Quantitative Analysis of the Proteome Response to the Histone Deacetylase Inhibitor (HDACi) Vorinostat in Niemann-Pick Type C1 disease

Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells

(2017) Nina H. Pipalia et al.   JOURNAL OF LIPID RESEARCH

Presymptomatic Alterations in Amino Acid Metabolism and DNA Methylation in the Cerebellum of a Murine Model of Niemann-Pick Type C Disease

(2016) Barry E. Kennedy et al.   AMERICAN JOURNAL OF PATHOLOGY

Mitochondrial dysfunction in fibroblasts derived from patients with Niemann-Pick type C disease

(2016) Marcin Woś et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

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

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

Genetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration

(2016) Chan Chung et al.   HUMAN MOLECULAR GENETICS

Normalization of Hepatic Homeostasis in theNpc1nmf164Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat

(2016) Andrew B. Munkacsi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2

(2016) Xiaochun Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Chronic administration of an HDAC inhibitor treats both neurological and systemic Niemann-Pick type C disease in a mouse model

(2016) Md. Suhail Alam et al.   Science Translational Medicine

A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele

(2015) M. Praggastis et al.   JOURNAL OF NEUROSCIENCE

New insights into the role of the branched-chain aminotransferase proteins in the human brain

(2015) Jonathon Hull et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann–Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis

(2015) Navin Rauniyar et al.   MOLECULAR & CELLULAR PROTEOMICS

ERp44 Exerts Redox-Dependent Control of Blood Pressure at the ER

(2015) Chihiro Hisatsune et al.   MOLECULAR CELL

∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis

(2015) Sandra Pankow et al.   NATURE

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

(2015) Simona Fecarotta et al.   Orphanet Journal of Rare Diseases

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

(2015) Marc C Patterson et al.   Orphanet Journal of Rare Diseases

Glycosylation inhibition reduces cholesterol accumulation in NPC1 protein-deficient cells

(2015) Jian Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Metabolic and cellular bases of sphingolipidoses

(2015) Konrad Sandhoff   BIOCHEMICAL SOCIETY TRANSACTIONS

Structure–activity relationships of oxysterol-derived pharmacological chaperones for Niemann–Pick type C1 protein

(2014) Kenji Ohgane et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

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

Endoplasmic Reticulum-associated Degradation of Niemann-Pick C1

(2014) Naoe Nakasone et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Complex lipid trafficking in Niemann-Pick disease type C

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

Isobaric Labeling-Based Relative Quantification in Shotgun Proteomics

(2014) Navin Rauniyar et al.   JOURNAL OF PROTEOME RESEARCH

The growing landscape of lysine acetylation links metabolism and cell signalling

(2014) Chunaram Choudhary et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Modulation of the Maladaptive Stress Response to Manage Diseases of Protein Folding

(2014) Daniela Martino Roth et al.   PLOS BIOLOGY

FKBP10 Depletion Enhances Glucocerebrosidase Proteostasis in Gaucher Disease Fibroblasts

(2013) Derrick Sek Tong Ong et al.   CHEMISTRY & BIOLOGY

Discovery of Oxysterol-Derived Pharmacological Chaperones for NPC1: Implication for the Existence of Second Sterol-Binding Site

(2013) Kenji Ohgane et al.   CHEMISTRY & BIOLOGY

Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease

(2013) Donna L. Bernstein et al.   JOURNAL OF HEPATOLOGY

Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood–brain barrier permeability

(2013) Charles C. Pontikis et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis

(2013) K. Sandhoff et al.   JOURNAL OF NEUROSCIENCE

USP15 Negatively Regulates Nrf2 through Deubiquitination of Keap1

(2013) Nicole F. Villeneuve et al.   MOLECULAR CELL

Acetylation Stabilizes ATP-Citrate Lyase to Promote Lipid Biosynthesis and Tumor Growth

(2013) Ruiting Lin et al.   MOLECULAR CELL

Pre-Symptomatic Activation of Antioxidant Responses and Alterations in Glucose and Pyruvate Metabolism in Niemann-Pick Type C1-Deficient Murine Brain

(2013) Barry E. Kennedy et al.   PLoS One

Impaired proteolysis underlies autophagic dysfunction in Niemann–Pick type C disease

(2012) Matthew J. Elrick et al.   HUMAN MOLECULAR GENETICS

Glucose-6-phosphate dehydrogenase, NADPH, and cell survival

(2012) Robert C. Stanton   IUBMB LIFE

Proteomic Assessment Shows That Many Endoplasmic Reticulum (ER)-resident Proteins Are Targeted by Nϵ-Lysine Acetylation in the Lumen of the Organelle and Predicts Broad Biological Impact

(2012) Mariana Pehar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Histone Deacetylase Inhibitor (HDACi) Suberoylanilide Hydroxamic Acid (SAHA)-mediated Correction of α1-Antitrypsin Deficiency

(2012) Marion Bouchecareilh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

δ-Tocopherol Reduces Lipid Accumulation in Niemann-Pick Type C1 and Wolman Cholesterol Storage Disorders

(2012) Miao Xu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mechanistic insights into the regulation of metabolic enzymes by acetylation

(2012) Yue Xiong et al.   JOURNAL OF CELL BIOLOGY

Molecular basis for the action of the collagen-specific chaperone Hsp47/SERPINH1 and its structure-specific client recognition

(2012) C. Widmer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An “Exacerbate-reverse” Strategy in Yeast Identifies Histone Deacetylase Inhibition as a Correction for Cholesterol and Sphingolipid Transport Defects in Human Niemann-Pick Type C Disease

(2011) Andrew B. Munkacsi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysosomal Acid Lipase Deficiency Impairs Regulation ofABCA1Gene and Formation of High Density Lipoproteins in Cholesteryl Ester Storage Disease

(2011) Kristin L. Bowden et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysosomal lipase deficiency: Molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease

(2011) Tommaso Fasano et al.   MOLECULAR GENETICS AND METABOLISM

Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease

(2011) J. Lu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts

(2011) N. H. Pipalia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Golgi Glycosylation

(2011) P. Stanley   Cold Spring Harbor Perspectives in Biology

Thiadiazole Carbamates: Potent Inhibitors of Lysosomal Acid Lipase and Potential Niemann−Pick Type C Disease Therapeutics

(2010) Anton I. Rosenbaum et al.   JOURNAL OF MEDICINAL CHEMISTRY

Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches

(2010) Anton I. Rosenbaum et al.   JOURNAL OF NEUROCHEMISTRY

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Endocytosis of beta-cyclodextrins is responsible for cholesterol reduction in Niemann-Pick type C mutant cells

(2010) A. I. Rosenbaum et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of Cellular Metabolism by Protein Lysine Acetylation

(2010) S. Zhao et al.   SCIENCE

Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease

(2010) Emyr Lloyd-Evans et al.   TRAFFIC

Regulation of intermediary metabolism by protein acetylation

(2010) Kun-Liang Guan et al.   TRENDS IN BIOCHEMICAL SCIENCES

Increased Activity and Altered Subcellular Distribution of Lysosomal Enzymes Determine Neuronal Vulnerability in Niemann-Pick Type C1-Deficient Mice

(2009) Asha Amritraj et al.   AMERICAN JOURNAL OF PATHOLOGY

Chemical screen to reduce sterol accumulation in Niemann–Pick C disease cells identifies novel lysosomal acid lipase inhibitors

(2009) Anton I. Rosenbaum et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

(2009) Hyock Joo Kwon et al.   CELL

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

Reduced histone deacetylase 7 activity restores function to misfolded CFTR in cystic fibrosis

(2009) Darren M Hutt et al.   Nature Chemical Biology

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

Relative Quantification of Proteins in Human Cerebrospinal Fluids by MS/MS Using 6-Plex Isobaric Tags

(2008) Loïc Dayon et al.   ANALYTICAL CHEMISTRY

Niemann-Pick Type C1 I1061T Mutant Encodes a Functional Protein That Is Selected for Endoplasmic Reticulum-associated Degradation Due to Protein Misfolding

(2008) Mark E. Gelsthorpe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Structural basis of nucleotide exchange and client binding by the Hsp70 cochaperone Bag2

(2008) Zhen Xu et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

NPC-db, a Niemann-Pick type C disease gene variation database

(2007) Heiko Runz et al.   HUMAN MUTATION