- Home
- Publications
- Publication Search
- Publication Details
Title
Complex lipid trafficking in Niemann-Pick disease type C
Authors
Keywords
Sphingosine, Miglustat, Sphinganine, Unesterified Cholesterol, Acid Sphingomyelinase
Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 38, Issue 1, Pages 187-199
Publisher
Springer Nature
Online
2014-12-01
DOI
10.1007/s10545-014-9794-4
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Disorders of Cholesterol Metabolism and Their Unanticipated Convergent Mechanisms of Disease
- (2014) Frances M. Platt et al. Annual Review of Genomics and Human Genetics
- Restarting stalled autophagy a potential therapeutic approach for the lipid storage disorder, Niemann-Pick type C1 disease
- (2014) Sovan Sarkar et al. Autophagy
- 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
- 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
- Development and validation of sensitive LC-MS/MS assays for quantification of HP-β-CD in human plasma and CSF
- (2014) Hui Jiang et al. JOURNAL OF LIPID RESEARCH
- On the formation of 7-ketocholesterol from 7-dehydrocholesterol in patients with CTX and SLO
- (2014) Ingemar Björkhem et al. JOURNAL OF LIPID RESEARCH
- Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin
- (2014) Jean E. Vance et al. JOURNAL OF LIPID RESEARCH
- Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients
- (2014) Huiwen Zhang et al. Orphanet Journal of Rare Diseases
- Genetic and Chemical Correction of Cholesterol Accumulation and Impaired Autophagy in Hepatic and Neural Cells Derived from Niemann-Pick Type C Patient-Specific iPS Cells
- (2014) Dorothea Maetzel et al. Stem Cell Reports
- Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
- (2013) James E. Wraith et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Cholesterol-binding molecules MLN64 and ORP1L mark distinct late endosomes with transporters ABCA3 and NPC1
- (2013) Rik van der Kant et al. JOURNAL OF LIPID RESEARCH
- Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling
- (2013) Martin Fan et al. JOURNAL OF LIPID RESEARCH
- 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
- A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient’s skin
- (2013) Natascha Bergamin et al. Orphanet Journal of Rare Diseases
- Disease and patient characteristics in NP-C patients: findings from an international disease registry
- (2013) Marc C Patterson et al. Orphanet Journal of Rare Diseases
- The Cytosolic Adaptor AP-1A Is Essential for the Trafficking and Function of Niemann-Pick Type C Proteins
- (2013) Steve Poirier et al. TRAFFIC
- Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease
- (2013) Sovan Sarkar et al. Cell Reports
- Npc1 Acting in Neurons and Glia Is Essential for the Formation and Maintenance of CNS Myelin
- (2013) Ting Yu et al. PLoS Genetics
- Autophagy in lysosomal storage disorders
- (2012) Andrew P. Lieberman et al. Autophagy
- Autophagic dysfunction in a lysosomal storage disorder due to impaired proteolysis
- (2012) Matthew J. Elrick et al. Autophagy
- Dysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseases
- (2012) J. E. Vance Disease Models & Mechanisms
- Ebola virus entry requires the host-programmed recognition of an intracellular receptor
- (2012) Emily Happy Miller et al. EMBO JOURNAL
- Niemann-Pick Type C2 protein contributes to the transport of endosomal cholesterol to mitochondria without interacting with NPC1
- (2012) Barry E. Kennedy et al. JOURNAL OF LIPID RESEARCH
- Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C
- (2012) Veronika M. Stein et al. JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
- Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update
- (2012) Marc C. Patterson et al. MOLECULAR GENETICS AND METABOLISM
- Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
- (2012) Saskia B Wortmann et al. NATURE GENETICS
- Proteomic analysis of mouse models of Niemann-Pick C disease reveals alterations in the steady-state levels of lysosomal proteins within the brain
- (2012) David E. Sleat et al. PROTEOMICS
- Tracking Sphingosine Metabolism and Transport in Sphingolipidoses: NPC1 Deficiency as a Test Case
- (2012) Tomas Blom et al. TRAFFIC
- Endosomal/Lysosomal Processing of Gangliosides Affects Neuronal Cholesterol Sequestration in Niemann-Pick Disease Type C
- (2011) Sharon Zhou et al. AMERICAN JOURNAL OF PATHOLOGY
- Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration
- (2011) Ting Yu et al. HUMAN MOLECULAR GENETICS
- A novel mouse model of Niemann–Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations
- (2011) Robert A. Maue et al. HUMAN MOLECULAR GENETICS
- Regulation of the NPC2 protein-mediated cholesterol trafficking by membrane lipids
- (2011) Hichem D. Gallala et al. JOURNAL OF NEUROCHEMISTRY
- Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice
- (2011) Maria Dolores Ledesma et al. JOURNAL OF NEUROCHEMISTRY
- Anatomically Defined Neuron-Based Rescue of Neurodegenerative Niemann-Pick Type C Disorder
- (2011) M. E. Lopez et al. JOURNAL OF NEUROSCIENCE
- Unesterified Cholesterol Accumulation in Late Endosomes/Lysosomes Causes Neurodegeneration and Is Prevented by Driving Cholesterol Export from This Compartment
- (2011) A. Aqul et al. JOURNAL OF NEUROSCIENCE
- Intrathecal cyclodextrin therapy of feline Niemann-Pick Type C disease
- (2011) Charles Vite et al. MOLECULAR GENETICS AND METABOLISM
- 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
- Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding
- (2011) M. S. Deffieu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Identification of Surface Residues on Niemann-Pick C2 Essential for Hydrophobic Handoff of Cholesterol to NPC1 in Lysosomes
- (2010) Michael L. Wang et al. Cell Metabolism
- Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients
- (2010) Marie T. Vanier et al. CLINICAL GENETICS
- Niemann-Pick disease type C
- (2010) Marie T Vanier Orphanet Journal of Rare Diseases
- Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease
- (2010) F. D. Porter et al. Science Translational Medicine
- Improvement in Lipid and Protein Trafficking in Niemann-Pick C1 Cells by Correction of a Secondary Enzyme Defect
- (2010) Cecilia Devlin et al. TRAFFIC
- Niemann–Pick C2 (NPC2) and intracellular cholesterol trafficking
- (2009) Judith Storch 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
- Lysosomal degradation of membrane lipids
- (2009) Thomas Kolter et al. FEBS LETTERS
- Niemann-Pick C1 Functions Independently of Niemann-Pick C2 in the Initial Stage of Retrograde Transport of Membrane-impermeable Lysosomal Cargo
- (2009) Stephen D. B. Goldman et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- 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
- Secondary lipid accumulation in lysosomal disease
- (2008) Steven U. Walkley et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment
- (2008) Marc Walter et al. BIOLOGY OF THE CELL
- 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
- Lysobisphosphatidic Acid Controls Endosomal Cholesterol Levels
- (2008) Julien Chevallier et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- GM2/GD2 and GM3 gangliosides have no effect on cellular cholesterol pools or turnover in normal or NPC1 mice
- (2008) Hao Li et al. JOURNAL OF LIPID RESEARCH
- Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
- (2008) Emyr Lloyd-Evans et al. NATURE MEDICINE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started