Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project

Autor: Céline Angin, Monica Mazzucato, Stefanie Weber, Kurt Kirch, Waed Abdel Khalek, Houda Ali, Sylvie Maiella, Annie Olry, Anne-Sophie Jannot, Ana Rath

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

Abstract Background In European Union countries, any disease affecting less than 5 people in 10,000 is considered rare. As expertise is scarce and rare diseases (RD) are complex, RD patients can remain undiagnosed for many years. The period of search

Externí odkaz: https://doaj.org/article/8779247dca114d259e89e33baec1d752

SIRT3, a mitochondrial NAD⁺-dependent deacetylase, is involved in the regulation of myoblast differentiation.

Autor: Waed Abdel Khalek, Fabienne Cortade, Vincent Ollendorff, Laure Lapasset, Lionel Tintignac, Béatrice Chabi, Chantal Wrutniak-Cabello

Publikováno v: PLoS ONE, Vol 9, Iss 12, p e114388 (2014)

Sirtuin 3 (SIRT3), one of the seven mammalian sirtuins, is a mitochondrial NAD+-dependent deacetylase known to control key metabolic pathways. SIRT3 deacetylases and activates a large number of mitochondrial enzymes involved in the respiratory chain,

Externí odkaz: https://doaj.org/article/f08bb3b5cf6d4cb58ca304cab8391558

Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling

Autor: Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, 2022, 23 (9), pp.5151. ⟨10.3390/ijms23095151⟩
International Journal of Molecular Sciences; Volume 23; Issue 9; Pages: 5151

Cullin 3 (CUL3) is the scaffold of Cullin3 Ring E3-ligases (CRL3s), which use various BTB-adaptor proteins to ubiquitinate numerous substrates targeting their proteasomal degradation. CUL3 mutations, responsible for a severe form of familial hyperkal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2bc85326cdc74b966522660c0df3838
https://doi.org/10.3390/ijms23095151

Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex

Autor: Catherine Le Stunff, Eric Clauser, Alain Couvineau, Caroline Silve, Waed Abdel Khalek, Yara Rhayem, Jérôme Bertherat, Agnès Linglart, C. Auzan

Publikováno v: Journal of Biological Chemistry. 290:27816-27828

The main target of cAMP is PKA, the main regulatory subunit of which (PRKAR1A) presents mutations in two genetic disorders: acrodysostosis and Carney complex. In addition to the initial recurrent mutation (R368X) of the PRKAR1A gene, several missense

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ba27303538e86f6fa9204845188592
https://doi.org/10.1074/jbc.m115.656553

Les sirtuines mitochondriales

Autor: Chantal Wrutniak Cabello, chabi beatrice, Waed Abdel Khalek

Publikováno v: 7. Colloque du réseau MeetOchondrie
7. Colloque du réseau MeetOchondrie, May 2014, Evian les Bains, France. 16 p
7. Colloque Meetochondrie
7. Colloque Meetochondrie, May 2014, Evian, France. 16 p
HAL

Les sirtuines mitochondriales . 7. Colloque du réseau MeetOchondrie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::938a2eb87821033e98573140d2042e2d
https://hal.archives-ouvertes.fr/hal-01837639