A5016569717- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- Cancer-related gene regulation
- Stress Responses and Cortisol
- Tryptophan and brain disorders
- Neuroscience and Neuropharmacology Research
- Neuroinflammation and Neurodegeneration Mechanisms
- Neurotransmitter Receptor Influence on Behavior
- Alzheimer's disease research and treatments
- Nuclear Receptors and Signaling
- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- Receptor Mechanisms and Signaling
- Congenital heart defects research
National Institute on Aging
2022-2024
National Institutes of Health
2022-2024
Dartmouth College
2024
University of North Dakota
2023
University of Michigan
2023
Michigan State University
2020-2021
We characterized the role of structural variants, a largely unexplored type genetic variation, in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases 4,132 controls. discovered, replicated, validated deletion
<h3>Background and Objectives</h3> Most patients with amyotrophic lateral sclerosis (ALS) lack a monogenic mutation. This study evaluates ALS cumulative genetic risk in an independent Michigan Spanish replication cohort using polygenic scores. <h3>Methods</h3> Participant samples from University of were genotyped assayed for the chromosome 9 open reading frame 72 hexanucleotide expansion. Final size was 219 223 healthy controls after genotyping participant filtering. Polygenic scores...
Drugs of abuse cause significant neuroadaptations within the ventral tegmental area (VTA), with alterations in gene expression tied to changes reward behavior. Serum- and glucocorticoid-inducible kinase 1 (SGK1) transcription, catalytic activity, phosphorylation are upregulated VTA by chronic cocaine or morphine treatment, positioning SGK1 as a critical mediator Using transgenic mouse models, we investigated effect knockout dopamine (DA) neurons evaluate necessity protein for natural drug...
Amyotrophic lateral sclerosis (ALS) is an age-associated, fatal neurodegenerative disorder causing progressive paralysis and respiratory failure. The genetic architecture of ALS still largely unknown.
Abstract Background Most amyotrophic lateral sclerosis (ALS) patients lack a monogenic mutation. This study evaluates ALS cumulative genetic risk in an independent Michigan and Spanish replication cohort using polygenic scores. Methods (n=219) healthy control (n=223) participant samples from University of were genotyped assayed for the C9orf72 hexanucleotide expansion. Polygenic scores excluding C9 region generated genome-wide association (20,806 cases, 59,804 controls). Adjusted logistic...