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Search results 1 to 100 out of 500 for Npc1

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Type Details Score
Gene
Type: gene
Organism: Homo sapiens
Gene
Type: gene
Organism: Rattus norvegicus
Gene
Type: gene
Organism: Danio rerio
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus musculus
Publication    
First Author: Saha P
Year: 2020
Journal: Elife
Title: Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins.
Volume: 9
Gene
Type: gene
Organism: Homo sapiens
Publication
First Author: Mitroi DN
Year: 2019
Journal: EMBO Rep
Title: NPC1 enables cholesterol mobilization during long-term potentiation that can be restored in Niemann-Pick disease type C by CYP46A1 activation.
Volume: 20
Issue: 11
Pages: e48143
Publication
First Author: Colombo A
Year: 2021
Journal: Nat Commun
Title: Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia.
Volume: 12
Issue: 1
Pages: 1158
Publication
First Author: Prasad A
Year: 2000
Journal: J Neurochem
Title: Regional and developmental expression of the Npc1 mRNA in the mouse brain.
Volume: 75
Issue: 3
Pages: 1250-7
Publication  
First Author: Boyle BR
Year: 2020
Journal: Development
Title: NPC1 deficiency impairs cerebellar postnatal development of microglia and climbing fiber refinement in a mouse model of Niemann-Pick disease type C.
Volume: 147
Issue: 21
Publication
First Author: Walkley SU
Year: 2004
Journal: Biochim Biophys Acta
Title: Consequences of NPC1 and NPC2 loss of function in mammalian neurons.
Volume: 1685
Issue: 1-3
Pages: 48-62
Publication
First Author: Dixit SS
Year: 2007
Journal: Biochem J
Title: Do mammalian NPC1 and NPC2 play a role in intestinal cholesterol absorption?
Volume: 408
Issue: 1
Pages: 1-5
Publication  
First Author: Liao G
Year: 2015
Journal: Exp Neurol
Title: Enhanced expression of matrix metalloproteinase-12 contributes to Npc1 deficiency-induced axonal degeneration.
Volume: 269
Pages: 67-74
Publication
First Author: Schultz ML
Year: 2018
Journal: Nat Commun
Title: Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD.
Volume: 9
Issue: 1
Pages: 3671
Publication
First Author: Hsu SJ
Year: 2000
Journal: Mamm Genome
Title: Fine linkage and physical mapping suggests cross-over suppression with a retroposon insertion at the npc1 mutation.
Volume: 11
Issue: 9
Pages: 774-8
Publication
First Author: Zhang M
Year: 2008
Journal: J Neurosci Res
Title: Astrocyte-only Npc1 reduces neuronal cholesterol and triples life span of Npc1-/- mice.
Volume: 86
Issue: 13
Pages: 2848-56
Publication  
First Author: Buard I
Year: 2014
Journal: Mol Cell Neurosci
Title: Relevance of neuronal and glial NPC1 for synaptic input to cerebellar Purkinje cells.
Volume: 61
Pages: 65-71
Publication
First Author: Liao G
Year: 2007
Journal: Am J Pathol
Title: Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npc1 -/- mouse brain.
Volume: 171
Issue: 3
Pages: 962-75
Publication
First Author: Yan X
Year: 2014
Journal: Glia
Title: Hyperactive glial cells contribute to axonal pathologies in the spinal cord of Npc1 mutant mice.
Volume: 62
Issue: 7
Pages: 1024-40
Publication
First Author: Jelinek D
Year: 2011
Journal: Hum Mol Genet
Title: Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance.
Volume: 20
Issue: 2
Pages: 312-21
Publication
First Author: Loftus SK
Year: 2002
Journal: Hum Mol Genet
Title: Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene.
Volume: 11
Issue: 24
Pages: 3107-14
Publication
First Author: Yu T
Year: 2011
Journal: Hum Mol Genet
Title: Temporal and cell-specific deletion establishes that neuronal Npc1 deficiency is sufficient to mediate neurodegeneration.
Volume: 20
Issue: 22
Pages: 4440-51
Publication
First Author: Parra J
Year: 2011
Journal: Biochem Biophys Res Commun
Title: Npc1 deficiency in the C57BL/6J genetic background enhances Niemann-Pick disease type C spleen pathology.
Volume: 413
Issue: 3
Pages: 400-6
Publication
First Author: Sleat DE
Year: 2004
Journal: Proc Natl Acad Sci U S A
Title: Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport.
Volume: 101
Issue: 16
Pages: 5886-91
Publication
First Author: Ohsaki Y
Year: 2006
Journal: J Cell Sci
Title: Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4.
Volume: 119
Issue: Pt 13
Pages: 2643-53
Publication
First Author: Houben T
Year: 2019
Journal: Sci Rep
Title: Hematopoietic Npc1 mutation shifts gut microbiota composition in Ldlr-/- mice on a high-fat, high-cholesterol diet.
Volume: 9
Issue: 1
Pages: 14956
Publication
First Author: Yu T
Year: 2013
Journal: PLoS Genet
Title: Npc1 acting in neurons and glia is essential for the formation and maintenance of CNS myelin.
Volume: 9
Issue: 4
Pages: e1003462
Publication
First Author: Xie X
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice.
Volume: 108
Issue: 37
Pages: 15330-5
Publication
First Author: Ebrahimi-Fakhari D
Year: 2016
Journal: Hum Mol Genet
Title: Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
Volume: 25
Issue: 16
Pages: 3588-3599
Publication
First Author: Yu W
Year: 2005
Journal: J Biol Chem
Title: Neurodegeneration in heterozygous Niemann-Pick type C1 (NPC1) mouse: implication of heterozygous NPC1 mutations being a risk for tauopathy.
Volume: 280
Issue: 29
Pages: 27296-302
Publication
First Author: Liu B
Year: 2008
Journal: J Lipid Res
Title: Genetic variations and treatments that affect the lifespan of the NPC1 mouse.
Volume: 49
Issue: 3
Pages: 663-9
Publication
First Author: Hovakimyan M
Year: 2011
Journal: PLoS One
Title: Corneal alterations during combined therapy with cyclodextrin/allopregnanolone and miglustat in a knock-out mouse model of NPC1 disease.
Volume: 6
Issue: 12
Pages: e28418
Publication
First Author: Maulik M
Year: 2015
Journal: Hum Mol Genet
Title: APP overexpression in the absence of NPC1 exacerbates metabolism of amyloidogenic proteins of Alzheimer's disease.
Volume: 24
Issue: 24
Pages: 7132-50
Publication
First Author: Ramirez CM
Year: 2011
Journal: J Lipid Res
Title: Quantitative role of LAL, NPC2, and NPC1 in lysosomal cholesterol processing defined by genetic and pharmacological manipulations.
Volume: 52
Issue: 4
Pages: 688-98
Publication
First Author: Xie C
Year: 2006
Journal: J Lipid Res
Title: Cholesterol substrate pools and steroid hormone levels are normal in the face of mutational inactivation of NPC1 protein.
Volume: 47
Issue: 5
Pages: 953-63
Publication
First Author: Li H
Year: 2008
Journal: J Lipid Res
Title: GM2/GD2 and GM3 gangliosides have no effect on cellular cholesterol pools or turnover in normal or NPC1 mice.
Volume: 49
Issue: 8
Pages: 1816-28
Publication
First Author: Newton J
Year: 2017
Journal: FASEB J
Title: FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.
Volume: 31
Issue: 4
Pages: 1719-1730
Publication
First Author: Repa JJ
Year: 2007
Journal: J Neurosci
Title: Liver X receptor activation enhances cholesterol loss from the brain, decreases neuroinflammation, and increases survival of the NPC1 mouse.
Volume: 27
Issue: 52
Pages: 14470-80
Publication
First Author: Liu B
Year: 2010
Journal: J Lipid Res
Title: Cyclodextrin overcomes the transport defect in nearly every organ of NPC1 mice leading to excretion of sequestered cholesterol as bile acid.
Volume: 51
Issue: 5
Pages: 933-44
Publication
First Author: Garver WS
Year: 1999
Journal: Biochim Biophys Acta
Title: The Npc1 mutation causes an altered expression of caveolin-1, annexin II and protein kinases and phosphorylation of caveolin-1 and annexin II in murine livers.
Volume: 1453
Issue: 2
Pages: 193-206
Publication
First Author: Liu R
Year: 2017
Journal: Diabetes
Title: Rare Loss-of-Function Variants in NPC1 Predispose to Human Obesity.
Volume: 66
Issue: 4
Pages: 935-947
Publication
First Author: Xu S
Year: 2011
Journal: Neurosci Lett
Title: Presynaptic impairment in Niemann-Pick C1-deficient neurons: not dependent on presence of glial cells.
Volume: 496
Issue: 1
Pages: 54-9
Publication
First Author: Karten B
Year: 2005
Journal: Biochem J
Title: Generation and function of astroglial lipoproteins from Niemann-Pick type C1-deficient mice.
Volume: 387
Issue: Pt 3
Pages: 779-88
Publication
First Author: Goldman SD
Year: 2010
Journal: J Biol Chem
Title: Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo.
Volume: 285
Issue: 7
Pages: 4983-94
DO Term
Publication
First Author: Bi X
Year: 2005
Journal: Am J Pathol
Title: Deregulation of the phosphatidylinositol-3 kinase signaling cascade is associated with neurodegeneration in Npc1-/- mouse brain.
Volume: 167
Issue: 4
Pages: 1081-92
Publication  
First Author: Tanaka Y
Year: 2014
Journal: Mol Genet Metab Rep
Title: Influence of Npc1 genotype on the toxicity of hydroxypropyl-β-cyclodextrin, a potentially therapeutic agent, in Niemann-Pick Type C disease models.
Volume: 1
Pages: 19-30
Publication  
First Author: Gómez-Grau M
Year: 2017
Journal: Sci Rep
Title: New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.
Volume: 7
Pages: 41931
Publication
First Author: Kavetsky L
Year: 2019
Journal: Sci Rep
Title: Increased interactions and engulfment of dendrites by microglia precede Purkinje cell degeneration in a mouse model of Niemann Pick Type-C.
Volume: 9
Issue: 1
Pages: 14722
Publication
First Author: Alam MS
Year: 2018
Journal: Sci Rep
Title: Tolerance of chronic HDACi treatment for neurological, visceral and lung Niemann-Pick Type C disease in mice.
Volume: 8
Issue: 1
Pages: 3875
Publication  
First Author: Erickson RP
Year: 2020
Journal: Mitochondrion
Title: Decreased membrane cholesterol in liver mitochondria of the point mutation mouse model of juvenile Niemann-Pick C1, Npc1nmf164.
Volume: 51
Pages: 15-21
Publication  
First Author: Lucarelli M
Year: 2019
Journal: Front Cell Neurosci
Title: Anomalies in Dopamine Transporter Expression and Primary Cilium Distribution in the Dorsal Striatum of a Mouse Model of Niemann-Pick C1 Disease.
Volume: 13
Pages: 226
Publication
First Author: Maue RA
Year: 2012
Journal: Hum Mol Genet
Title: A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.
Volume: 21
Issue: 4
Pages: 730-50
Publication
First Author: Marques AR
Year: 2016
Journal: PLoS One
Title: Gpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C Disease.
Volume: 11
Issue: 1
Pages: e0147208
Publication
First Author: Munkacsi AB
Year: 2017
Journal: J Biol Chem
Title: Normalization of Hepatic Homeostasis in the Npc1nmf164 Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat.
Volume: 292
Issue: 11
Pages: 4395-4410
Publication  
First Author: Oddi S
Year: 2019
Journal: Neurobiol Dis
Title: The endocannabinoid system is affected by cholesterol dyshomeostasis: Insights from a murine model of Niemann Pick type C disease.
Volume: 130
Pages: 104531
Publication
First Author: Erickson RP
Year: 2000
Journal: J Inherit Metab Dis
Title: Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice.
Volume: 23
Issue: 1
Pages: 54-62
Publication
First Author: Deutsch G
Year: 2016
Journal: Gene
Title: Extensive macrophage accumulation in young and old Niemann-Pick C1 model mice involves the alternative, M2, activation pathway and inhibition of macrophage apoptosis.
Volume: 578
Issue: 2
Pages: 242-50
Publication
First Author: Jelinek D
Year: 2015
Journal: Gene
Title: The C57BL/6J Niemann-Pick C1 mouse model with decreased gene dosage is susceptible to increased weight gain when fed a high-fat diet: Confirmation of a gene-diet interaction.
Volume: 568
Issue: 1
Pages: 112-3
Publication
First Author: Alam MS
Year: 2012
Journal: PLoS One
Title: Genomic expression analyses reveal lysosomal, innate immunity proteins, as disease correlates in murine models of a lysosomal storage disorder.
Volume: 7
Issue: 10
Pages: e48273
Publication
First Author: Alam MS
Year: 2014
Journal: J Biol Chem
Title: Plasma signature of neurological disease in the monogenetic disorder Niemann-Pick Type C.
Volume: 289
Issue: 12
Pages: 8051-66
Publication
First Author: Ohara S
Year: 2004
Journal: Brain Res
Title: Degeneration of cholecystokinin-immunoreactive afferents to the VPL thalamus in a mouse model of Niemann-Pick disease type C.
Volume: 1022
Issue: 1-2
Pages: 244-6
Publication
First Author: Loftus SK
Year: 1997
Journal: Science
Title: Murine model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene.
Volume: 277
Issue: 5323
Pages: 232-5
Publication
First Author: Xie C
Year: 2017
Journal: J Lipid Res
Title: AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease.
Volume: 58
Issue: 3
Pages: 512-518
Publication
First Author: Totenhagen JW
Year: 2017
Journal: PLoS One
Title: Quantitative magnetic resonance imaging of brain atrophy in a mouse model of Niemann-Pick type C disease.
Volume: 12
Issue: 5
Pages: e0178179
Publication  
First Author: Avchalumov Y
Year: 2012
Journal: Brain Res
Title: Increased excitability and compromised long-term potentiation in the neocortex of NPC1(-/-) mice.
Volume: 1444
Pages: 20-6
Publication
First Author: Claudepierre T
Year: 2010
Journal: Mol Cell Neurosci
Title: Lack of Niemann-Pick type C1 induces age-related degeneration in the mouse retina.
Volume: 43
Issue: 1
Pages: 164-76
Publication
First Author: Xu S
Year: 2010
Journal: Neuroscience
Title: Defects of synaptic vesicle turnover at excitatory and inhibitory synapses in Niemann-Pick C1-deficient neurons.
Volume: 167
Issue: 3
Pages: 608-20
Publication
First Author: Vivas O
Year: 2019
Journal: Cell Rep
Title: Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability.
Volume: 27
Issue: 9
Pages: 2636-2648.e4
Publication
First Author: Yu W
Year: 2005
Journal: J Biol Chem
Title: Altered cholesterol metabolism in Niemann-Pick type C1 mouse brains affects mitochondrial function.
Volume: 280
Issue: 12
Pages: 11731-9
Publication
First Author: Elrick MJ
Year: 2012
Journal: Hum Mol Genet
Title: Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease.
Volume: 21
Issue: 22
Pages: 4876-87
Publication
First Author: Du X
Year: 2011
Journal: J Cell Biol
Title: A role for oxysterol-binding protein-related protein 5 in endosomal cholesterol trafficking.
Volume: 192
Issue: 1
Pages: 121-35
Publication
First Author: Mutka AL
Year: 2004
Journal: J Biol Chem
Title: Secretion of sterols and the NPC2 protein from primary astrocytes.
Volume: 279
Issue: 47
Pages: 48654-62
Publication
First Author: Karten B
Year: 2006
Journal: J Lipid Res
Title: The Niemann-Pick C1 protein in recycling endosomes of presynaptic nerve terminals.
Volume: 47
Issue: 3
Pages: 504-14
Publication
First Author: Maulik M
Year: 2012
Journal: Hum Mol Genet
Title: Mutant human APP exacerbates pathology in a mouse model of NPC and its reversal by a β-cyclodextrin.
Volume: 21
Issue: 22
Pages: 4857-75
Publication
First Author: Lopez ME
Year: 2011
Journal: J Neurosci
Title: Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder.
Volume: 31
Issue: 12
Pages: 4367-78
Publication
First Author: Peake KB
Year: 2011
Journal: Biochim Biophys Acta
Title: Niemann-Pick Type C1 deficiency in microglia does not cause neuron death in vitro.
Volume: 1812
Issue: 9
Pages: 1121-9
Publication
First Author: Reid PC
Year: 2003
Journal: J Lipid Res
Title: Trafficking defects in endogenously synthesized cholesterol in fibroblasts, macrophages, hepatocytes, and glial cells from Niemann-Pick type C1 mice.
Volume: 44
Issue: 5
Pages: 1010-9
Publication
First Author: Elrick MJ
Year: 2010
Journal: Hum Mol Genet
Title: Conditional Niemann-Pick C mice demonstrate cell autonomous Purkinje cell neurodegeneration.
Volume: 19
Issue: 5
Pages: 837-47
Publication
First Author: Fu R
Year: 2013
Journal: Hum Mol Genet
Title: Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.
Volume: 22
Issue: 17
Pages: 3508-23
Publication  
First Author: Houben T
Year: 2018
Journal: Front Immunol
Title: Pneumococcal Immunization Reduces Neurological and Hepatic Symptoms in a Mouse Model for Niemann-Pick Type C1 Disease.
Volume: 9
Pages: 3089
Publication
First Author: Alvarez AR
Year: 2008
Journal: FASEB J
Title: Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease.
Volume: 22
Issue: 10
Pages: 3617-27
Publication
First Author: Jelinek D
Year: 2013
Journal: Gene
Title: The C57BL/6J Niemann-Pick C1 mouse model with decreased gene dosage has impaired glucose tolerance independent of body weight.
Volume: 527
Issue: 1
Pages: 65-70
Publication
First Author: Hawes CM
Year: 2010
Journal: J Neurochem
Title: Pre-synaptic defects of NPC1-deficient hippocampal neurons are not directly related to plasma membrane cholesterol.
Volume: 114
Issue: 1
Pages: 311-22
Publication
First Author: Praggastis M
Year: 2015
Journal: J Neurosci
Title: A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
Volume: 35
Issue: 21
Pages: 8091-106
Publication
First Author: Castillo JJ
Year: 2017
Journal: Am J Physiol Endocrinol Metab
Title: The Niemann-Pick C1 gene interacts with a high-fat diet to promote weight gain through differential regulation of central energy metabolism pathways.
Volume: 313
Issue: 2
Pages: E183-E194
Publication
First Author: Yévenes LF
Year: 2012
Journal: Biochim Biophys Acta
Title: Lysosomal vitamin E accumulation in Niemann-Pick type C disease.
Volume: 1822
Issue: 2
Pages: 150-60
Publication
First Author: Carette JE
Year: 2011
Journal: Nature
Title: Ebola virus entry requires the cholesterol transporter Niemann-Pick C1.
Volume: 477
Issue: 7364
Pages: 340-3
Publication
First Author: Porter FD
Year: 2010
Journal: Sci Transl Med
Title: Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease.
Volume: 2
Issue: 56
Pages: 56ra81
Publication
First Author: Kodam A
Year: 2010
Journal: Glia
Title: Altered levels and distribution of amyloid precursor protein and its processing enzymes in Niemann-Pick type C1-deficient mouse brains.
Volume: 58
Issue: 11
Pages: 1267-81
Publication
First Author: Speak AO
Year: 2014
Journal: Blood
Title: Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.
Volume: 123
Issue: 1
Pages: 51-60
Publication
First Author: Kennedy BE
Year: 2016
Journal: Am J Pathol
Title: Presymptomatic Alterations in Amino Acid Metabolism and DNA Methylation in the Cerebellum of a Murine Model of Niemann-Pick Type C Disease.
Volume: 186
Issue: 6
Pages: 1582-97
Publication
First Author: Fan J
Year: 2006
Journal: Mol Reprod Dev
Title: Sperm defects in mice lacking a functional Niemann-Pick C1 protein.
Volume: 73
Issue: 10
Pages: 1284-91
Publication
First Author: Chen G
Year: 2007
Journal: Glia
Title: Decreased estradiol release from astrocytes contributes to the neurodegeneration in a mouse model of Niemann-Pick disease type C.
Volume: 55
Issue: 15
Pages: 1509-18
Publication
First Author: Tobias F
Year: 2018
Journal: J Lipid Res
Title: Mass spectrometry imaging of lipids: untargeted consensus spectra reveal spatial distributions in Niemann-Pick disease type C1.
Volume: 59
Issue: 12
Pages: 2446-2455
Publication
First Author: Deisz RA
Year: 2005
Journal: Neuroscience
Title: Pathological cholesterol metabolism fails to modify electrophysiological properties of afflicted neurones in Niemann-Pick disease type C.
Volume: 130
Issue: 4
Pages: 867-73
Publication
First Author: Abi-Mosleh L
Year: 2009
Journal: Proc Natl Acad Sci U S A
Title: Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport of cholesterol in Niemann-Pick type C cells.
Volume: 106
Issue: 46
Pages: 19316-21
Publication
First Author: Hughes MP
Year: 2018
Journal: Hum Mol Genet
Title: AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease.
Volume: 27
Issue: 17
Pages: 3079-3098
Publication
First Author: Amritraj A
Year: 2009
Journal: Am J Pathol
Title: Increased activity and altered subcellular distribution of lysosomal enzymes determine neuronal vulnerability in Niemann-Pick type C1-deficient mice.
Volume: 175
Issue: 6
Pages: 2540-56
Publication
First Author: Amigo L
Year: 2002
Journal: Hepatology
Title: Relevance of Niemann-Pick type C1 protein expression in controlling plasma cholesterol and biliary lipid secretion in mice.
Volume: 36
Issue: 4 Pt 1
Pages: 819-28