Bustos F - Search Results

1

A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome.

Bustos F, Espejo-Serrano C, Segarra-Fas A, Toth R, Eaton AJ, Kernohan KD, Wilson MJ, Riley LG, Findlay GM. Bustos F, et al. Sci Rep. 2021 May 5;11(1):9560. doi: 10.1038/s41598-021-88911-3. Sci Rep. 2021. PMID: 33953269 Free PMC article.

2

Protein Kinases in Pluripotency-Beyond the Usual Suspects.

Fernandez-Alonso R, Bustos F, Williams CAC, Findlay GM. Fernandez-Alonso R, et al. Among authors: bustos f. J Mol Biol. 2017 May 19;429(10):1504-1520. doi: 10.1016/j.jmb.2017.04.013. Epub 2017 Apr 26. J Mol Biol. 2017. PMID: 28456524 Free article. Review.

3

RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation.

Bustos F, Segarra-Fas A, Chaugule VK, Brandenburg L, Branigan E, Toth R, Macartney T, Knebel A, Hay RT, Walden H, Findlay GM. Bustos F, et al. Cell Rep. 2018 May 8;23(6):1599-1611. doi: 10.1016/j.celrep.2018.04.022. Cell Rep. 2018. PMID: 29742418 Free PMC article.

4

Phosphoproteomics identifies a bimodal EPHA2 receptor switch that promotes embryonic stem cell differentiation.

Fernandez-Alonso R, Bustos F, Budzyk M, Kumar P, Helbig AO, Hukelmann J, Lamond AI, Lanner F, Zhou H, Petsalaki E, Findlay GM. Fernandez-Alonso R, et al. Among authors: bustos f. Nat Commun. 2020 Mar 13;11(1):1357. doi: 10.1038/s41467-020-15173-4. Nat Commun. 2020. PMID: 32170114 Free PMC article.

5

Functional Diversification of SRSF Protein Kinase to Control Ubiquitin-Dependent Neurodevelopmental Signaling.

Bustos F, Segarra-Fas A, Nardocci G, Cassidy A, Antico O, Davidson L, Brandenburg L, Macartney TJ, Toth R, Hastie CJ, Moran J, Gourlay R, Varghese J, Soares RF, Montecino M, Findlay GM. Bustos F, et al. Dev Cell. 2020 Dec 7;55(5):629-647.e7. doi: 10.1016/j.devcel.2020.09.025. Epub 2020 Oct 19. Dev Cell. 2020. PMID: 33080171 Free PMC article.

6

Therapeutic validation and targeting of signalling networks that are dysregulated in intellectual disability.

Bustos F, Findlay GM. Bustos F, et al. FEBS J. 2023 Mar;290(6):1454-1460. doi: 10.1111/febs.16411. Epub 2022 Feb 28. FEBS J. 2023. PMID: 35212144 Free PMC article.

7

Activity-based probe profiling of RNF12 E3 ubiquitin ligase function in Tonne-Kalscheuer syndrome.

Bustos F, Mathur S, Espejo-Serrano C, Toth R, Hastie CJ, Virdee S, Findlay GM. Bustos F, et al. Life Sci Alliance. 2022 Jun 28;5(11):e202101248. doi: 10.26508/lsa.202101248. Print 2022 Nov. Life Sci Alliance. 2022. PMID: 35764390 Free PMC article.

8

An RNF12-USP26 amplification loop drives germ cell specification and is disrupted by disease-associated mutations.

Segarra-Fas A, Espejo-Serrano C, Bustos F, Zhou H, Wang F, Toth R, Macartney T, Bach I, Nardocci G, Findlay GM. Segarra-Fas A, et al. Among authors: bustos f. Sci Signal. 2022 Jul 12;15(742):eabm5995. doi: 10.1126/scisignal.abm5995. Epub 2022 Jul 12. Sci Signal. 2022. PMID: 35857630 Free PMC article.

9

Roles of the Rlim-Rex1 axis during X chromosome inactivation in mice.

Wang F, Chander A, Yoon Y, Welton JM, Wallingford MC, Espejo-Serrano C, Bustos F, Findlay GM, Mager J, Bach I. Wang F, et al. Among authors: bustos f. Proc Natl Acad Sci U S A. 2023 Dec 26;120(52):e2313200120. doi: 10.1073/pnas.2313200120. Epub 2023 Dec 19. Proc Natl Acad Sci U S A. 2023. PMID: 38113263 Free PMC article.

10

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.

Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, Harel T. Koch I, et al. Among authors: bustos f. Life Sci Alliance. 2024 Jan 5;7(3):e202302258. doi: 10.26508/lsa.202302258. Print 2024 Mar. Life Sci Alliance. 2024. PMID: 38182161 Free PMC article.

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