Acid ceramidase improves mitochondrial function and oxidative stress in Niemann-Pick type C disease by repressing STARD1 expression and mitochondrial cholesterol accumulation

NPC1-mTORC1 Signaling Couples Cholesterol Sensing to Organelle Homeostasis and Is a Targetable Pathway in Niemann-Pick Type C

(2020) Oliver B. Davis et al.   DEVELOPMENTAL CELL

Endoplasmic Reticulum Stress-induced Upregulation of STARD1 Promotes Acetaminophen-induced Acute Liver Failure

(2019) Sandra Torres et al.   GASTROENTEROLOGY

Cholesterol enrichment in liver mitochondria impairs oxidative phosphorylation and disrupts the assembly of respiratory supercomplexes

(2019) Estel Solsona-Vilarrasa et al.   Redox Biology

Disorders in the initial steps of steroid hormone synthesis

(2017) Walter L. Miller   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease

(2017) Sandra Torres et al.   Frontiers in Physiology

MLN64 induces mitochondrial dysfunction associated with increased mitochondrial cholesterol content

(2017) Elisa Balboa et al.   Redox Biology

Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease

(2017) Sandra Torres et al.   Redox Biology

Lysosome and endoplasmic reticulum quality control pathways in Niemann-Pick type C disease

(2016) Mark L. Schultz et al.   BRAIN RESEARCH

Increased acid ceramidase expression depends on upregulation of androgen-dependent deubiquitinases, USP2, in a human prostate cancer cell line, LNCaP

(2015) Naoki Mizutani et al.   JOURNAL OF BIOCHEMISTRY

Lysosomal Cholesterol Accumulation Sensitizes To Acetaminophen Hepatotoxicity by Impairing Mitophagy

(2015) Anna Baulies et al.   Scientific Reports

Complex lipid trafficking in Niemann-Pick disease type C

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

Visualization of cholesterol deposits in lysosomes of Niemann-Pick type C fibroblasts using recombinant perfringolysin O

(2014) Katarzyna Kwiatkowska et al.   Orphanet Journal of Rare Diseases

ASMase is required for chronic alcohol induced hepatic endoplasmic reticulum stress and mitochondrial cholesterol loading

(2013) Anna Fernandez et al.   JOURNAL OF HEPATOLOGY

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

(2013) Martin Fan et al.   JOURNAL OF LIPID RESEARCH

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

(2012) Frances M. Platt et al.   JOURNAL OF CELL BIOLOGY

Acid Ceramidase (ASAH1) Represses Steroidogenic Factor 1-Dependent Gene Transcription in H295R Human Adrenocortical Cells by Binding to the Receptor

(2012) N. C. Lucki et al.   MOLECULAR AND CELLULAR BIOLOGY

Cellular Adaptation to Anthrax Lethal Toxin-Induced Mitochondrial Cholesterol Enrichment, Hyperpolarization, and Reactive Oxygen Species Generation through Downregulating MLN64 in Macrophages

(2012) S.-D. Ha et al.   MOLECULAR AND CELLULAR BIOLOGY

Acid Ceramidase (ASAH1) Is a Global Regulator of Steroidogenic Capacity and Adrenocortical Gene Expression

(2012) Natasha C. Lucki et al.   MOLECULAR ENDOCRINOLOGY

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

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

Gonadal transactivation of STARD1, CYP11A1 and HSD3B

(2011) Steven et al.   Frontiers in Bioscience-Landmark

Contributions of steroidogenic factor 1 to the transcription landscape of Y1 mouse adrenocortical tumor cells

(2010) Bernard P. Schimmer et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Lack of Activation of the Unfolded Protein Response in Mouse and Cellular Models of Niemann-Pick Type C Disease

(2010) Andres Klein et al.   Neurodegenerative Diseases

Mitochondrial Glutathione, a Key Survival Antioxidant

(2009) Montserrat Marí et al.   ANTIOXIDANTS & REDOX SIGNALING

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

(2009) Hyock Joo Kwon et al.   CELL

MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein

(2009) Mark Charman et al.   JOURNAL OF LIPID RESEARCH

Mitochondrial Cholesterol Loading Exacerbates Amyloid   Peptide-Induced Inflammation and Neurotoxicity

(2009) A. Fernandez et al.   JOURNAL OF NEUROSCIENCE

Mitochondrial Cholesterol Contributes to Chemotherapy Resistance in Hepatocellular Carcinoma

(2008) J. Montero et al.   CANCER RESEARCH

Liver receptor homolog 1 is essential for ovulation

(2008) R. Duggavathi et al.   GENES & DEVELOPMENT

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

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