161 results on '"Pentchev, Peter G."'
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2. Localization of Niemann-Pick C1 Protein in Astrocytes: Implications for Neuronal Degeneration in Niemann-Pick Type C Disease
3. Niemann-Pick C1 Protein: Obligatory Roles for N-Terminal Domains and Lysosomal Targeting in Cholesterol Mobilization
4. Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
5. Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene
6. Substantial Narrowing of the Niemann-Pick C Candidate Interval by Yeast Artificial Chromosome Complementation
7. Fitting a Mathematical Model to Biological Data: Intracellular Trafficking in Niemann-Pick C Disease
8. Cholesterol Distribution in Golgi, Lysosomes and Endoplasmic Reticulum
9. Biological Implications of the Niemann-Pick C Mutation
10. Enzyme Replacement Therapy in Gaucher's Disease: Large-Scale Purification of Glucocerebrosidase Suitable for Human Administration
11. Gaucher Disease: Isolation and Comparison of Normal and Mutant Glucocerebrosidase from Human Spleen Tissue
12. Modification of the Blood--Brain Barrier: Increased Concentration and Fate of Enzymes Entering the Brain
13. L-Glucosylceramide: Synthesis, Properties, and Resistance to Catabolism by Glucocerebrosidase in vitro
14. Niemann-Pick Variant Disorders: Comparison of Errors of Cellular Cholesterol Homeostasis in Group D and Group C Fibroblasts
15. A Defect in Cholesterol Esterification in Niemann--Pick Disease (Type C) Patients
16. Type-C Niemann-Pick Disease: Low Density Lipoprotein Uptake is Associated with Premature Cholesterol Accumulation in the Golgi Complex and Excessive Cholesterol Storage in Lysosomes
17. Cholesterol Deprivation Affects the Fluorescence Properties of a Ceramide Analog at the Golgi Apparatus of Living Cells
18. NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
19. Niemann-Pick C1 Disease: The 11061T Substitution Is a Frequent Mutant Allele in Patients of Western European Descent and Correlates with a Classic Juvenile Phenotype
20. Cholesterol balance and metabolism in mice with loss of function of Niemann-Pick C protein
21. Peripheral nerve pathology in Niemann-Pick type C mouse
22. Neurofibrillary tangles in Niemann-Pick disease type C
23. Linkage of Niemann-Pick Disease Type C to Human Chromosome 18
24. Niemann-Pick Disease Experimental Model: Sphingomyelinase Reduction Induced by AY-9944
25. Storage of glycoprotein in NCTR-Balb/C mouse: Lectin histochemistry, and biochemical studies
26. Biological Implications of the Niemann-Pick C Mutation
27. Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts
28. Spreading the Wealth: Niemann-Pick Type C Proteins Bind and Transport Cholesterol
29. Sphingomyelinase and Niemann-Pick Disease
30. Abnormal Cholesterol Metabolism in Primary Brain Cultures of the Lysosomal Cholesterol Storage Disorder (LCSD) Murine Mutant
31. Pathophysiological Approach of Niemann-Pick Disease Type C: Definition of a Biochemical Heterogeneity and Reevaluation of the Lipid Storage Process
32. Cyclopamine Inhibition of Sonic Hedgehog Signal Transduction Is Not Mediated through Effects on Cholesterol Transport
33. [56] Glucocerebrosidase from human placenta
34. Sugar Transport Systems and the Evolution of Mutarotases
35. Cultured Skin Fibroblasts Derived from Patients with Mucolipidosis 4 Are Auto-Fluorescent
36. Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients
37. Niemann–Pick C research from mouse to gene
38. Sterol-modulated Glycolipid Sorting Occurs in Niemann-Pick C1 Late Endosomes
39. Determinants of NPC1 Expression and Action: Key Promoter Regions, Posttranscriptional Control, and the Importance of a “Cysteine-Rich” Loop
40. NPC1-Containing Compartment of Human Granulosa-Lutein Cells: A Role in the Intracellular Trafficking of Cholesterol Supporting Steroidogenesis
41. 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
42. The Genomic Organization and Polymorphism Analysis of the Human Niemann-Pick C1 Gene
43. Mutations in the Leucine Zipper Motif and Sterol-sensing Domain Inactivate the Niemann-Pick C1 Glycoprotein
44. The Niemann-Pick C1 Protein Resides in a Vesicular Compartment Linked to Retrograde Transport of Multiple Lysosomal Cargo
45. Infrared Spectroscopic Imaging of the Biochemical Modifications Induced in the Cerebellum of the Niemann–Pick type C Mouse
46. Neurochemical alterations in the cerebellum of a murine model of Niemann–Pick type C disease
47. Cholesterol reutilization during myelination of regenerating PNS axons is impaired in Niemann-Pick disease type C mice
48. Molecular Cloning of the Mouse Apolipoprotein D Gene and Its Upregulated Expression in Niemann-Pick Disease Type C Mouse Model
49. Intracellular Trafficking of Cholesterol Monitored with a Cyclodextrin
50. Niemann-Pick; Type C
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