Now showing items 1-3 of 3
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
(Genet Med, 2014-10)
PURPOSE: The endoplasmic reticulum-associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum membrane into the cytosol for subsequent degradation by the proteasome. ...
Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
(J Alzheimers Dis, 2010)
Alzheimer's disease is a complex and progressive neurodegenerative disease leading to loss of memory, cognitive impairment, and ultimately death. To date, six large-scale genome-wide association studies have been conducted ...
The characterization of twenty sequenced human genomes.
(PLoS Genet, 2010-09-09)
We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest. We sequenced at high coverage ten "case" genomes from individuals ...