Permeability barrier disorder in Niemann-Pick disease: Sphingomyelin-ceramide processing required for normal barrier homeostasis

Journal of Investigative Dermatology

Volumn 115, Issue 3, 2000, Pages 459-466

  Schmuth, Matthias ^a,b   Man, Mao Qiang ^a,c   Weber, Florian ^b   Gao, WenNi ^a,c   Feingold, Kenneth R ^a,d   Fritsch, Peter ^b   Elias, Peter M ^a,c   Holleran, Walter M ^a,c,e  

^a Department of Dermatology ^*  (United States)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c SAN FRANCISCO VETERANS AFFAIRS MEDICAL CENTER   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Ceramides; Epidermis; Glucosylceramides; Sphingomyelin; Sphingomyelinase; Stratum corneum; Transepidermal water loss

Indexed keywords

CERAMIDE; DESIPRAMINE; ENZYME INHIBITOR; GLUCOSYLCERAMIDE; SPHINGOMYELIN; SPHINGOMYELIN PHOSPHODIESTERASE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME INHIBITION; FEMALE; HOMEOSTASIS; HUMAN; HUMAN TISSUE; HYDROLYSIS; MALE; MOUSE; NIEMANN PICK DISEASE; NONHUMAN; PERMEABILITY BARRIER; PRIORITY JOURNAL; STRATUM CORNEUM;

EID: 0033832624     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2000.00081.x     Document Type: Article

References (76)

1. A rapid method of total lipid extraction and purification
2. Sphingomyelinase in pig and human epidermis
3. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
4. Glucosylceramide synthase activity in murine epidermis: Quantitation, localization, regulation and requirement for barrier homeostasis
5. Niemann-Pick disease: A review of 18 patients
6. Structural and lipid biochemical correlates of the epidermal permeability barrier
7. Localization and composition of lipids in neonatal mouse stratum granulosum and stratum corneum
8. Membrane structural alterations in murine stratum corneum: Relationship to the localization of polar lipids and phospholipases
9. Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A
10. Occurrence of two molecular forms of human acid sphingomyelinase
11. Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease
12. Lipid composition and acid hydrolase content of lamellar granules of fetal rat epidermis
13. Magnesium-dependent sphingomyelinase
14. A spectrophotometric method for determination of sphingomyelinase
15. Effects of gentamicin on sphingomyelinase activity in cultured human renal proximal tubular cells
16. Different populations of pig epidermal cells: Isolation and lipid composition
17. Lipid compositions of cells isolated from pig, human and rat epidermis
18. The plasma membrane of granular cells from pig epidermis: Isolation and lipid and protein composition
19. The plasma membrane of Malpighian cells from pig epidermis: Isolation and lipid and protein composition
20. Lipid composition of the superficial stratum corneum cells of pig epidermis
21. Lamellar body-enriched fractions from neonatal mice: Preparative techniques and partial characterization
22. The sphingomyelin cycle: A prototypic sphingolipid signaling pathway
23. Regulation of epidermal sphingolipid synthesis by permeability barrier function
24. Sphingolipids are required for mammalian epidermal barrier function. Inhibition of sphingolipid synthesis delays barrier recovery after acute perturbation
25. Beta-glucocerebrosidase activity in murine epidermis: Characterization and localization in relation to differentiation
26. Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function
27. Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease
28. Acid sphingomyelinase deficient mice: A model of types A and B Niemann-Pick disease
29. Membrane structures in normal and essential fatty acid-deficient stratum corneum: Characterization by ruthenium tetroxide staining and x-ray diffraction
30. The tricyclic antidepressant desipramine causes proteolytic degradation of lysosomal sphingomyelinase in human fibroblasts
31. Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive
32. Decreased level of ceramides in stratum corneum of atopic dermatitis: An etiologic factor in atopic dry skin
33. Roles for tumor necrosis factor receptor p55 and sphingomyelinase in repairing the cutaneous permeability barrier
34. Identification of sphingomyelin turnover as an effector mechanism for the action of tumor necrosis factor alpha and gamma-interferon. Specific role in cell differentiation
35. Sphingomyelin and derivatives as cellular signals
36. Intracellular transport and metabolism of sphingomyelin
37. Impaired neutral sphingomyelinase activation and cutaneous barrier repair in FAN-deficient mice
38. Human placental sphingomyelinase. Purification to homogeneity, antigenic properties and partial amino-acid sequences of the enzyme
39. Human placental sphingomyelinase
40. Localization of sphingomyelinase in lesional skin of atopic dermatitis patients
41. Human stratum corneum lipids: Characterization and regional variations
42. Human epidermal lipids: Characterization and modulation during differentiation
43. The epidermal permeability barrier
44. Lamellar granule biogenesis: A role for ceramide glucosyltransferase, lysosomal enzyme transport and the golgi
45. Exogenous nonphysiologic vs physiologic lipids. Divergent mechanisms for correction of permeability barrier dysfunction
46. Extracellular processing of phospholipids is required for permeability barrier homeostasis
47. Secretory phospholipase A2 activity is required for permeability barrier homeostasis
48. Niemann-Pick disease: Report of a case with skin involvement
49. Decreased stratum corneum ceramides in atopic individuals - A pathobiochemical factor in xerosis? (letter)
50. De novo sterologenesis in the skin. II. Regulation by cutaneous barrier requirements
51. Cytochemical and biochemical localization of lipase and sphingomyelinase activity in mammalian epidermis
52. Lamellar body secretory response to barrier disruption
53. Lamellar bodies as delivery systems of hydrolytic enzymes: Implications for normal and abnormal desquamation
54. An update of the enzymology and regulation of sphingomyelin metabolism
55. A mouse model for Niemann-Pick disease. Influence of genetic background on disease expression in spm/spm mice
56. Abnormality of water barrier function in psoriasis. Role of ceramide fractions
57. Content of the different lipid classes in psoriatic scale
58. Abnormal expression of sphingomyelin acylase in atopic dermatitis: An etiologic factor for ceramide deficiency
59. Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene
60. Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease)
61. Lipid composition of cultured human keratinocytes in relation to their differentiation
62. Coordinate assembly of lipids and enzyme proteins into epidermal lamellar bodies
63. 6-Hydroxy-4-sphingenine in human epidermal ceramides
64. Induction of ceramide glucosyltransferase activity in cultured human keratinocytes. Correlation with culture differentiation
65. Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs
66. The biochemistry and function of stratum corneum lipids
67. Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease
68. Sphingomyelinases
69. A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate
70. Sphingolipid metabolism during infection of human fibroblasts by herpes simplex virus type 1
71. Activation of magnesium-dependent, neutral sphingomyelinase by phosphatidylserine
72. Specific skin lesions in a patient with Niemann-Pick disease
73. Epidermal sphingomyelins are precursors for specific ceramides in the stratum corneum
74. Sphingolipids of the stratum corneum and lamellar granules of fetal rat epidermis
75. Change in sphingomyelinase activity in human epidermis during aging
76. Lipid composition and metabolism in normal and diseased epidermis