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In vivo bioassay to test the pathogenicity of missense human AIP variants.
Aflorei ED, Klapholz B, Chen C, Radian S, Dragu AN, Moderau N, Prodromou C, Ribeiro PS, Stanewsky R, Korbonits M. Aflorei ED, et al. Among authors: prodromou c. J Med Genet. 2018 Aug;55(8):522-529. doi: 10.1136/jmedgenet-2017-105191. Epub 2018 Apr 9. J Med Genet. 2018. PMID: 29632148 Free PMC article.
Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations.
Hernández-Ramírez LC, Martucci F, Morgan RM, Trivellin G, Tilley D, Ramos-Guajardo N, Iacovazzo D, D'Acquisto F, Prodromou C, Korbonits M. Hernández-Ramírez LC, et al. Among authors: prodromou c. J Clin Endocrinol Metab. 2016 Aug;101(8):3144-54. doi: 10.1210/jc.2016-1307. Epub 2016 Jun 2. J Clin Endocrinol Metab. 2016. PMID: 27253664 Free PMC article.
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.
Sacristan-Reviriego A, Bellingham J, Prodromou C, Boehm AN, Aichem A, Kumaran N, Bainbridge J, Michaelides M, van der Spuy J. Sacristan-Reviriego A, et al. Among authors: prodromou c. Hum Mol Genet. 2018 Apr 1;27(7):1309. doi: 10.1093/hmg/ddy024. Hum Mol Genet. 2018. PMID: 29351602 Free PMC article. No abstract available.
130 results