An atomic structure of human γ-secretase.
Beijing, China. In Nature, Oct 2015
Dysfunction of the intramembrane protease γ-secretase is thought to cause Alzheimer's disease, with most mutations derived from Alzheimer's disease mapping to the catalytic subunit presenilin 1 (PS1).
Exome sequencing in a breast cancer family without BRCA mutation.
Seoul, South Korea. In Radiat Oncol J, Jun 2015
Using the Sorting Intolerant From Tolerant (SIFT), PolyPhen-2, and MutationTaster algorithms to predict amino acid substitutions, the XCR1, DLL1, TH, ACCS, SPPL3, CCNF, and SRL genes were risky among all three algorithms, while definite candidate genes could not be conclusively determined.