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Page 1
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.
Correia SP, Moedas MF, Taylor LS, Naess K, Lim AZ, McFarland R, Kazior Z, Rumyantseva A, Wibom R, Engvall M, Bruhn H, Lesko N, Végvári Á, Käll L, Trost M, Alston CL, Freyer C, Taylor RW, Wedell A, Wredenberg A. Correia SP, et al. JCI Insight. 2024 Oct 22;9(20):e178645. doi: 10.1172/jci.insight.178645. JCI Insight. 2024. PMID: 39288270 Free PMC article.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, Nambot S, Alkuraya FS, Hashem MO, Alhashem A, Tabarki B, Alamri AS, Al Safar AH, Bubshait DK, Alahmady NF, Gleeson JG, Abdel-Hamid MS, Lesko N, Ygberg S, Correia SP, Wredenberg A, Alavi S, Seyedhassani SM, Ebrahimi Nasab M, Hussien H, Omar TEI, Harzallah I, Touraine R, Tajsharghi H, Morsy H, Houlden H, Shahrooei M, Ghavideldarestani M, Abdel-Salam GMH, Torella A, Zanobio M, Terrone G, Brunetti-Pierri N, Omrani A, Hentschel J, Lemke JR, Sticht H, Abou Jamra R, Brown AEX, Maroofian R, Platzer K. Rosenhahn E, et al. Among authors: correia sp. Am J Hum Genet. 2022 Aug 4;109(8):1421-1435. doi: 10.1016/j.ajhg.2022.06.008. Epub 2022 Jul 12. Am J Hum Genet. 2022. PMID: 35830857 Free PMC article.
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome via alteration of metabolic signaling.
Chapman KA, Ullah F, Yahiku ZA, Kodiparthi SV, Kellaris G, Correia SP, Stödberg T, Sofokleous C, Marinakis NM, Fryssira H, Tsoutsou E, Traeger-Synodinos J, Accogli A, Salpietro V, Striano P, Berger SI, Pond KW, Sirimulla S, Davis EE, Bhattacharya MR. Chapman KA, et al. Among authors: correia sp. medRxiv [Preprint]. 2024 Jul 1:2024.06.27.24309417. doi: 10.1101/2024.06.27.24309417. medRxiv. 2024. PMID: 39006436 Free PMC article. Preprint.
The circadian E3 ligase complex SCFFBXL3+CRY targets TLK2.
Correia SP, Chan AB, Vaughan M, Zolboot N, Perea V, Huber AL, Kriebs A, Moresco JJ, Yates JR 3rd, Lamia KA. Correia SP, et al. Sci Rep. 2019 Jan 17;9(1):198. doi: 10.1038/s41598-018-36618-3. Sci Rep. 2019. PMID: 30655559 Free PMC article.
Is the deep-sea crab Chaceon affinis able to induce a thermal stress response?
Mestre NC, Cottin D, Bettencourt R, Colaço A, Correia SP, Shillito B, Thatje S, Ravaux J. Mestre NC, et al. Among authors: correia sp. Comp Biochem Physiol A Mol Integr Physiol. 2015 Mar;181:54-61. doi: 10.1016/j.cbpa.2014.11.015. Epub 2014 Nov 26. Comp Biochem Physiol A Mol Integr Physiol. 2015. PMID: 25434602