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Cognitive deficit has been identified in one third of patients affected by Duchenne Muscular Dystrophy, primarily attributed to loss of the short Dp71 dystrophin, the major brain dystrophin isoform. In this study, we investigated for the first time the Dp71 and Dp71-associated proteins cellular localization and expression in human neurons obtained by differentiation from induced pluripotent stem cell line of a patient affected by cognitive impairment. We found structural and molecular alterations in both pluripotent stem cell and derived neurons, reduced Dp71 expression, and a Ca 2+  cytoplasmic overload in neurons coupled with increased expression of the SERCA2 pump in the dystrophic neurons. These results suggest that the reduction of Dp71 protein in the Duchenne muscular dystrophy neurons leads to alterations in SERCA2 and to elevated cytosolic Ca 2+  concentration with consequent potential disruption of the dystrophin proteins and Dp71-associated proteins.   Electronic supplementary material  The online version of this article (10.1186/s13287-018-1125-5) contains supplementary material, which is available to authorized users.

DP71 and SERCA2 alteration in human neurons of a Duchenne muscular dystrophy patient