Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann–Pick diseases

(2015) Glynis Klinke et al.   CLINICAL BIOCHEMISTRY

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

(2015) Sonia Pajares et al.   JOURNAL OF LIPID RESEARCH

A new simple and rapid LC–ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann–Pick type C disease

(2014) Sara Boenzi et al.   CLINICA CHIMICA ACTA

Complex lipid trafficking in Niemann-Pick disease type C

(2014) Marie T. Vanier   JOURNAL OF INHERITED METABOLIC DISEASE

On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO

(2014) Ingemar Björkhem et al.   JOURNAL OF LIPID RESEARCH

Acid sphingomyelinase activity is regulated by membrane lipids and facilitates cholesterol transfer by NPC2

(2014) Vincent O. Oninla et al.   JOURNAL OF LIPID RESEARCH

Lysosomal acid lipase A and the hypercholesterolaemic phenotype

(2013) Sigrid W. Fouchier et al.   CURRENT OPINION IN LIPIDOLOGY

Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease

(2013) Na Lin et al.   JOURNAL OF LIPID RESEARCH

Cholesterol trapping in Niemann-Pick disease type B fibroblasts can be relieved by expressing the phosphotyrosine binding domain of GULP

(2012) Ching Yin Lee et al.   Journal of Clinical Lipidology

Oxysterols formation as a reflection of biochemical pathways: summary of in vitro and in vivo studies

(2011) Jacob Vaya et al.   CHEMISTRY AND PHYSICS OF LIPIDS

Smith–Lemli–Opitz syndrome

(2011) Andrea E. DeBarber et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Conversion of 7-Dehydrocholesterol to 7-Ketocholesterol Is Catalyzed by Human Cytochrome P450 7A1 and Occurs by Direct Oxidation without an Epoxide Intermediate

(2011) Raku Shinkyo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Familial Hypercholesterolemia: The Lipids or the Genes?

(2011) Akl C Fahed et al.   Nutrition & Metabolism

Alteration of Gene Expression Profile in Niemann-Pick Type C Mice Correlates with Tissue Damage and Oxidative Stress

(2011) Mary C. Vázquez et al.   PLoS One

Oxysterols: A world to explore

(2010) A. Otaegui-Arrazola et al.   FOOD AND CHEMICAL TOXICOLOGY

Oxidative stress in Niemann–Pick disease, type C

(2010) Rao Fu et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Oxidized Lipids Formed Non-enzymatically by Reactive Oxygen Species

(2008) William L. Smith et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cholesterol, Reactive Oxygen Species, and the Formation of Biologically Active Mediators

(2008) Robert C. Murphy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone

(2008) Stefania Zampieri et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE