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  1. Article

    Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway

    By comparing mRNA profiles in cultured fibroblasts from patients affected with lysosomal storage diseases, we identified differentially expressed genes common to these conditions. These studies, confirmed by b...

    P Bifsha, K Landry, L Ashmarina, S Durand, V Seyrantepe… in Cell Death & Differentiation (2007)

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    Widespread distribution of β-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol

    Sandhoff disease is a severe inherited neurodegenerative disorder resulting from deficiency of the β-subunit of hexosaminidases A and B, lysosomal hydrolases involved in the degradation of GM2 ganglioside and rel...

    C Bourgoin, C Emiliani, E J Kremer, A Gelot, B Tancini, R A Gravel… in Gene Therapy (2003)

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    Identification of an altered splice site in Ashkenazi Tay-Sachs disease

    Tay-Sachs disease is an autosomal recessive genetic disorder resulting from mutation of the HEXA gene encoding the α-subunit of the lysosomal enzyme, β-N-acerylhexosaminidase A (ref. 1). A relatively high frequen...

    E. Arpaia, A. Dumbrille-Ross, T. Maler, K. Neote, M. Tropak, C. Troxel… in Nature (1988)

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    Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single “Gaucher gene”

    Gaucher disease is a lysosomal storage disorder resulting from a deficiency of acid β-glucosidase. Several clinical forms have been described, including infantile, juvenile, and adult onset variants. We have e...

    R. A. Gravel, A. Leung in Human Genetics (1983)