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  1. Article

    Open Access

    Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol

    Niemann-Pick disease type A and B is caused by a deficiency of acid sphingomyelinase due to mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene. In Niemann-Pick patients, SMPD1 gene defects are report...

    Zari Dastani, Isabelle L Ruel, James C Engert, Jacques Genest Jr… in BMC Medical Genetics (2007)

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    Article

    Compound heterozygosity at the sphingomyelin phosphodiesterase-1 (SMPD1) gene is associated with low HDL cholesterol

    Type A and B forms of Niemann-Pick disease (NPD) are lipid storage disorders caused by deficient activity of the enzyme acid sphingomyelinase (aSMase) and the resulting accumulation of sphingomyelin in tissues...

    Ching Yin Lee, Larbi Krimbou, Jérôme Vincent, Chantal Bernard… in Human Genetics (2003)

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    Article

    Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency

    Genes have a major role in the control of high-density lipoprotein (HDL) cholesterol (HDL-C) levels. Here we have identified two Tangier disease (TD) families, confirmed 9q31 linkage and refined the disease lo...

    Angela Brooks-Wilson, Michel Marcil, Susanne M. Clee, Lin-Hua Zhang… in Nature Genetics (1999)