Associated Papers
Eight novel mutations detected from eight Chinese patients with isovaleric acidemia.
Li Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Specific mutations in presenilin 1 cause conformational changes in γ-secretase to modulate amyloid β trimming.
Imai S et al.
Journal of Biochemistry, 2019
Nicastrin is dispensable for gamma-secretase protease activity in the presence of specific presenilin mutations.
Futai E et al.
The Journal of Biological Chemistry, 2009
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