Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
Tight genetic linkage between FALS and a gene that encodes a cytosolic, Cu/Zn-binding superoxide dismutase (SOD1), a homodimeric metalloenzyme that catalyzes the dismutation of the toxic superoxide anion O–2 to O2 and H2O2 is reported.
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
A minimal cosegregating region containing the AD3 gene is defined, and at least 19 different transcripts encoded within this region corresponds to a novel gene whose product is predicted to contain multiple transmembrane domains and resembles an integral membrane protein.
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database
A publicly available, continuously updated database that comprehensively catalogs all genetic association studies in the field of Alzheimer disease, and it serves as a potential model for tracking the most viable gene candidates in other genetically complex diseases.
Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database
The SzGene project represents the first comprehensive online resource for systematically synthesized and graded evidence of genetic association studies in schizophrenia and could serve as a model for field synopses of genetic associations in other common and genetically complex disorders.
The genetics of Alzheimer disease.
- R. Tanzi
- BiologyCold Spring Harbor Perspectives in Medicine
- 1 October 2012
The past, present, and future attempts to elucidate the complex and heterogeneous genetic underpinnings of AD are reviewed.
Twenty Years of the Alzheimer’s Disease Amyloid Hypothesis: A Genetic Perspective
Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease.
It is indicated that the FAD-linked mutations may all cause Alzhelmer's disease by increasing the extracellular concentration of A beta 42(43), thereby fostering cerebral deposition of this highly amyloidogenic peptide.
Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease
The Alzheimer Disease Genetics Consortium (ADGC) performed a genome-wide association study of late-onset Alzheimer disease using a three-stage design consisting of a discovery stage (stage 1) and two…
Insulin-degrading enzyme regulates the levels of insulin, amyloid beta-protein, and the beta-amyloid precursor protein intracellular domain in vivo.
- Wesley Farris, Stefan Mansourian, S. Guénette
- Biology, MedicineProceedings of the National Academy of Sciences…
In vivo findings suggest that IDE hypofunction may underlie or contribute to some forms of AD and DM2 and provide a mechanism for the recently recognized association among hyperinsulinemia, diabetes, and AD.
Chronic Traumatic Encephalopathy in Blast-Exposed Military Veterans and a Blast Neurotrauma Mouse Model
- L. Goldstein, Andrew M. Fisher, A. McKee
- Psychology, BiologyScience Translational Medicine
- 16 May 2012
Evidence of chronic traumatic encephalopathy (CTE), a tau protein–linked neurodegenerative disease, was found that was similar to the CTE neuropathology observed in young amateur American football players and a professional wrestler with histories of concussive injuries.