosomal enzyme glucocerebrosidase, are associated with an earlier age of onset and faster disease progression.
Sweta Ghatti, Esther Yoon, Grisel Lopez, Debra Ehrlich, Silvina G. Horovitz   +4 more
openaire   +2 more sources

Mitochondria–lysosome crosstalk in GBA1-associated Parkinson’s disease

3 Biotech, 2022
Organelle crosstalk is significant in regulating their respective functions and subsequent cell fate. Mitochondria and lysosomes are amongst the essential organelles in maintaining cellular homeostasis. Mitochondria-lysosome connections, which may develop dynamically in the human neurons, have been identified as sites of bidirectional communication ...
M. Sahyadri, Abhishek P. R. Nadiga, Seema Mehdi, K. Mruthunjaya, Pawan G. Nayak, Vipan K. Parihar, S. N. Manjula   +6 more
openaire   +2 more sources

A Novel Role for Glucocerebrosidase 1 (GBA1) in Parkinson’s Disease

The FASEB Journal, 2022
Parkinson’s disease (PD) is the second most common neurodegenerative disorder, yet the pathological mechanisms driving disease onset and progression are not well understood. Glucocerebrosidase 1 (GBA1), the gene encoding the lysosomal enzyme glucoslyceramidase (GCase), has been identified as the most important genetic risk factor ...
Jayabalan, Nanthini, Roper, Katherine Kerry, Woodhouse, Helen M., Adam, Robert J., O'Sullivan, John D., Gordon, Richard   +5 more
openaire   +2 more sources

Exposure factors and clinical characteristics associated with Parkinson's disease in GBA1 variant carriers: A Chinese GBA1-PD intrafamilial survey

Parkinsonism and Related Disorders
Glucosylceramidase beta 1 (GBA1) mutations are a genetic risk factor for Parkinson's disease (PD), though most carriers do not develop the disease. This study aimed to identify exposure factors linked to PD in GBA1 carriers and assess clinical features and the probability of prodromal PD in non-manifesting carriers.Data from the Parkinson's Disease ...
Ji-Feng Guo, Peishan Li, Xuxiang Zhang
exaly   +3 more sources

GBA1-and LRRK2-directed Treatments: The Way Forward

Parkinsonism & Related Disorders
There is an urgent need to identify drug targets for disease modification in Parkinson's Disease (PD). In this mini-review we highlight the reasons genetically-defined drug targets show great promise. Specifically, clinical trials targeting the glucocerebrosidase-1 (GBA1) and leucine-rich repeat kinase 2 (LRRK2) genes are underway.
Gadi Maayan Eshed, Roy N. Alcalay
openaire   +2 more sources

GBA1-associated parkinsonism: new insights and therapeutic opportunities

Current Opinion in Neurology, 2019
Purpose of review GBA1 mutations, which result in the lysosomal disorder Gaucher disease, are the most common known genetic risk factor for Parkinson disease and Dementia with Lewy Bodies (DLB).
Emory, Ryan, Gurpreet, Seehra, Pankaj, Sharma, Ellen, Sidransky   +3 more
openaire   +2 more sources

ZEBRAFISH AS A MODEL OF GLUCOCEREBROSIDASE 1 (GBA1) DEFICIENCY

Journal of Neurology, Neurosurgery & Psychiatry, 2015
ObjectivesTo establish and characterise glucocerebrosidase 1 (GBA1) mutant zebrafish line.BackgroundHomozygous GBA1 mutations (GBA1−/−) cause Gaucher disease (GD), heterozygote GBA1 mutations (GBA+/−) are the most common risk factor for Parkinson's disease (PD).
Marcus Keatinge, Marc DaCosta, Aswin Menke, Yu-Chia Chen, Hai Hoang Bui, Mike O'Neill, Oliver Bandmann   +6 more
openaire   +1 more source

Clinical Studies of GBA1 -associated Parkinsonism: Progress and Challenges

Neurodegenerative Disease Management, 2016
Section of Molecular Neurogenetics, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA *Author for correspondence: Tel.: +1 301 451 0901 or 301 496 0373; Fax: +1 301 402 6438; sidranse@mail.nih.gov Mutations in glucocerebrosidase (GBA1), the gene mutated in the lysosomal storage disorder Gaucher disease ...
Grisel, Lopez, Gianina, Monestime, Ellen, Sidransky   +2 more
openaire   +2 more sources