Concepedia

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

Maria K. Tsaousidou, Karim Ouahchi, Yi Yang, Michael A. Simpson, Nigel G. Laing, Philip A. Wilkinson, R. E. Madrid, Heema Patel, Fayçal Hentati, Michael A. Patton,

The American Journal of Human Genetics · 2008 · 186 citations · 29 references

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29

CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

A. E. Harding · The Lancet · 1983 · 961 citations

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Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

James J. Cali, C L Hsieh, Uta Francke et al. · Journal of Biological Chemistry · 1991 · 504 citations · Full text

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Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype

Clive R. Pullinger, Celeste Eng, Gerald Salen et al. · Journal of Clinical Investigation · 2002 · 469 citations · Full text

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Human cholesterol 7α-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype

Clive R. Pullinger, Celeste Eng, Gerald Salen et al. · Journal of Clinical Investigation · 2002 · 460 citations · Full text

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Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.

Kenneth D.R. Setchell, Margrit Schwarz, Nancy C. O’Connell et al. · Journal of Clinical Investigation · 1998 · 377 citations · Full text

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