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Page 1
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Brigida I, Zara E, Scala S, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, Ciolfi A, Netter P, Carisey AF, Diehl M, Akbarzadeh M, Conti F, Merli P, Pastore A, Levi Mortera S, Camerini S, Farina L, Buchholzer M, Pannone L, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Basso-Ricci L, Chiriaco M, Dvorsky R, Putignani L, Carsetti R, Janning P, Stray-Pedersen A, Erichsen HC, Horne A, Bryceson YT, Torralba-Raga L, Ramme K, Rosti V, Bracaglia C, Messia V, Palma P, Finocchi A, Locatelli F, Chinn IK, Lupski JR, Mace EM, Cancrini C, Aiuti A, Ahmadian MR, Orange JS, De Benedetti F, Tartaglia M. Lam MT, et al. Among authors: buchholzer m. J Exp Med. 2019 Dec 2;216(12):2778-2799. doi: 10.1084/jem.20190147. Epub 2019 Oct 10. J Exp Med. 2019. PMID: 31601675 Free PMC article.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics; Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM. Martinelli S, et al. Among authors: buchholzer m. Am J Hum Genet. 2018 Feb 1;102(2):309-320. doi: 10.1016/j.ajhg.2017.12.015. Epub 2018 Jan 25. Am J Hum Genet. 2018. PMID: 29394990 Free PMC article.
Structural snapshots of RAF kinase interactions.
Rezaei Adariani S, Buchholzer M, Akbarzadeh M, Nakhaei-Rad S, Dvorsky R, Ahmadian MR. Rezaei Adariani S, et al. Among authors: buchholzer m. Biochem Soc Trans. 2018 Dec 17;46(6):1393-1406. doi: 10.1042/BST20170528. Epub 2018 Oct 31. Biochem Soc Trans. 2018. PMID: 30381334 Review.
Inhibition of the RacGEF VAV3 by the small molecule IODVA1 impedes RAC signaling and overcomes resistance to tyrosine kinase inhibition in acute lymphoblastic leukemia.
Hegde S, Gasilina A, Wunderlich M, Lin Y, Buchholzer M, Krumbach OHF, Akbarzadeh M, Ahmadian MR, Seibel W, Zheng Y, Perentesis JP, Mizukawa BE, Vinnedge LP, Cancelas JA, Nassar NN. Hegde S, et al. Among authors: buchholzer m. Leukemia. 2022 Mar;36(3):637-647. doi: 10.1038/s41375-021-01455-3. Epub 2021 Oct 28. Leukemia. 2022. PMID: 34711926 Free PMC article.
The Pseudo-Natural Product Rhonin Targets RHOGDI.
Akbarzadeh M, Flegel J, Patil S, Shang E, Narayan R, Buchholzer M, Kazemein Jasemi NS, Grigalunas M, Krzyzanowski A, Abegg D, Shuster A, Potowski M, Karatas H, Karageorgis G, Mosaddeghzadeh N, Zischinsky ML, Merten C, Golz C, Brieger L, Strohmann C, Antonchick AP, Janning P, Adibekian A, Goody RS, Ahmadian MR, Ziegler S, Waldmann H. Akbarzadeh M, et al. Among authors: buchholzer m. Angew Chem Int Ed Engl. 2022 Apr 25;61(18):e202115193. doi: 10.1002/anie.202115193. Epub 2022 Mar 2. Angew Chem Int Ed Engl. 2022. PMID: 35170181 Free PMC article.
Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues.
Nakhaei-Rad S, Haghighi F, Bazgir F, Dahlmann J, Busley AV, Buchholzer M, Kleemann K, Schänzer A, Borchardt A, Hahn A, Kötter S, Schanze D, Anand R, Funk F, Kronenbitter AV, Scheller J, Piekorz RP, Reichert AS, Volleth M, Wolf MJ, Cirstea IC, Gelb BD, Tartaglia M, Schmitt JP, Krüger M, Kutschka I, Cyganek L, Zenker M, Kensah G, Ahmadian MR. Nakhaei-Rad S, et al. Among authors: buchholzer m. Commun Biol. 2023 Jun 21;6(1):657. doi: 10.1038/s42003-023-05013-8. Commun Biol. 2023. PMID: 37344639 Free PMC article.
21 results