Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1586, Issue 3, 2002, Pages 316-330

  Stasia, Marie José ^a   Lardy, Bernard ^a   Maturana, Andres ^b   Rousseau, Pascale ^a   Martel, Cécile ^a   Bordigoni, Pierre ^c   Demaurex, Nicolas ^b   Morel, Françoise ^a  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

^b Department of Physiology and Fondation Pour Recherches Médicales ^*  (Switzerland)

^c UNIVERSITY HOSPITAL OF NANCY   (France)

Author keywords

Chronic granulomatous disease; Cytochrome b558; Cytosolic factor translocation; FAD binding site; Missense mutation; NADPH oxidase

Indexed keywords

ARACHIDONIC ACID; CYTOCHROME B558; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE;

ACIDIFICATION; ARTICLE; B LYMPHOCYTE; BIOASSAY; CARBOXY TERMINAL SEQUENCE; CELL FREE SYSTEM; CHRONIC GRANULOMATOUS DISEASE; CONTROLLED STUDY; CYTOSOL; DNA SEQUENCE; ELECTRON TRANSPORT; EPSTEIN BARR VIRUS; GENE AMPLIFICATION; GENE TRANSLOCATION; GENETIC STRAIN; GENOME; HUMAN; HUMAN CELL; MEMBRANE; MISSENSE MUTATION; MOLECULAR BIOLOGY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; STIMULATION; VIRUS TRANSFORMATION; WILD TYPE;

CELL MEMBRANE; CYTOCHROME B GROUP; CYTOSOL; FLAVIN-ADENINE DINUCLEOTIDE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INFANT; MALE; MEMBRANE GLYCOPROTEINS; MUTATION, MISSENSE; N-FORMYLMETHIONINE LEUCYL-PHENYLALANINE; NADPH OXIDASE; NEUTROPHILS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA, MESSENGER; TETRADECANOYLPHORBOL ACETATE;

HUMAN HERPESVIRUS 4;

EID: 0037165698     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(01)00110-7     Document Type: Article

References (60)

1. NADPH oxidase: An update
2. Assembly of the phagocyte NADPH oxidase: Molecular interaction of oxidase proteins
3. Activation of the NADPH oxidase involves the small GTP-binding protein p21rac
4. Purification and characterization of Rac 2. A cytosolic GTP-binding protein that regulates human neutrophil NADPH oxidase
5. Two cytosolic components of the human neutrophil respiratory burst oxidase translocate to the plasma membrane during cell activation
6. 2 oxidoreductase in human neutrophils after stimulation with phorbol myristate acetate
7. P40phox, a third cytosolic component of the activation complex of the NADPH oxidase contain src homology 3 domains
8. -245 of neutrophil superoxide-generating system contains two non-identical hemes. Potentiometric studies of a mutant form of gp91phox
9. -245 is a flavocytochrome containing FAD and the NADPH-binding site of microbicidal oxidase of phagocytes
10. 558, a component of phagocyte NADPH oxidase is a flavoprotein
11. 558: The flavin-binding component of the phagocyte NADPH oxidase
12. Phenylarsine oxide as an inhibitor of the activation of the neutrophil NADPH oxidase, Identification of the b subunit of the cytochrome b component of the NADPH oxidase as a target site for phenylarsine oxide by photoaffinity labeling and photoinactivation
13. --generating oxidase of neutrophils by an azido derivative of FAD
14. NADPH oxidase of neutrophils
15. + conductance of leukocytes
16. + conductance in eosinophils: Unique characteristics and absence in chronic granulomatous disease
17. Simultaneous activation of NADPH oxidase-related proton and electron currents in human neutrophils
18. + channel
19. + channel. Evidence that gp91-phox functions as an essential part of the channel
20. + channel is contained within the multi-membrane-spanning N-terminal region of gp91-phox
21. + channel
22. + channel generated through alternative splicing of the NADPH oxidase homolog NOH-1
23. A Ca (2+)-activated NADPH oxidase in testis, spleen, and lymph nodes
24. Heme histidine ligands within gp91phox modulate proton conduction by the phagocyte NADPH oxidase
25. Bases moléculaires de la granulomatose septique
26. Chronic granulomatous disease: The solving of a clinical riddle at the molecular level
27. The NADPH oxidase and chronic granulomatous disease
28. Cloning the gene for an inherited human disorder - chronic granulomatous disease - on the basis of its chromosomal location
29. Genetic heterogeneity in patients with X-linked chronic granulomatous disease
30. Mutation in the X-linked and autosomal recessive forms of chronic granulomatous disease
31. Genetic and clinical features of chronic granulomatous disease
32. 558 heavy chain gene replacing alanine 57 by glutamic acid, in a patient with cytochrome b positive chronic granulomatous disease
33. +) with partially functional cytochrome b
34. A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease
35. Functional analysis of NADPH oxidase in granulocytic cells expressing a Δ488-497 gp91phox deletion mutant
36. 558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox
37. Four novel mutations in the gene encoding gp91-phox of human NADPH oxidase: Consequences for oxidase assembly
38. A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease
39. An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity
40. X-Linked chronic granulomatous disease: Mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase
41. Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease
42. 558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease
43. Isolation of mononuclear cells and granulocytes from human blood
44. --generating oxidase in an heterologous cell-free system derived from Epstein-Barr-virus-transformed human B lymphocytes and bovine neutrophils
45. Single-step method of RNA isolation by acid guanidium thiocyanate-phenol-chloroform extraction
46. Polymorphic DNA region adjacent to 5′ end of human insulin gene
47. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
48. 558
49. The respiratory burst of bovine neutrophils. Role of b type cytochrome and coenzyme specificity
50. Determination of flavin contents in neutrophils by a sensitive chemiluminescence assay: Evidence for no translocation of flavoproteins from the cytosol to the membrane upon cell stimulation
51. Cleavage of structural proteins during the assembly of the head of bacteriophage T4
52. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and some application
53. 558 of human neutrophils
54. Complementation of NADPH oxidase in p67-phox/p40-phox interaction
55. A rapid and sensitive method for quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
56. -245 beta-chain
57. 558 of human NADPH oxidase
58. + conductance in NADPH oxidase-defective neutrophils
59. Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient
60. Homologs of gp91phox: Cloning and tissue expression of Nox3, Nox 4, and Nox 5