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The second PI(3,5)P2 binding site in the S0 helix of KCNQ1 stabilizes PIP2-at the primary PI1 site with potential consequences on intermediate-to-open state transition.
Dellin M, Rohrbeck I, Asrani P, Schreiber JA, Ritter N, Glorius F, Wünsch B, Budde T, Temme L, Strünker T, Stallmeyer B, Tüttelmann F, Meuth SG, Spehr M, Matschke J, Steinbicker A, Gatsogiannis C, Stoll R, Strutz-Seebohm N, Seebohm G. Dellin M, et al. Among authors: tuttelmann f. Biol Chem. 2023 Feb 23;404(4):241-254. doi: 10.1515/hsz-2022-0247. Print 2023 Mar 28. Biol Chem. 2023. PMID: 36809224
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, O'Donnell-Luria A, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad D, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: tuttelmann f. medRxiv [Preprint]. 2023 Sep 28:2023.09.27.23294269. doi: 10.1101/2023.09.27.23294269. medRxiv. 2023. Update in: HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273 PMID: 37808847 Free PMC article. Updated. Preprint.
AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans.
Houston BJ, Nguyen J, Merriner DJ, O'Connor AE, Lopes AM, Nagirnaja L, Friedrich C, Kliesch S, Tüttelmann F, Aston KI, Conrad DF, Hobbs RM, Dunleavy JE, O'Bryan MK. Houston BJ, et al. Among authors: tuttelmann f. bioRxiv [Preprint]. 2023 Nov 13:2023.11.02.565050. doi: 10.1101/2023.11.02.565050. bioRxiv. 2023. Update in: Cell Death Dis. 2024 Jul 12;15(7):499. doi: 10.1038/s41419-024-06874-5 PMID: 38014244 Free PMC article. Updated. Preprint.
C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line.
Zoch A, Konieczny G, Auchynnikava T, Stallmeyer B, Rotte N, Heep M, Berrens RV, Schito M, Kabayama Y, Schöpp T, Kliesch S, Houston B, Nagirnaja L, O'Bryan MK, Aston KI, Conrad DF, Rappsilber J, Allshire RC, Cook AG, Tüttelmann F, O'Carroll D. Zoch A, et al. Among authors: tuttelmann f. Mol Cell. 2024 Mar 21;84(6):1021-1035.e11. doi: 10.1016/j.molcel.2024.01.014. Epub 2024 Feb 14. Mol Cell. 2024. PMID: 38359823 Free article.
128 results