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HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.
Diggle CP, Moore DJ, Mali G, zur Lage P, Ait-Lounis A, Schmidts M, Shoemark A, Garcia Munoz A, Halachev MR, Gautier P, Yeyati PL, Bonthron DT, Carr IM, Hayward B, Markham AF, Hope JE, von Kriegsheim A, Mitchison HM, Jackson IJ, Durand B, Reith W, Sheridan E, Jarman AP, Mill P. Diggle CP, et al. Among authors: von kriegsheim a. PLoS Genet. 2014 Sep 18;10(9):e1004577. doi: 10.1371/journal.pgen.1004577. eCollection 2014 Sep. PLoS Genet. 2014. PMID: 25232951 Free PMC article.
Mena regulates nesprin-2 to control actin-nuclear lamina associations, trans-nuclear membrane signalling and gene expression.
Li Mow Chee F, Beernaert B, Griffith BGC, Loftus AEP, Kumar Y, Wills JC, Lee M, Valli J, Wheeler AP, Armstrong JD, Parsons M, Leigh IM, Proby CM, von Kriegsheim A, Bickmore WA, Frame MC, Byron A. Li Mow Chee F, et al. Among authors: von kriegsheim a. Nat Commun. 2023 Mar 23;14(1):1602. doi: 10.1038/s41467-023-37021-x. Nat Commun. 2023. PMID: 36959177 Free PMC article.
Scaffold coupling: ERK activation by trans-phosphorylation across different scaffold protein species.
Martín-Vega A, Ruiz-Peinado L, García-Gómez R, Herrero A, de la Fuente-Vivas D, Parvathaneni S, Caloto R, Morante M, von Kriegsheim A, Bustelo XR, Sacks DB, Casar B, Crespo P. Martín-Vega A, et al. Among authors: von kriegsheim a. Sci Adv. 2023 Feb 15;9(7):eadd7969. doi: 10.1126/sciadv.add7969. Epub 2023 Feb 15. Sci Adv. 2023. PMID: 36791195 Free PMC article.
KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability.
Yeyati PL, Schiller R, Mali G, Kasioulis I, Kawamura A, Adams IR, Playfoot C, Gilbert N, van Heyningen V, Wills J, von Kriegsheim A, Finch A, Sakai J, Schofield CJ, Jackson IJ, Mill P. Yeyati PL, et al. Among authors: von kriegsheim a. J Cell Biol. 2017 Apr 3;216(4):999-1013. doi: 10.1083/jcb.201607032. Epub 2017 Feb 28. J Cell Biol. 2017. PMID: 28246120 Free PMC article.
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. Hall EA, et al. Among authors: von kriegsheim a. Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13. Am J Hum Genet. 2017. PMID: 28413018 Free PMC article.
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond ES, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ, FitzPatrick DR. Handley MT, et al. Among authors: von kriegsheim a. PLoS Genet. 2019 Mar 11;15(3):e1007605. doi: 10.1371/journal.pgen.1007605. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30856165 Free PMC article.
129 results