Cytochromes P450: Roles in Diseases

Extrarenal expression of the 25-hydroxyvitamin D-1-hydroxylase

(2012) J.S. Adams et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Vitamin D 25-hydroxylase – Four decades of searching, are we there yet?

(2012) Jinge Zhu et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Novel mutations of CYP27B1 gene lead to reduced activity of 1α-hydroxylase in Chinese patients

(2012) Ningyi Cui et al.   BONE

Three-dimensional Structure of Steroid 21-Hydroxylase (Cytochrome P450 21A2) with Two Substrates Reveals Locations of Disease-associated Variants

(2012) Bin Zhao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutation of theCYP2R1Vitamin D 25-Hydroxylase in a Saudi Arabian Family with Severe Vitamin D Deficiency

(2012) Angham N. Al Mutair et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due toCYP24A1Mutations: Effects of Ketoconazole Therapy

(2012) Peter J. Tebben et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Structures of cytochrome P450 17A1 with prostate cancer drugs abiraterone and TOK-001

(2012) Natasha M. DeVore et al.   NATURE

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey

(2011) B. Pilo-de-la-Fuente et al.   EUROPEAN JOURNAL OF NEUROLOGY

Cytochrome P450s in the synthesis of cholesterol and bile acids - from mouse models to human diseases

(2011) Gregor Lorbek et al.   FEBS Journal

Mouse Knockout of the Cholesterogenic Cytochrome P450 Lanosterol 14α-Demethylase (Cyp51) Resembles Antley-Bixler Syndrome

(2011) Rok Keber et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic Defect inCYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia

(2011) Andrew Dauber et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Early steps in steroidogenesis: intracellular cholesterol trafficking

(2011) Walter L. Miller et al.   JOURNAL OF LIPID RESEARCH

CYP24A1Mutations in Idiopathic Infantile Hypercalcemia

(2011)   NEW ENGLAND JOURNAL OF MEDICINE

Mutations inCYP24A1and Idiopathic Infantile Hypercalcemia

(2011) Karl P. Schlingmann et al.   NEW ENGLAND JOURNAL OF MEDICINE

Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system

(2011) N. Strushkevich et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cytochromes P450 are essential players in the vitamin D signaling system

(2010) Inge Schuster   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Four novel CYP27A1 mutations in seven Italian patients with CTX

(2010) G. N. Gallus et al.   EUROPEAN JOURNAL OF NEUROLOGY

Structural Basis for Three-step Sequential Catalysis by the Cholesterol Side Chain Cleavage Enzyme CYP11A1

(2010) Natalia Mast et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Functional Consequences of Seven Novel Mutations in theCYP11B1Gene: Four Mutations Associated with Nonclassic and Three Mutations Causing Classic 11β-Hydroxylase Deficiency

(2010) Silvia Parajes et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia

(2010) Taninee Sahakitrungruang et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

CYP17 inhibitors for prostate cancer therapy

(2010) Tadas S. Vasaitis et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses

(2010) Huy-Hoang Nguyen et al.   MOLECULAR GENETICS AND METABOLISM

Cholesterol 24-Hydroxylase: An Enzyme of Cholesterol Turnover in the Brain

(2009) David W. Russell et al.   Annual Review of Biochemistry

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

(2009) C. Goizet et al.   BRAIN

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

(2009) Ashlee R. Stiles et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Crystal Structure of CYP24A1, a Mitochondrial Cytochrome P450 Involved in Vitamin D Metabolism

(2009) Andrew J. Annalora et al.   JOURNAL OF MOLECULAR BIOLOGY

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

Structural basis for androgen specificity and oestrogen synthesis in human aromatase

(2009) Debashis Ghosh et al.   NATURE

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

(2009) Roberta Biancheri et al.   NEUROMUSCULAR DISORDERS

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

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

Targeting CYP17: established and novel approaches in prostate cancer

(2008) Timothy A Yap et al.   CURRENT OPINION IN PHARMACOLOGY

Cholesterol-metabolizing cytochromes P450: implications for cholesterol lowering

(2008) Irina A Pikuleva   Expert Opinion on Drug Metabolism & Toxicology

Severe Combined Adrenal and Gonadal Deficiency Caused by Novel Mutations in the Cholesterol Side Chain Cleavage Enzyme, P450scc

(2008) Chan Jong Kim et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Novel Homozygous Mutation inCYP11A1Gene Is Associated with Late-Onset Adrenal Insufficiency and Hypospadias in a 46,XY Patient

(2008) Petr Rubtsov et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Structural Analysis of CYP2R1 in Complex with Vitamin D3

(2008) Natallia Strushkevich et al.   JOURNAL OF MOLECULAR BIOLOGY

Association of a CYP4A11 Variant and Blood Pressure in Black Men

(2008) J. V. Gainer et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

(2008) Rebecca Schüle et al.   NEUROGENETICS

Cytochrome P450 and Chemical Toxicology

(2007) F. Peter Guengerich   CHEMICAL RESEARCH IN TOXICOLOGY