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

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Presentation on theme: "Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration  Maria K. Tsaousidou, Karim Ouahchi, Tom T."— Presentation transcript:

1 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 (February 2008) DOI: /j.ajhg Copyright © 2008 The American Society of Human Genetics Terms and Conditions

2 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  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

3 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  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

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