Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration Maria K. Tsaousidou, Karim Ouahchi, Tom T.

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Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration Maria K. Tsaousidou, Karim Ouahchi, Tom T. Warner, Yi Yang, Michael A. Simpson, Nigel G. Laing, Philip A. Wilkinson, Ricardo E. Madrid, Heema Patel, Faycal Hentati, Michael A. Patton, Afif Hentati, Philippa J. Lamont, Teepu Siddique, Andrew H. Crosby The American Journal of Human Genetics Volume 82, Issue 2, Pages 510-515 (February 2008) DOI: 10.1016/j.ajhg.2007.10.001 Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 1 A Simplified Overview of the Major Bile-Acid and Neurosteroid Biosynthetic Pathways The bile-acid pathway is indicated in blue, and the neurosteroid pathway is indicated in red. The American Journal of Human Genetics 2008 82, 510-515DOI: (10.1016/j.ajhg.2007.10.001) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Figure 2 Family Trees and DNA Sequence Chromatographs Are Indicated by the Red Boxes, and Conservation of Affected Amino Acid Residues Is Shown in the Blue Box The American Journal of Human Genetics 2008 82, 510-515DOI: (10.1016/j.ajhg.2007.10.001) Copyright © 2008 The American Society of Human Genetics Terms and Conditions