Irene Ceballos-Picot
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Explore the profile of Irene Ceballos-Picot including associated specialties, affiliations and a list of published articles.
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41
Citations
661
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Recent Articles
1.
Petitgas C, Seugnet L, Dulac A, Matassi G, Mteyrek A, Fima R, et al.
Elife
. 2024 May;
12.
PMID: 38700995
Adenine phosphoribosyltransferase (APRT) and hypoxanthine-guanine phosphoribosyltransferase (HGPRT) are two structurally related enzymes involved in purine recycling in humans. Inherited mutations that suppress HGPRT activity are associated with Lesch-Nyhan disease (LND),...
2.
Sutcliffe D, Dinasarapu A, Visser J, den Hoed J, Seifar F, Joshi P, et al.
Sci Rep
. 2021 Apr;
11(1):8523.
PMID: 33875724
Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt). We generated 6 induced pluripotent stem...
3.
Hamroun A, Lenain R, Maanaoui M, Provot F, Ceballos-Picot I, Douillard C, et al.
Kidney Int
. 2021 Mar;
99(4):1029-1030.
PMID: 33745538
No abstract available.
4.
Mercati O, Abi Warde M, Lina-Granade G, Rio M, Heide S, de Lonlay P, et al.
Eur J Med Genet
. 2020 Aug;
63(11):104033.
PMID: 32781272
We describe two sporadic and two familial cases with loss-of-function variants in PRPS1, which is located on the X chromosome and encodes phosphoribosyl pyrophosphate synthetase 1 (PRS-1). We illustrate the...
5.
Madeo A, Di Rocco M, Brassier A, Bahi-Buisson N, de Lonlay P, Ceballos-Picot I
Mol Genet Metab
. 2019 Jun;
127(2):147-157.
PMID: 31182398
Background: HPRT deficiency is a rare disorder of purine metabolism whose natural history is not fully understood. No optimal management recommendations exist. The objective of the present study is to...
6.
Ozeir M, Huyet J, Burgevin M, Pinson B, Chesney F, Remy J, et al.
J Biol Chem
. 2019 Jun;
294(32):11980-11991.
PMID: 31160323
The reversible adenine phosphoribosyltransferase enzyme (APRT) is essential for purine homeostasis in prokaryotes and eukaryotes. In humans, APRT (hAPRT) is the only enzyme known to produce AMP in cells from...
7.
Ceballos-Picot I, Saha A, Arora N, Kapoor K, Kaur M, Singh Dhull R, et al.
Kidney Int Rep
. 2019 Apr;
4(4):624-628.
PMID: 30993240
No abstract available.
8.
Cochran B, Kovacikova T, Hodanova K, Zivna M, Hnizda A, Niehaus A, et al.
Clin Nephrol
. 2018 Aug;
90(4):296-301.
PMID: 30106368
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...
9.
Saidak Z, Louandre C, Dahmani S, Sauzay C, Guedda S, Chauffert B, et al.
Biosci Rep
. 2018 Aug;
38(5).
PMID: 30104401
Uric acid (UA) is the end product of the catabolism of purines, and its serum levels are commonly increased in cancer patients. We aimed to explore the transcriptional regulation of...
10.
Huyet J, Ozeir M, Burgevin M, Pinson B, Chesney F, Remy J, et al.
Cell Chem Biol
. 2018 Mar;
25(6):666-676.e4.
PMID: 29576532
Phosphoribosyltransferases catalyze the displacement of a PRPP α-1'-pyrophosphate to a nitrogen-containing nucleobase. How they control the balance of substrates/products binding and activities is poorly understood. Here, we investigated the human...