Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling.

PubWeight™: 1.37‹?› | Rank: Top 10%

🔗 View Article (PMC 1762405)

Published in PLoS One on December 20, 2006

Authors

Jonathan V Reddy1, Ian G Ganley, Suzanne R Pfeffer

Author Affiliations

1: Department of Biochemistry, Stanford University School of Medicine, California, United States of America. pffeffer@stanford.edu

Articles citing this

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med (2010) 3.42

Common and uncommon pathogenic cascades in lysosomal storage diseases. J Biol Chem (2010) 1.85

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res (2011) 1.76

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone. J Cell Mol Med (2008) 1.33

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. Hum Mol Genet (2012) 1.10

Neuronal loss of Drosophila NPC1a causes cholesterol aggregation and age-progressive neurodegeneration. J Neurosci (2008) 1.04

Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. PLoS One (2012) 1.00

Alteration of gene expression profile in Niemann-Pick type C mice correlates with tissue damage and oxidative stress. PLoS One (2011) 1.00

Genetic connections between neurological disorders and cholesterol metabolism. J Lipid Res (2010) 0.98

Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice. Proc Natl Acad Sci U S A (2011) 0.97

Identification of novel genes and pathways regulating SREBP transcriptional activity. PLoS One (2009) 0.97

In vivo antisense oligonucleotide reduction of NPC1 expression as a novel mouse model for Niemann Pick type C- associated liver disease. Hepatology (2008) 0.96

Aberrant Ca2+ handling in lysosomal storage disorders. Cell Calcium (2010) 0.91

Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type C. Dis Model Mech (2013) 0.91

Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. J Inherit Metab Dis (2013) 0.91

Abnormal gene expression in cerebellum of Npc1-/- mice during postnatal development. Brain Res (2010) 0.90

Glycosylation inhibition reduces cholesterol accumulation in NPC1 protein-deficient cells. Proc Natl Acad Sci U S A (2015) 0.90

Oxidative stress: a pathogenic mechanism for Niemann-Pick type C disease. Oxid Med Cell Longev (2012) 0.90

Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. J Lipid Res (2015) 0.86

Altered vitamin E status in Niemann-Pick type C disease. J Lipid Res (2011) 0.84

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype. JIMD Rep (2015) 0.84

Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult. Front Neurol (2017) 0.84

Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice. BMC Neurosci (2008) 0.83

Plasma signature of neurological disease in the monogenetic disorder Niemann-Pick Type C. J Biol Chem (2014) 0.83

Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. Hum Mol Genet (2013) 0.83

Pre-symptomatic activation of antioxidant responses and alterations in glucose and pyruvate metabolism in Niemann-Pick Type C1-deficient murine brain. PLoS One (2013) 0.82

Genomic expression analyses reveal lysosomal, innate immunity proteins, as disease correlates in murine models of a lysosomal storage disorder. PLoS One (2012) 0.82

Quantitative Proteomics of Human Fibroblasts with I1061T Mutation in Niemann-Pick C1 (NPC1) Protein Provides Insights into the Disease Pathogenesis. Mol Cell Proteomics (2015) 0.81

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease. Ther Adv Neurol Disord (2016) 0.80

Niemann-Pick type C disease proteins: orphan transporters or membrane rheostats? Future Lipidol (2007) 0.78

Rescue of an in vitro neuron phenotype identified in Niemann-Pick disease, type C1 induced pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signaling. Stem Cells Transl Med (2015) 0.78

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism. J Lipid Res (2016) 0.77

Sphingolipid signalling mediates mitochondrial dysfunctions and reduced chronological lifespan in the yeast model of Niemann-Pick type C1. Mol Microbiol (2013) 0.77

Altered transition metal homeostasis in Niemann-Pick disease, type C1. Metallomics (2013) 0.76

Alterations in gene expression in mutant amyloid precursor protein transgenic mice lacking Niemann-Pick type C1 protein. PLoS One (2013) 0.76

miRNA Targeting of Oxysterol-Binding Protein-Like 6 Regulates Cholesterol Trafficking and Efflux. Arterioscler Thromb Vasc Biol (2016) 0.75

Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. Mol Psychiatry (2016) 0.75

Analytical Characterization of Methyl-β-Cyclodextrin for Pharmacological Activity to Reduce Lysosomal Cholesterol Accumulation in Niemann-Pick Disease Type C1 Cells. Assay Drug Dev Technol (2017) 0.75

Articles cited by this

Cluster analysis and display of genome-wide expression patterns. Proc Natl Acad Sci U S A (1998) 192.97

Significance analysis of microarrays applied to the ionizing radiation response. Proc Natl Acad Sci U S A (2001) 132.88

Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling. Nature (2000) 64.32

SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver. J Clin Invest (2002) 21.08

NOX enzymes and the biology of reactive oxygen. Nat Rev Immunol (2004) 12.93

The Stanford Microarray Database. Nucleic Acids Res (2001) 7.77

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science (1997) 6.66

Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption. Science (2004) 6.19

Role of cholesterol and lipid organization in disease. Nature (2005) 5.07

Oxidative stress in neurodegeneration: cause or consequence? Nat Med (2004) 4.72

Copper, iron and zinc in Alzheimer's disease senile plaques. J Neurol Sci (1998) 4.19

beta-Amyloid peptides destabilize calcium homeostasis and render human cortical neurons vulnerable to excitotoxicity. J Neurosci (1992) 4.10

Calcium dyshomeostasis and intracellular signalling in Alzheimer's disease. Nat Rev Neurosci (2002) 3.84

Sterol resistance in CHO cells traced to point mutation in SREBP cleavage-activating protein. Cell (1996) 3.78

Niemann-Pick disease type C. Clin Genet (2003) 3.64

Iron accumulation in Alzheimer disease is a source of redox-generated free radicals. Proc Natl Acad Sci U S A (1997) 3.47

Axonal transport of amyloid precursor protein is mediated by direct binding to the kinesin light chain subunit of kinesin-I. Neuron (2000) 2.94

Regulation of cholesterol and sphingomyelin metabolism by amyloid-beta and presenilin. Nat Cell Biol (2005) 2.91

Increased neuronal endocytosis and protease delivery to early endosomes in sporadic Alzheimer's disease: neuropathologic evidence for a mechanism of increased beta-amyloidogenesis. J Neurosci (1997) 2.55

Giant multilevel cation channels formed by Alzheimer disease amyloid beta-protein [A beta P-(1-40)] in bilayer membranes. Proc Natl Acad Sci U S A (1993) 2.41

Accelerated degradation of HMG CoA reductase mediated by binding of insig-1 to its sterol-sensing domain. Mol Cell (2003) 2.40

Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. Bioessays (2004) 2.40

Low density lipoprotein (LDL)-mediated suppression of cholesterol synthesis and LDL uptake is defective in Niemann-Pick type C fibroblasts. J Biol Chem (1987) 1.92

Dynamic movements of organelles containing Niemann-Pick C1 protein: NPC1 involvement in late endocytic events. Mol Biol Cell (2001) 1.87

Binding between the Niemann-Pick C1 protein and a photoactivatable cholesterol analog requires a functional sterol-sensing domain. Proc Natl Acad Sci U S A (2004) 1.82

NPC1 and NPC2 regulate cellular cholesterol homeostasis through generation of low density lipoprotein cholesterol-derived oxysterols. J Biol Chem (2003) 1.69

Phosphorylation sites on tau identified by nanoelectrospray mass spectrometry: differences in vitro between the mitogen-activated protein kinases ERK2, c-Jun N-terminal kinase and P38, and glycogen synthase kinase-3beta. J Neurochem (2000) 1.65

Storage solutions: treating lysosomal disorders of the brain. Nat Rev Neurosci (2005) 1.65

Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype. Am J Hum Genet (1999) 1.57

Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat (2003) 1.54

Inhibition of intracellular cholesterol transport alters presenilin localization and amyloid precursor protein processing in neuronal cells. J Neurosci (2002) 1.52

Calcium, mitochondria and oxidative stress in neuronal pathology. Novel aspects of an enduring theme. FEBS J (2006) 1.46

Intracellular accumulation of amyloidogenic fragments of amyloid-beta precursor protein in neurons with Niemann-Pick type C defects is associated with endosomal abnormalities. Am J Pathol (2004) 1.43

Mutations in the sterol-sensing domain of Patched suggest a role for vesicular trafficking in Smoothened regulation. Curr Biol (2001) 1.41

Impaired ABCA1-dependent lipid efflux and hypoalphalipoproteinemia in human Niemann-Pick type C disease. J Biol Chem (2003) 1.40

Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease. Proc Natl Acad Sci U S A (2001) 1.37

Presenilin redistribution associated with aberrant cholesterol transport enhances beta-amyloid production in vivo. J Neurosci (2003) 1.36

Rapid endocytosis of the low density lipoprotein receptor-related protein modulates cell surface distribution and processing of the beta-amyloid precursor protein. J Biol Chem (2005) 1.36

Cholesterol accumulation sequesters Rab9 and disrupts late endosome function in NPC1-deficient cells. J Biol Chem (2006) 1.31

Oxysterol binding proteins: in more than one place at one time? Biochem Cell Biol (2004) 1.29

Coordinated transport of phosphorylated amyloid-beta precursor protein and c-Jun NH2-terminal kinase-interacting protein-1. J Cell Biol (2005) 1.28

Transglutaminase activity is increased in Alzheimer's disease brain. Brain Res (1997) 1.24

Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease. Acta Neuropathol (1995) 1.23

The pathophysiology and mechanisms of NP-C disease. Biochim Biophys Acta (2004) 1.23

Association of a novel human FE65-like protein with the cytoplasmic domain of the beta-amyloid precursor protein. Proc Natl Acad Sci U S A (1996) 1.22

Amyloid beta protein potentiates Ca2+ influx through L-type voltage-sensitive Ca2+ channels: a possible involvement of free radicals. J Neurochem (1997) 1.21

The sterol-sensing domain of Patched protein seems to control Smoothened activity through Patched vesicular trafficking. Curr Biol (2001) 1.20

Inhibition of cathepsin B reduces beta-amyloid production in regulated secretory vesicles of neuronal chromaffin cells: evidence for cathepsin B as a candidate beta-secretase of Alzheimer's disease. Biol Chem (2005) 1.16

Generation of the beta-amyloid peptide and the amyloid precursor protein C-terminal fragment gamma are potentiated by FE65L1. J Biol Chem (2003) 1.12

Accumulation and aggregation of amyloid beta-protein in late endosomes of Niemann-pick type C cells. J Biol Chem (2000) 1.09

Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein. J Biol Chem (2003) 1.06

Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. Hum Mol Genet (2003) 1.05

Activation of the L voltage-sensitive calcium channel by mitogen-activated protein (MAP) kinase following exposure of neuronal cells to beta-amyloid. MAP kinase mediates beta-amyloid-induced neurodegeneration. J Biol Chem (1999) 1.05

Tau-tubulin kinase phosphorylates tau at Ser-208 and Ser-210, sites found in paired helical filament-tau. FEBS Lett (2001) 0.98

Microtubule-associated protein tau is phosphorylated by protein kinase C on its tubulin binding domain. J Biol Chem (1992) 0.98

NPC2 is expressed in human and murine liver and secreted into bile: potential implications for body cholesterol homeostasis. Hepatology (2006) 0.97

Synaptophysin and chromogranin A immunoreactivities in senile plaques of Alzheimer's disease. Brain Res (1991) 0.90

The association of tissue transglutaminase with human recombinant tau results in the formation of insoluble filamentous structures. Brain Res (1997) 0.82

Synergistic amplification of beta-amyloid- and interferon-gamma-induced microglial neurotoxic response by the senile plaque component chromogranin A. Am J Physiol Cell Physiol (2004) 0.81

Ca2+ and Mg2+ selectively induce aggregates of PHF-tau but not normal human tau. J Neurosci Res (1999) 0.79

Articles by these authors

Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08

Visualization of Rab9-mediated vesicle transport from endosomes to the trans-Golgi in living cells. J Cell Biol (2002) 3.03

Journeys through the Golgi--taking stock in a new era. J Cell Biol (2009) 2.30

Yip3 catalyses the dissociation of endosomal Rab-GDI complexes. Nature (2003) 2.15

Rab and Arl GTPase family members cooperate in the localization of the golgin GCC185. Cell (2008) 2.09

Ebola virus entry requires the host-programmed recognition of an intracellular receptor. EMBO J (2012) 2.08

The ULK1 complex: sensing nutrient signals for autophagy activation. Autophagy (2013) 1.71

A syntaxin 10-SNARE complex distinguishes two distinct transport routes from endosomes to the trans-Golgi in human cells. J Cell Biol (2008) 1.63

A functional role for the GCC185 golgin in mannose 6-phosphate receptor recycling. Mol Biol Cell (2006) 1.54

Multiple Rab GTPase binding sites in GCC185 suggest a model for vesicle tethering at the trans-Golgi. Mol Biol Cell (2008) 1.43

TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication. J Biol Chem (2007) 1.36

Niemann-Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding. Proc Natl Acad Sci U S A (2011) 1.35

Loss of iron triggers PINK1/Parkin-independent mitophagy. EMBO Rep (2013) 1.34

Cholesterol accumulation sequesters Rab9 and disrupts late endosome function in NPC1-deficient cells. J Biol Chem (2006) 1.31

RUTBC1 protein, a Rab9A effector that activates GTP hydrolysis by Rab32 and Rab33B proteins. J Biol Chem (2011) 1.25

RhoBTB3: a Rho GTPase-family ATPase required for endosome to Golgi transport. Cell (2009) 1.23

Defining the boundaries: Rab GEFs and GAPs. Proc Natl Acad Sci U S A (2009) 1.01

Coibamide A induces mTOR-independent autophagy and cell death in human glioblastoma cells. PLoS One (2013) 1.01

Identification of residues in TIP47 essential for Rab9 binding. Proc Natl Acad Sci U S A (2002) 0.98

Ric1-Rgp1 complex is a guanine nucleotide exchange factor for the late Golgi Rab6A GTPase and an effector of the medial Golgi Rab33B GTPase. J Biol Chem (2012) 0.97

Self-assembly is important for TIP47 function in mannose 6-phosphate receptor transport. Traffic (2003) 0.97

RUTBC2 protein, a Rab9A effector and GTPase-activating protein for Rab36. J Biol Chem (2012) 0.93

An update on transport vesicle tethering. Mol Membr Biol (2010) 0.91

GCC185 plays independent roles in Golgi structure maintenance and AP-1-mediated vesicle tethering. J Cell Biol (2011) 0.91

Association of beta-1,3-N-acetylglucosaminyltransferase 1 and beta-1,4-galactosyltransferase 1, trans-Golgi enzymes involved in coupled poly-N-acetyllactosamine synthesis. Glycobiology (2009) 0.90

TBC1D16 is a Rab4A GTPase activating protein that regulates receptor recycling and EGF receptor signaling. Proc Natl Acad Sci U S A (2012) 0.88

In vitro selection and prediction of TIP47 protein-interaction interfaces. Nat Methods (2004) 0.88

Golgi-associated RhoBTB3 targets cyclin E for ubiquitylation and promotes cell cycle progression. J Cell Biol (2013) 0.88

Dysregulation of autophagy in chronic lymphocytic leukemia with the small-molecule Sirtuin inhibitor Tenovin-6. Sci Rep (2013) 0.85

Two Rabs for exosome release. Nat Cell Biol (2010) 0.81

WHAMMing into the Golgi. Dev Cell (2008) 0.79

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module. Hum Mol Genet (2012) 0.78

Pharmacological inhibition of ULK1 kinase blocks mammalian target of rapamycin (mTOR)-dependent autophagy. J Biol Chem (2015) 0.77

Membrane traffic. Curr Opin Cell Biol (2010) 0.76

Molecular and cellular characterization of GCC185: a tethering protein of the trans-Golgi network. Methods Mol Biol (2015) 0.76

Mutant enzymes challenge all assumptions. Elife (2014) 0.76

Measuring Rab GTPase-activating protein (GAP) activity in live cells and extracts. Methods Mol Biol (2015) 0.75

Team effort by TRAPP forces a nucleotide fumble. Cell (2008) 0.75

Misincorporation proton-alkyl exchange (MPAX): engineering cysteine probes into proteins. Curr Protoc Protein Sci (2005) 0.75