CYP7B1: One Cytochrome P450, Two Human Genetic Diseases, and Multiple Physiological Functions

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

(2009) C. Goizet et al.   BRAIN

Marked upregulation of cholesterol 25-hydroxylase expression by lipopolysaccharide

(2009) Ulf Diczfalusy et al.   JOURNAL OF LIPID RESEARCH

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study

(2009) Chiara Criscuolo et al.   JOURNAL OF NEUROLOGY

Neonatal Cholestatic Liver Disease in an Asian Patient With a Homozygous Mutation in the Oxysterol 7α-hydroxylase Gene

(2009) Isao Ueki et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

(2009) Roberta Biancheri et al.   NEUROMUSCULAR DISORDERS

25-Hydroxycholesterol secreted by macrophages in response to Toll-like receptor activation suppresses immunoglobulin A production

(2009) D. R. Bauman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2008) Maria K. Tsaousidou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CYP7B1-mediated metabolism of dehydroepiandrosterone and 5α-androstane-3β,17β-diol - potential role(s) for estrogen signaling

(2008) Hanna Pettersson et al.   FEBS Journal

Fifty years of advances in bile acid synthesis and metabolism

(2008) David W. Russell   JOURNAL OF LIPID RESEARCH

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

(2008) Rebecca Schüle et al.   NEUROGENETICS

27-Hydroxycholesterol Is an Endogenous Selective Estrogen Receptor Modulator

(2007) Carolyn D. DuSell et al.   MOLECULAR ENDOCRINOLOGY