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These findings suggest that the Glu318Gly mutation may work as a genetic risk factor for Alzheimer's disease.
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Where different oncogenic mutations may work together to enhance the survival of a tumor cell, in isolation they are often pro-apoptotic, pro-differentiative or pro-senescent, and therefore often, somewhat paradoxically, disadvantageous to a cell.
We speculate that loss-of-function mutations in ATP13A2 may work similarly to silencing of the PANK2 gene, which disrupts normal cation transfer and leads to mitochondrial and lysosomal dysfunction and ultimately to cation accumulation in the brain [ 63, 64].
This protean progression means that a drug targeted to one mutation may not work against cancer cells throughout the body.
10 Whether this approach may work on neurons having heterozygous dominant mutations is a testable hypothesis.
Research published earlier this year suggested PD-1 inhibitors may work best on tumors with lots of mutations, and a small clinical trial of pembrolizumab backed this up.
Different treatments may work in different molecular subsets of cancer, depending on the mutation.
Some experts say that testing a tumor for genetic mutations is a far more practical way to figure out which drug may work best.
But it may work.
And that may work.
That may work.
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