Chronic tubulointerstitial kidney disease in untreated adenine phosphoribosyl transferase (APRT) deficiency: A case report

Autor: Kendrah Kidd, Benjamin Cochran, Angela G Niehaus, Stanislav Kmoch, Alex Bonnecaze, Anthony J. Bleyer, Tereza Kovačíková, Gowrie Balasubraminiam, Amret T. Hawfield, Martina Živná, Aleš Hnízda, Kateřina Hodaňová, Irene Ceballos-Picot

Publikováno v: Clinical Nephrology. 90:296-301

Adenine phosphoribosyltransferase (APRT) deficiency (OMIM #614723) is a rare autosomal recessive defect in the purine salvage pathway that causes excessive production of 2,8-dihydroxyadenine, leading to nephrolithiasis and chronic kidney disease (CKD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ce252ada074c25c7639df86dc2e98db
https://doi.org/10.5414/cn109460

Oxidative stress-inducible antioxidant adaptive response during prostaglandin F2α-induced luteal cell deathin vivo

Autor: Irene Ceballos-Picot, Catherine Garrel, Guy Germain, Kaïs H Al-Gubory

Publikováno v: Free Radical Research. 41:251-259

Oxidative stress-induced antioxidant adaptive response would be particularly important to cells in high reactive oxygen species (ROS) environments. We aimed to determine the dynamic adaptive response of antioxidant enzymatic systems in sheep corpus l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b525af49f5a3338fbed720077ee324c
https://doi.org/10.1080/10715760601067493

Adenine Phosphoribosyltransferase Deficiency: An Underdiagnosed Cause of Lithiasis and Renal Failure

Autor: Giuseppe Garigali, Maria Angela Pavesi, Alberto Edefonti, Gianantonio Manzoni, Giuseppina Marra, Lionel Mockel, Irene Ceballos Picot, Paolo Gilles Vercelloni, Giovanni B. Fogazzi

Publikováno v: JIMD Reports ISBN: 9783642280955

We describe an infant affected by adenine phosphoribosyltransferase (APRT) deficiency diagnosed at 18 months of age with a de novo mutation that has not been previously reported. APRT deficiency is a rare defect of uric acid catabolism that leads to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::563c50c87a31335a96375740c3b5273d
https://doi.org/10.1007/8904_2011_92

Changes in activities of superoxide dismutase, nitric oxide synthase, gluthatione-dependent enzymes and the incidence of apoptosis in sheep corpus luteum duing the estrous cycle

Autor: Marie Michaud, Kaïs H Al-Gubory, Guy Germain, Philippe Bolifraud, Annie Nicole, François Blachier, Camille Mayeur, Irene Ceballos-Picot

Publikováno v: Biochimica et Biophysica Acta (BBA)-General Subjects
Biochimica et Biophysica Acta (BBA)-General Subjects, Elsevier, 2005, 1725 (3), pp.348-357. ⟨10.1016/j.bbagen.2005.06.018⟩

Anti-oxidative enzymes play a role in protecting cells from oxidative stress-induced cell death. The present study was conducted to evaluate whether the anti-oxidant and pro-oxidant enzymatic capacities of the sheep corpus luteum (CL) are correlated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22406b98a11b5058c6c9074859bb68d7
https://hal.inrae.fr/hal-02680887

Reviewer acknowledgement 2015.

Autor: Aymé, Ségolène¹ segolene.ayme@inserm.fr

Publikováno v: Orphanet Journal of Rare Diseases. Mar2015, Vol. 10 Issue 1, p1-11. 11p.