Marie José Stasia
Affiliation: CHU de Grenoble
- Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different familiesMarie José Stasia
Chronic Granulomatous Disease Diagnosis and Research Centre, Therex TIMC Imag, UMR CNRS 5525, UJF Grenoble 1, Grenoble, 38041, France
J Clin Immunol 32:653-62. 2012..The deletion found in patient 2 probably arose from a similar misalignment. The results found in these patients were confirmed by multiplex ligation-dependent probe amplification. The clinical profile of XCGD is severe in both patients...
- 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 tailMarie José Stasia
GREPI EA 2938 UJF, Laboratoire d Enzymologie, CHU 38043 Grenoble Cedex 9, France
Biochim Biophys Acta 1586:316-30. 2002..We concluded that residues 303 and 304 are crucial for the stable assembly of the NADPH oxidase complex and for electron transfer, but not for its proton channel activity...
- [The X+ chronic granulomatous disease as a fabulous model to study the NADPH oxidase complex activation]Marie José Stasia
Centre de Diagnostic et de Recherche sur la Granulomatose Septique Chronique, GREPI, TIMC IMAG UMR CNRS 5525, Laboratoire d Enzymologie, BP 217, 38043 Grenoble Cedex 09, France
Med Sci (Paris) 23:526-32. 2007..Recent works demonstrated that this cell line genetically deficient in gp91phox is a powerful tool for functional analysis of the NADPH oxidase complex activation...
- Genetics and immunopathology of chronic granulomatous diseaseMarie José Stasia
Centre Diagnostic et Recherche sur la Granulomatose Septique Chronique, Laboratoire TIMC IMAG UMR CNRS 5525, Universite J Fourier, CHU 38043 Grenoble, France
Semin Immunopathol 30:209-35. 2008..Long-term antibiotic prophylaxis has been essential in fighting infections associated with CGD, but approaches based on hematopoietic stem cell transplantation and gene therapy offer great hope for the near future...
- Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous diseaseMarie José Stasia
Laboratoire d Enzymologie, GREPI EA 2938 UJF, CHU 38043, Grenoble Cedex 9, France
Hum Genet 116:72-82. 2005..No clear correlation between the severity of the clinical symptoms and the sub-type of XCGD could be established...
- Severe clinical forms of cytochrome b-negative chronic granulomatous disease (X91-) in 3 brothers with a point mutation in the promoter region of CYBBMarie José Stasia
GREPI EA 2938, Laboratoire d Enzymologie, Centre Hospitalier Universitaire, Grenoble, France
J Infect Dis 188:1593-604. 2003..It was concluded that the O(2)(-) production in the neutrophils of these patients was not sufficient to protect them against infections, and this X91(-) CGD phenotype must be considered to be a severe clinical form of CGD...
- A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4Marie José Stasia
GREPI EA 2938 UJF, Laboratoire d Enzymologie, DBPC, CHU 38043 Grenoble Cedex 9, France
Hum Genet 110:444-50. 2002..The splicing mRNA error is attributable to the loss of the ag acceptor site of intron 4 and the utilization of a cryptic splice site with an ag sequence at position 355-356 of intron 4...
- Crucial role of two potential cytosolic regions of Nox2, 191TSSTKTIRRS200 and 484DESQANHFAVHHDEEKD500, on NADPH oxidase activationXing Jun Li
Groupe de Recherche et d Etude du Processus Inflammatoire EA 2938 Université Joseph Fourier, Laboratoire Enzymologie, Centre Hospitalier Universitaire, 38043 Grenoble Cedex 9, France
J Biol Chem 280:14962-73. 2005....
- Leu505 of Nox2 is crucial for optimal p67phox-dependent activation of the flavocytochrome b558 during phagocytic NADPH oxidase assemblyXing Jun Li
Groupe de Recherche et d Etude du Processus Inflammatoire, Universite Joseph Fourier, Laboratoire d Enzymologie, Centre Hospitalier Universitaire, Grenoble CHU 38043, Cedex 9, France
J Leukoc Biol 81:238-49. 2007....
- Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cellsClara Bionda
GREPI EA 2938, Lab Enzymologie, CHU, Grenoble Cedex 9, 38043, France
Hum Genet 115:418-27. 2004..Thus, even though the His303Asn mutation has a more severe inhibitory effect on NADPH oxidase activity and assembly than the Pro304Arg mutation, neither mutation can be considered as a polymorphism...
- New insights into the membrane topology of the phagocyte NADPH oxidase: characterization of an anti-gp91-phox conformational monoclonal antibodyYannick Campion
GREPI EA 2938, Lab Enzymologie DBPC, CHU Grenoble, BP 217, 38043 Grenoble Cedex 9, France
Biochimie 89:1145-58. 2007..Moreover, the antibody 13B6 may be conformationally sensitive and used as a probe for identifying the active NADPH oxidase complex in vivo...
- Role of putative second transmembrane region of Nox2 protein in the structural stability and electron transfer of the phagocytic NADPH oxidaseAntoine Picciocchi
Chronic Granulomatous Disease Diagnosis and Research Centre, Therex TIMC Imag, UMR CNRS 5525, Universite Joseph Fourier Grenoble 1, F 38041 Grenoble, France
J Biol Chem 286:28357-69. 2011....
- A novel point mutation in the CYBB gene promoter leading to a rare X minus chronic granulomatous disease variant--impact on the microbicidal activity of neutrophilsFederica Defendi
Centre Diagnostic et Recherche sur la Granulomatose Septique CGD, Laboratoire TIMC IMAG, UMR CNRS 5525, Universite Joseph Fourier, CHU Grenoble, BP 217, 38043 Grenoble Cedex 9, France
Biochim Biophys Acta 1792:201-10. 2009..It was concluded that in these X91- CGD neutrophils, the O2- production per se was not sufficient to protect the patient against severe infections...
- Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genesCecile Martel
Chronic Granulomatous Disease Diagnosis and Research Centre CDiReC, Pôle Biologie, CHU de Grenoble, Grenoble, 38043, France
J Clin Immunol 32:942-58. 2012..No clear correlation between clinical severity and CYBB mutations could be established. Of three mutations in CYBA, NCF1 and NCF2 leading to rare autosomal recessive CGD, one nonsense mutation c29G>A in exon 1 of NCF2 was new...