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

Oxidative stress in Niemann–Pick disease, type C

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

2-Hydroxypropyl-β-Cyclodextrin Raises Hearing Threshold in Normal Cats and in Cats With Niemann-Pick Type C Disease

(2010) Sarah Ward et al.   PEDIATRIC RESEARCH

Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid

(2009) Benny Liu et al.   JOURNAL OF LIPID RESEARCH

Cytotoxic effects of oxysterols associated with human diseases: Induction of cell death (apoptosis and/or oncosis), oxidative and inflammatory activities, and phospholipidosis

(2009) Anne Vejux et al.   MOLECULAR ASPECTS OF MEDICINE

Recommendations on the diagnosis and management of Niemann-Pick disease type C

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

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

Unraveling the sterol-trafficking defect in Niemann-Pick C disease

(2009) S. L. Sturley et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

(2009) B. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cholestane-3β,5α,6β-triol-induced reactive oxygen species production promotes mitochondrial dysfunction in isolated mice liver mitochondria

(2008) Hongmei Liu et al.   CHEMICO-BIOLOGICAL INTERACTIONS

Potential of Sterol Analysis by Liquid Chromatography-Tandem Mass Spectrometry for the Prenatal Diagnosis of Smith-Lemli-Opitz Syndrome

(2008) W. J. Griffiths et al.   CLINICAL 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

Oxysterol as a Marker of Atherogenic Dyslipidemia in Adolescence

(2008) Dalal Alkazemi et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Highly sensitive quantification of key regulatory oxysterols in biological samples by LC-ESI-MS/MS

(2008) Akira Honda et al.   JOURNAL OF LIPID RESEARCH