Amicus Therapeutics, Inc.

Novartis Finance Corporation

Matthew John Toth

Richie Khanna

Leslie Robin Huwyler

The present invention provides mouse models for Pompe disease and methods of using the same to test agents that may be effective in the treatment of Pompe disease.

Mouse model for pompe disease and methods of use thereof

We have cloned and expressed the cDNA for human liver mevalonate pyrophosphate decarboxylase, an enzyme of the cholesterol synthesis pathway. This cDNA encodes a 400 amino acid protein (43 kDa) which resembles the coding sequence of an unidentified and incomplete open reading frame adjacent to the COQ2 gene of Saccharomyces cerevisiae. We also found an expression sequence tag clone made from human infant brain cDNA to be almost identical to our cDNA sequence.

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Iselin, NJ, United States of America

Matthew John Toth