Lysosomal cholesterol accumulation is commonly found in most peroxisomal disorders and reversed by 2-hydroxypropyl-β-cyclodextrin

Hitching a ride to the top: peroxisomes fuel cilium with cholesterol

(2021) Jie Luo et al.   Science China-Life Sciences

The brain penetrant PPARγ agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy

(2021) Laura Rodríguez-Pascau et al.   Science Translational Medicine

X‐linked adrenoleukodystrophy: Pathology, pathophysiology, diagnostic testing, newborn screening and therapies

(2020) Bela R. Turk et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Monitoring the itinerary of lysosomal cholesterol in Niemann-Pick Type C1-deficient cells after cyclodextrin treatment

(2020) McKenna Feltes et al.   JOURNAL OF LIPID RESEARCH

The Changing Face of Adrenoleukodystrophy

(2020) Jia Zhu et al.   ENDOCRINE REVIEWS

Disruption of the ERLIN–TM6SF2–APOB complex destabilizes APOB and contributes to non-alcoholic fatty liver disease

(2020) Bo-Tao Li et al.   PLoS Genetics

POST1/C12ORF49 regulates the SREBP pathway by promoting site-1 protease maturation

(2020) Jian Xiao et al.   Protein & Cell

Lysosomal storage disorders – challenges, concepts and avenues for therapy: beyond rare diseases

(2019) André R. A. Marques et al.   JOURNAL OF CELL SCIENCE

Cyclodextrin triggers MCOLN1-dependent endo-lysosome secretion in Niemann-Pick type C cells

(2019) Fabrizio Vacca et al.   JOURNAL OF LIPID RESEARCH

Cholesterol transport through the peroxisome-ER membrane contacts tethered by PI(4,5)P2 and extended synaptotagmins

(2019) Jian Xiao et al.   Science China-Life Sciences

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

(2019) Carlos Casasnovas et al.   Neurotherapeutics

Extended synaptotagmins, peroxisome-endoplasmic reticulum contact and cholesterol transport

(2019) Hongyuan Yang   Science China-Life Sciences

Malabaricone C as Natural Sphingomyelin Synthase Inhibitor against Diet-Induced Obesity and Its Lipid Metabolism in Mice

(2019) Muhamad Aqmal Othman et al.   ACS Medicinal Chemistry Letters

ER–lysosome contacts enable cholesterol sensing by mTORC1 and drive aberrant growth signalling in Niemann–Pick type C

(2019) Chun-Yan Lim et al.   NATURE CELL BIOLOGY

The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy

(2019) Eric J. Mallack et al.   Current Treatment Options in Neurology

Movement of accessible plasma membrane cholesterol by the GRAMD1 lipid transfer protein complex

(2019) Tomoki Naito et al.   eLife

Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment

(2018) Ronald J.A. Wanders   MOLECULAR AND CELLULAR PROBES

ORP2 Delivers Cholesterol to the Plasma Membrane in Exchange for Phosphatidylinositol 4, 5-Bisphosphate (PI(4,5)P2)

(2018) Huan Wang et al.   MOLECULAR CELL

Intracellular Cholesterol Transport by Sterol Transfer Proteins at Membrane Contact Sites

(2018) Jie Luo et al.   TRENDS IN BIOCHEMICAL SCIENCES

Hydroxypropyl-beta and -gamma cyclodextrins rescue cholesterol accumulation in Niemann–Pick C1 mutant cell via lysosome-associated membrane protein 1

(2018) Ashutosh Singhal et al.   Cell Death & Disease

VAPs and ACBD5 tether peroxisomes to the ER for peroxisome maintenance and lipid homeostasis

(2017) Rong Hua et al.   JOURNAL OF CELL BIOLOGY

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

(2017) Daniel S Ory et al.   LANCET

Applying systems-level spectral imaging and analysis to reveal the organelle interactome

(2017) Alex M. Valm et al.   NATURE

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

(2017) Florian Eichler et al.   NEW ENGLAND JOURNAL OF MEDICINE

Domain 4 (D4) of Perfringolysin O to Visualize Cholesterol in Cellular Membranes—The Update

(2017) Masashi Maekawa   SENSORS

Routes and mechanisms of post-endosomal cholesterol trafficking: A story that never ends

(2017) Jie Luo et al.   TRAFFIC

Peroxisomal Dysfunction in Age-Related Diseases

(2017) Cynthia M. Cipolla et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Peroxisomal dysfunctions cause lysosomal storage and axonal Kv1 channel redistribution in peripheral neuropathy

(2017) Sandra Kleinecke et al.   eLife

LDL–cholesterol transport to the endoplasmic reticulum

(2016) Simon G. Pfisterer et al.   CURRENT OPINION IN LIPIDOLOGY

ACBD2/ECI2-Mediated Peroxisome-Mitochondria Interactions in Leydig Cell Steroid Biosynthesis

(2016) Jinjiang Fan et al.   MOLECULAR ENDOCRINOLOGY

Cyclodextrin promotes atherosclerosis regression via macrophage reprogramming

(2016) Sebastian Zimmer et al.   Science Translational Medicine

Brain endothelial dysfunction in cerebral adrenoleukodystrophy

(2015) Patricia L. Musolino et al.   BRAIN

Cerebral adrenoleukodystrophy: a demyelinating disease that leaves the door wide open: Figure 1

(2015) Patrick Aubourg   BRAIN

Cholesterol Transport through Lysosome-Peroxisome Membrane Contacts

(2015) Bei-Bei Chu et al.   CELL

Oxidative Stress in Patients with X-Linked Adrenoleukodystrophy

(2015) Marion Deon et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Complementary probes reveal that phosphatidylserine is required for the proper transbilayer distribution of cholesterol

(2015) M. Maekawa et al.   JOURNAL OF CELL SCIENCE

Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann–Pick C1

(2015) Timothy J. Maarup et al.   MOLECULAR GENETICS AND METABOLISM

Adenoassociated Virus Serotype 9-Mediated Gene Therapy for X-Linked Adrenoleukodystrophy

(2015) Yi Gong et al.   MOLECULAR THERAPY

Zellweger spectrum disorders: clinical overview and management approach

(2015) Femke C. C. Klouwer et al.   Orphanet Journal of Rare Diseases

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease

(2015) Charles H. Vite et al.   Science Translational Medicine

Peroxisomes: A Nexus for Lipid Metabolism and Cellular Signaling

(2014) Irfan J. Lodhi et al.   Cell Metabolism

X-Linked Adrenoleukodystrophy: Pathogenesis and Treatment

(2014) Marc Engelen et al.   Current Neurology and Neuroscience Reports

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study

(2014) Björn M. van Geel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin

(2014) Jean E. Vance et al.   JOURNAL OF LIPID RESEARCH

Three pools of plasma membrane cholesterol and their relation to cholesterol homeostasis

(2014) Akash Das et al.   eLife

Peroxisomes take shape

(2013) Jennifer J. Smith et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Ablation of gp78 in Liver Improves Hyperlipidemia and Insulin Resistance by Inhibiting SREBP to Decrease Lipid Biosynthesis

(2012) Tong-Fei Liu et al.   Cell Metabolism

Normalization of Cholesterol Homeostasis by 2-Hydroxypropyl-β-cyclodextrin in Neurons and Glia from Niemann-Pick C1 (NPC1)-deficient Mice

(2012) Kyle B. Peake et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuroprotection by cyclodextrin in cell and mouse models of Alzheimer disease

(2012) Jiaqi Yao et al.   JOURNAL OF EXPERIMENTAL MEDICINE

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

(2012) Marc Engelen et al.   Orphanet Journal of Rare Diseases

Hydrogen Peroxide Probes Directed to Different Cellular Compartments

(2011) Mikalai Malinouski et al.   PLoS One

Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice

(2011) X. Xie et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A genetically encoded sensor for H2O2 with expanded dynamic range

(2010) Kseniya N. Markvicheva et al.   BIOORGANIC & MEDICINAL CHEMISTRY

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy

(2010) Rob Ofman et al.   EMBO Molecular Medicine

Lipid rafts are essential for peroxisome biogenesis in HepG2 cells

(2010) Jannes Woudenberg et al.   HEPATOLOGY

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

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

(2009) Hyock Joo Kwon et al.   CELL

Fast Diffusion of Very Long Chain Saturated Fatty Acids across a Bilayer Membrane and Their Rapid Extraction by Cyclodextrins

(2009) Biju K. Pillai et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

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

Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy

(2009) N. Cartier et al.   SCIENCE

Enhanced production of nitric oxide, reactive oxygen species, and pro-inflammatory cytokines in very long chain saturated fatty acid-accumulated macrophages

(2008) Naotake Yanagisawa et al.   Lipids in Health and Disease