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Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal-dominant central nervous system white-matter disease with variable clinical presentations, including personality and… Expand
The Alzheimer's disease mitochondrial cascade hypothesis.
We first proposed the mitochondrial cascade hypothesis of sporadic Alzheimer's disease (AD) in 2004. Our core assumptions were a person's genes determine baseline mitochondrial function and… Expand
Heat Treatment Improves Glucose Tolerance and Prevents Skeletal Muscle Insulin Resistance in Rats Fed a High-Fat Diet
OBJECTIVE—Heat treatment and overexpression of heat shock protein 72 (HSP72) have been shown to protect against high-fat diet–induced insulin resistance, but little is known about the underlying… Expand
A "mitochondrial cascade hypothesis" for sporadic Alzheimer's disease.
Alzheimer's disease (AD) includes etiologically heterogeneous disorders characterized by senile or presenile dementia, extracellular amyloid protein aggregations containing an insoluble amyloid… Expand
The Alzheimer's disease mitochondrial cascade hypothesis: progress and perspectives.
Ten years ago we first proposed the Alzheimer's disease (AD) mitochondrial cascade hypothesis. This hypothesis maintains that gene inheritance defines an individual's baseline mitochondrial function;… Expand
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
- R. Sims, S. J. van der Lee, +446 authors G. Schellenberg
- Medicine, Biology
- Nature Genetics
- 1 September 2017
We identified rare coding variants associated with Alzheimer's disease in a three-stage case–control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray.… Expand
Elevated reactive oxygen species and antioxidant enzyme activities in animal and cellular models of Parkinson's disease.
- D. S. Cassarino, C. P. Fall, +6 authors J. Bennett
- Medicine, Biology
- Biochimica et biophysica acta
- 28 November 1997
The dopaminergic neurotoxin N-methyl,4-phenyl-1,2,3,6 tetrahydropyridine (MPTP) causes a syndrome in primates and humans which mimics Parkinson's disease (PD) in clinical, pathological, and… Expand
Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Risk for late-onset Alzheimer’s disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of… Expand
Abnormal Mitochondrial Morphology in Sporadic Parkinson's and Alzheimer's Disease Cybrid Cell Lines
- P. Trimmer, R. Swerdlow, J. Parks, P. Keeney, W. Parker
- Biology, Medicine
- Experimental Neurology
- 1 March 2000
Diseases linked to defective mitochondrial function are characterized by morphologically abnormal, swollen mitochondria with distorted cristae. Several lines of evidence now suggest that sporadic… Expand
Pathogenesis of Alzheimer’s disease
- R. Swerdlow
- Clinical interventions in aging
- 1 September 2007
Alzheimer’s disease (AD) is incredibly common. Increasing longevity ensures its prevalence will rise even further. Ongoing efforts to understand AD pathogenesis reveal numerous tantalizing leads.… Expand