The lab has shown that when NMDAR function is
impaired by a genetic mutation, they can recreate, in the mouse, the structural, neurochemical, and functional alterations in the brain that are characteristic of schizophrenia — for example, cognitive and memory impairments for which there are currently no effective treatments.
Not exact matches
Moreover, researchers analysed in detail the effect of these
mutations by using advanced engineering and
genetic edition techniques and were able to demonstrate that the
mutations are pathogenic since they
impair the repair capacities of the EDC4 gene.
Von Willebrand disease is caused
by genetic mutations that
impair the synthesis, release, function or stability of von Willebrand factor.