Articles with "lrrk2 g2019s" as a keyword



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3D Cultures of Parkinson's Disease‐Specific Dopaminergic Neurons for High Content Phenotyping and Drug Testing

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Published in 2019 at "Advanced Science"

DOI: 10.1002/advs.201800927

Abstract: Abstract Parkinson's disease (PD)‐specific neurons, grown in standard 2D cultures, typically only display weak endophenotypes. The cultivation of PD patient‐specific neurons, derived from induced pluripotent stem cells carrying the LRRK2‐G2019S mutation, is optimized in 3D… read more here.

Keywords: disease specific; lrrk2 g2019s; drug; parkinson disease ... See more keywords
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LRRK2 G2019S-induced mitochondrial DNA damage is LRRK2 kinase dependent and inhibition restores mtDNA integrity in Parkinson’s disease

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Published in 2017 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddx320

Abstract: Mutations in leucine-rich repeat kinase 2 (LRRK2) are associated with increased risk for developing Parkinson's disease (PD). Previously, we found that LRRK2 G2019S mutation carriers have increased mitochondrial DNA (mtDNA) damage and after zinc finger… read more here.

Keywords: lrrk2 g2019s; mtdna damage; kinase; damage ... See more keywords
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A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease

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Published in 2022 at "Neurology: Genetics"

DOI: 10.1212/nxg.0000000000200008

Abstract: Background and Objectives To recruit and characterize a national cohort of individuals who have a genetic variant (LRRK2 G2019S) that increases risk of Parkinson disease (PD), assess participant satisfaction with a decentralized, remote research model,… read more here.

Keywords: individuals genetic; lrrk2 g2019s; parkinson disease; study ... See more keywords
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Association of Olfactory Performance With Motor Decline and Age at Onset in People With Parkinson Disease and the LRRK2 G2019S Variant

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Published in 2022 at "Neurology"

DOI: 10.1212/wnl.0000000000200737

Abstract: Background and Objectives There is clinical and phenotypic heterogeneity in LRRK2 G2019S Parkinson disease (PD), including loss of smell. Olfactory scores have defined subgroups of LRRK2 PD at baseline. We now extend this work longitudinally… read more here.

Keywords: lrrk2 g2019s; parkinson disease; age; lrrk2 ... See more keywords
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Age at Onset of Parkinson's Disease Among Ashkenazi Jewish Patients: Contribution of Environmental Factors, LRRK2 p.G2019S and GBA p.N370S Mutations.

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Published in 2020 at "Journal of Parkinson's disease"

DOI: 10.3233/jpd-191829

Abstract: BACKGROUND Both genetic and environmental factors contribute to Parkinson's disease (PD) risk. OBJECTIVE We investigated the potential association of several relevant variables with PD age at onset (AAO), focusing on LRRK2 p.G2019S and GBA p.N370S… read more here.

Keywords: gba n370s; environmental factors; lrrk2 g2019s; parkinson disease ... See more keywords
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Neuronal Firing and Glutamatergic Synapses in the Substantia Nigra Pars Reticulata of LRRK2-G2019S Mice

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Published in 2022 at "Biomolecules"

DOI: 10.3390/biom12111635

Abstract: Pathogenic mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are frequent causes of familial Parkinson’s Disease (PD), an increasingly prevalent neurodegenerative disease that affects basal ganglia circuitry. The cellular effects of the G2019S mutation… read more here.

Keywords: synaptic transmission; substantia nigra; lrrk2 g2019s; g2019s mice ... See more keywords
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Advances in Gene Therapy Techniques to Treat LRRK2 Gene Mutation

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Published in 2022 at "Biomolecules"

DOI: 10.3390/biom12121814

Abstract: Leucine-rich repeat kinase 2 (LRRK2) gene mutation is an autosomal dominant mutation associated with Parkinson’s disease (PD). Among LRRK2 gene mutations, the LRRK2 G2019S mutation is frequently involved in PD onset. Currently, diverse gene correction… read more here.

Keywords: gene mutation; lrrk2 g2019s; gene therapy; lrrk2 gene ... See more keywords