AuthorProfile for Joanna P. Davies

Mutation analysis in patients with the typical form of Anderson-Fabry disease.
  J. P. Davies    
Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.
  J. Davies      
Cloning and mapping of human Rab7 and Rab9 cDNA sequences and identification of a Rab9 pseudogene.
  J. P. Davies    
Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.
            J. Davies    
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.
        J. Davies            
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
  J. P. Davies            
Differential gene expression in apoptosis: identification of ribosomal protein 23K, a cell proliferation inhibitor.
    J. P. Davies  
Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating protein.
  J. P. Davies  
Accumulation of cholera toxin and GM1 ganglioside in the early endosome of Niemann-Pick C1-deficient cells.
          J. P. Davies    
Reduced absorption of saturated fatty acids and resistance to diet-induced obesity and diabetes by ezetimibe-treated and Npc1l1-/- mice.
            Joanna P. Davies     Patrick Tso    
Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1.
  J. P. Davies    
Targeting of NPC1 to late endosomes involves multiple signals, including one residing within the putative sterol-sensing domain.
  Catherine Scott     Joanna P. Davies  
The role of the Niemann-Pick C1-like 1 protein in the subcellular transport of multiple lipids and their homeostasis.
  Joanna P. Davies  
Class B type I scavenger receptor is responsible for the high affinity cholesterol binding activity of intestinal brush border membrane vesicles.
          Joanna P. Davies    
Endosomal accumulation of Toll-like receptor 4 causes constitutive secretion of cytokines and activation of signal transducers and activators of transcription in Niemann-Pick disease type C (NPC) fibroblasts: a potential basis for glial cell activation in the NPC brain.
  Michitaka Suzuki     Yuki Ohsaki   Makoto Ueno   Shinsuke Kato       Joanna P. Davies       Kousaku Ohno   Haruaki Ninomiya
Multiple plasma membrane receptors but not NPC1L1 mediate high-affinity, ezetimibe-sensitive cholesterol uptake into the intestinal brush border membrane.
    Joanna P. Davies     Lisbet Kvaernø         Helmut Hauser
Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network.
    J. P. Davies    
Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia.
  Joanna P. Davies   Catherine Scott   Kimihiko Oishi    
Transmembrane molecular pump activity of Niemann-Pick C1 protein.
  J. P. Davies    
Cholesterol depletion facilitates ubiquitylation of NPC1 and its association with SKD1/Vps4.
  Yuki Ohsaki     Michitaka Suzuki     Tamotsu Yoshimori   Joanna P. Davies       Kousaku Ohno   Haruaki Ninomiya
Genetic inactivation of NPC1L1 protects against sitosterolemia in mice lacking ABCG5/ABCG8.
  Weiqing Tang   Yinyan Ma   Lin Jia     Joanna P. Davies   Liqing Yu
Diosgenin stimulation of fecal cholesterol excretion in mice is not NPC1L1 dependent.
      Yinyan Ma   Weiqing Tang       Joanna P. Davies   Liqing Yu
Hepatic Niemann-Pick C1-like 1 regulates biliary cholesterol concentration and is a target of ezetimibe.
    Weiqing Tang   Yinyan Ma         Joanna P. Davies     Liqing Yu
Reduced sensitivity of Niemann-Pick C1-deficient cells to theta-toxin (perfringolysin O): sequestration of toxin to raft-enriched membrane vesicles.
  Yuki Ohsaki     Michitaka Suzuki     Yukiko Shimada     Joanna P. Davies     Kousaku Ohno   Haruaki Ninomiya
Niemann-Pick C1-like 1 is required for an LXR agonist to raise plasma HDL cholesterol in mice.
  Weiqing Tang   Yinyan Ma   Lin Jia     Joanna P. Davies   Liqing Yu
Telomerase immortalization upregulates Rab9 expression and restores LDL cholesterol egress from Niemann-Pick C1 late endosomes.
  Marc Walter   Joanna P. Davies  
Sequence variations in the first exon of alpha-galactosidase A.
  J. P. Davies    
This service is maintained by James R. Griffin III and Thomas Krichel