Publications by Silvia Dominisini

Publications by authors named "Silvia Dominisini"

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Functional analysis of 11 novel GBA alleles.

Erika Malini Serena Grossi Marta Deganuto Camillo Rosano Rossella Parini Silvia Dominisini

Eur J Hum Genet

April 2014

Gaucher disease is the most frequent lysosomal storage disorder due to the deficiency of the acid β-glucosidase, encoded by the GBA gene. In this study, we report the structural and functional characterization of 11 novel GBA alleles. Seven single missense alleles, P159S, N188I, E235K, P245T, W312S, S366R and W381C, and two alleles carrying in cis mutations, (N188S; G265R) and (E326K; D380N), were studied for enzyme activity in transiently transfected cells.

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