Research library - Genetic Diseases

This library is a growing collection of the most significant research advances and key review articles, categorized by subject areas, from across the literature.

2012

  • Ataxin-1 poly-Q-induced proteotoxic stress and apoptosis are attenuated in neural cells by docosahexaenoic acid-derived neuroprotectin D1

    Calandria J., Mukherjee P., de Rivero J., Zhu M., Petasis N. et al.

    Journal of Biological Chemistry (Published online 16 April 2012)

    [doi: 10.1074/jbc.M111.287078]

  • Essential Role of ELOVL4 Protein in Very Long Chain Fatty Acid Synthesis and Retinal Function

    Harkewicz R., Du H., Tong Z., Alkuraya H., Bedell M. et al.

    Journal of Biological Chemistry 287, (2012)

    [doi: 10.1074/jbc.M111.256073]

  • Identification of a new plasma biomarker of Alzheimer Disease using metabolomics technology

    Sato Y., Suzuki I., Nakamura T., Bernier F., Aoshima K. et al.

    Journal of Lipid Research (Published online 1 March 2012)

    [doi: 10.1194/jlr.M022376]

  • Apolipoprotein E Promotes β-Amyloid Trafficking and Degradation by Modulating Microglial Cholesterol Levels

    Lee C., Tse W., Smith J. and Landreth G.

    Journal of Biological Chemistry 287, (2012)

    [doi: 10.1074/jbc.M111.295451]

  • Primary amines protect against retinal degeneration in mouse models of retinopathies

    Maeda A., Golczak M., Chen Y., Okano K., Kohno H. et al.

    Nat Chem Biol (Published online 25 December 2011)

    [doi: 10.1038/nchembio.759]

  • Withania somnifera reverses Alzheimer's disease pathology by enhancing low-density lipoprotein receptor-related protein in liver

    Sehgal N., Gupta A., Valli R., Joshi S., Mills J. et al.

    Proceedings of the National Academy of Sciences 109, (2012)

    [doi: 10.1073/pnas.1112209109]

  • Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1

    Garofalo K., Penno A., Schmidt B., Lee H., Frosch M. et al.

    The Journal of Clinical Investigation 121, (2011)

    [doi: 10.1172/JCI57549]

  • LRP6 regulates LDLR-mediated LDL uptake

    Ye Z., Go G., Singh R., Liu W., Keramati A. et al.

    Journal of Biological Chemistry (Published online 6 January 2012)

    [doi: 10.1074/jbc.M111.295287]

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