Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease

Collaborative Development of 2-Hydroxypropyl-β-Cyclodextrin for the Treatment of Niemann-Pick Type C1 Disease

(2014) Elizabeth Ottinger et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Adaptations of Energy Metabolism Associated with Increased Levels of Mitochondrial Cholesterol in Niemann-Pick Type C1-deficient Cells

(2014) Barry E. Kennedy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ursocholanic acid rescues mitochondrial function in common forms of familial Parkinson’s disease

(2013) Heather Mortiboys et al.   BRAIN

Disease and patient characteristics in NP-C patients: findings from an international disease registry

(2013) Marc C Patterson et al.   Orphanet Journal of Rare Diseases

Cytochrome P450 enzymes in drug metabolism: Regulation of gene expression, enzyme activities, and impact of genetic variation

(2013) Ulrich M. Zanger et al.   PHARMACOLOGY & THERAPEUTICS

LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: New biomarkers for the detection of Niemann–Pick type C disease

(2013) Masamitsu Maekawa et al.   STEROIDS

On the formation and possible biological role of 25-hydroxycholesterol

(2012) Ulf Diczfalusy   BIOCHIMIE

CYP3A-dependent drug metabolism is reduced in bacterial inflammation in mice

(2012) AS Gandhi et al.   BRITISH JOURNAL OF PHARMACOLOGY

Microarray expression analysis and identification of serum biomarkers for Niemann–Pick disease, type C1

(2012) Celine V.M. Cluzeau et al.   HUMAN MOLECULAR GENETICS

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

Regulation of Hepatic Cytochromes P450 by Lipids and Cholesterol

(2011) Mateja Hafner et al.   CURRENT DRUG METABOLISM

Lack of efficacy of curcumin on neurodegeneration in the mouse model of Niemann–Pick C1

(2011) Ivan A. Borbon et al.   PHARMACOLOGY BIOCHEMISTRY AND BEHAVIOR

Metabolism of 1'- and 4-Hydroxymidazolam by Glucuronide Conjugation Is Largely Mediated by UDP-Glucuronosyltransferases 1A4, 2B4, and 2B7

(2010) K.-A. Seo et al.   DRUG METABOLISM AND DISPOSITION

Recovery from liver disease in a Niemann-Pick type C mouse model

(2010) Naomi L. Sayre et al.   JOURNAL OF LIPID RESEARCH

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

(2010) F. D. Porter et al.   Science Translational Medicine

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

(2009) Marc C. Patterson et al.   JOURNAL OF CHILD NEUROLOGY

Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Sex Differences in the Expression of Hepatic Drug Metabolizing Enzymes

(2009) D. J. Waxman et al.   MOLECULAR PHARMACOLOGY

Spiral analysis in Niemann-Pick disease type C

(2009) Annie W. Hsu et al.   MOVEMENT DISORDERS

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1

(2009) David Smith et al.   NEUROBIOLOGY OF DISEASE

Interplay of Pregnane X receptor with Other Nuclear Receptors on Gene Regulation

(2008) Yun-Ping Lim et al.   Drug Metabolism and Pharmacokinetics

Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease

(2008) Alejandra R. Alvarez et al.   FASEB JOURNAL

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

(2008) Elena Elliot-Smith et al.   MOLECULAR GENETICS AND METABOLISM

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

(2008) Emyr Lloyd-Evans et al.   NATURE MEDICINE