Erik Storkebaum - Selected Publications#

1. Storkebaum E*, Rosenblum K, Sonenberg N. Messenger RNA translation defects in neurodegenerative diseases. New Engl J Med, 2023; 388(11): 1015-30. doi: 10.1056/NEJMra2215795. *corresponding author.

2. Burgess RW*, Storkebaum E*. tRNA dysregulation in neurodevelopmental and neurodegenerative diseases. Annu Rev Cell Dev Biol, 2023; 39: 223-252. doi: 10.1146/annurev-cellbio-021623-124009. *corresponding authors.

3. Megat S, Mora N, Sanogo J, Roman O, Catanese A, Ouali Alami N, Freischmidt A, Mingaj X, De Calbiac H, Muratet F, Dirrig-Grosch S, Dieterle S, van Bakel N, Müller K, Sieverding K, Weishaupt J, Munch Andersen P, Weber M, Neuwirth C, Margelisch M, Sommacal A, van Eijk K, Veldink J, Project Mine ALS Sequencing Consortium, Lautrette G, Couratier P, Camuzat A, Le Ber I, Grassano M, Chio A, Boeckers T, Ludolph A, Roselli F, Yilmazer-Hanke D, Millecamps S#, Kabashi E#, Storkebaum E#, Sellier C#, Dupuis L#. Integrative genetic analysis illuminates ALS heritability and identifies risk genes. Nature Communications, 2023; 14, 342. https://doi.org/10.1038/s41467-022-35724-1. #equal contribution.

4. Ignacio B, Dijkstra J, Mora Garcia N, Slot E, van Weijsten M, Storkebaum E#, Vermeulen M#, Bonger K. THRONCAT: Efficient metabolic labeling of newly synthesized proteins using a bioorthogonal threonine analog. Nature Communications, 2023; 14, 3367. https://doi.org/10.1038/s41467-023-39063-7. #equal contribution.

5. Zuko A, Mallik M, Thompson R, Spaulding E, Wienand A, Been M, Tadenev A, van Bakel N, Sijlmans C, Santos L, Bussmann J, Catinozzi M, Das S, Kulshrestha D, Burgess R, Ignatova Z, Storkebaum E. tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase. Science, 2021; 373: 1161-1166. Cover story, with accompanying ‘Perspective’ in Science. ‘Faculty Opinions’ recommendation by Benjamin Feldman.

6. Spaulding E, Hines T, Bais P, Tadenev A, Schneider R, Jewett D, Pattavina B, Pratt S, Morelli K, Stum M, Hill D, Gobet C, Pipis M, Reilly M, Jennings M, Horvath R, Bai Y, Shy M, Alvarez-Castelao, Schuman E, Bogdanik L, Storkebaum E, Burgess R. The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy. Science, 2021; 373: 1156-1161. Cover story, with accompanying ‘Perspective’ in Science.

7. Catinozzi M, Mallik M, Frickenhaus M, Been M, Sijlmans C, Kulshrestha D, Alexopoulos I, Weitkunat M, Schnorrer F, Storkebaum E. The Drosophila FUS ortholog cabeza promotes adult founder myoblast selection by Xrp1-dependent regulation of FGF signaling. PLOS Genetics, 2020; 16(4):e1008731. doi: 10.1371/journal.pgen.1008731.

8. Picchiarelli G, Demestre M, Zuko A, Been M, Higelin J, Dieterlé S, Goy M-A, Mallik M, Sellier C, Scekic-Zahirovic J, Zhang L, Rosenbohm A, Sijlmans C, Aly A, Mersmann S, Sanjuan-Ruiz I, Hübers A, Messaddeq N, Wagner M, van Bakel N, Boutillier A-L, Ludolph A, Lagier-Tourenne C, Boeckers T, Dupuis L, Storkebaum E. FUS-mediated transcriptional regulation of acetylcholine receptor at neuromuscular junctions is compromised in amyotrophic lateral sclerosis. Nature Neuroscience, 2019; 22(11):1793-1805.

9. Mallik M, Catinozzi M, Clemens H, Zhang L, Wagner M, Bussmann J, Bittern J, Mersmann S, Klämbt C, Drexler H, Huynen M, Vaquerizas J, Storkebaum E. Xrp1 genetically interacts with the ALS-associated FUS ortholog caz and mediates its toxicity. Journal of Cell Biology 2018, 217(11):3947-3964. Cover story.

10. Scekic-Zahirovic J, El Oussini H, Mersmann S, Drenner K, Wagner M, Sun Y, Allmeroth K, Dieterlé S, Sinniger J, Dirrig-Grosch S, René F, Dormann D, Haass C, Ludolph A, Lagier-Tourenne C, Storkebaum E*, Dupuis L*. Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis. Acta Neuropathologica 2017, 133(6): 887-906. *corresponding authors.

11. Storkebaum E. Peripheral neuropathy via mutant tRNA synthetases: inhibition of protein translation provides a possible explanation. BioEssays 2016; 38(9): 818-29.

12. Lange C, Storkebaum E, Ruiz de Almodovar C, Dewerchin M, Carmeliet P. Vascular endothelial growth factor: a neurovascular target in neurological diseases. Nature Reviews Neurology 2016; 12(8): 439-54.

13. Scekic-Zahirovic J, Sendscheid O, El Oussini H, Jambeau M, Ying S, Mersmann S, Wagner M, Dieterlé S, Sinniger J, Dirrig-Grosch S, Drenner K, Birling M, Qui J, Zhou Y, Li H, Fu X, Rouaux C, Shelkovnikova T, Witting A, Ludolph A, Kiefer F, Storkebaum E*, Lagier-Tourenne C*, Dupuis L*. Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss. EMBO Journal 2016; 35(10): 1077-97. *corresponding authors. IF=13.78. With accompanying News & Views and F1000Prime Recommendation from Elizabeth Fisher.

14. Niehues S, Bussmann J, Steffes G, Erdmann I, Köhrer C, Sun L, Wagner M, Schäfer K, Wang G, Koerdt SN, Stum M, RajBhandary UL, Thomas U, Aberle H, Burgess RW, Yang X-L, Dieterich D, Storkebaum E. Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases. Nature Communications 2015; 6:7520 doi: 10.1038/ncomms8520.

15. Erdmann I, Marter K, Kobler O, Niehues S, Abele J, Müller A, Bussmann J, Storkebaum E, Ziv T, Thomas U, Dieterich D. Cell-selective labeling of proteomes in Drosophila melanogaster. Nature Communications 2015; 6:7521 doi: 10.1038/ncomms8521.

16. Frickenhaus M, Wagner M, Mallik M, Catinozzi M, Storkebaum E. Highly efficient cell-type-specific gene inactivation reveals a key function for the Drosophila FUS homolog cabeza in neurons. Sci Rep 2015; 5: 9107. doi: 10.1038/srep09107.

17. Storkebaum E, Quaegebeur A, Vikkula M, Carmeliet P. Cerebrovascular disorders: molecular insights and therapeutic opportunities. Nature Neuroscience 2011; 14(11): 1390-1397.

18. Storkebaum E, Carmeliet P. Paracrine control of vascular innervation in health and disease. Acta Physiol. 2011; 203(1): 61-86.

19. Storkebaum E, Ruiz de Almodovar C, Meens M, Zacchigna S, Mazzone M, Vanhoutte G, Vinckier S, Miskiewicz K, Poesen K, Lambrechts D, Janssen G, Fazzi G, Verstreken P, Haigh J, Schiffers P, Rohrer H, Van der Linden A, De Mey J, Carmeliet P. Impaired autonomic regulation of resistance arteries in VEGF∂/∂ mice or upon VEGF-trap delivery. Circulation 2010; 122: 273-281.

20. Storkebaum E, Leitao-Gonçalves R, Godenschwege T, Nangle L, Mejia M, Bosmans I, Ooms T, Jacobs A, Van Dijck P, Yang X-L, Schimmel P, Norga K, Timmerman V, Callaerts P and Jordanova A. Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. Proc. Natl. Acad. Sci. USA 2009;106(28): 11782-11787.

21. Storkebaum E, Lambrechts D, Dewerchin M, Oh H, Vermeulen K, Van Damme P, Man WY, Demol M, Wyns S, Manka D, Van Den Bosch L., Mertens N, Robberecht W, Conway EM, Collen D, Moons L and Carmeliet P. Treatment of an aggressive form of motoneuron degeneration by intracerebroventricular delivery of recombinant VEGF in ALS animal models. Nature Neuroscience 2005 Jan;8(1):85-92.

22. Van Den Bosch L*, Storkebaum E*, Vleminckx V, Moons L, Vanopdenbosch L, Scheveneels W, Carmeliet P, Robberecht W. Effects of vascular endothelial growth factor (VEGF) on motor neuron degeneration. Neurobiol Dis. 2004 Oct;17(1):21-8. *equal contribution.

23. Storkebaum E, Lambrechts D, Carmeliet P. VEGF: once regarded as a specific angiogenic factor, now implicated in neuroprotection. BioEssays 2004 Sep;26(9):943-54.

24. Azzouz M, Ralph S, Storkebaum E, Walmsley L, Mitrophanous K, Kingsman S, Carmeliet P, Mazarakis N. VEGF delivery with retrogradely transported lentivector prolongs survival in a mouse ALS model. Nature 2004 May 27;429(6990):413-7.

25. Storkebaum E, Carmeliet P. VEGF: a critical player in neurodegeneration. J Clin Invest. 2004 Jan;113(1):14-8.

26. Lambrechts D, Storkebaum E, Morimoto M, Del-Favero J, Desmet F, Marklund SL, Wyns S, Thijs V, Andersson J, van Marion I, Al-Chalabi A, Bornes S, Musson R, Hansen V, Beckman L, Adolfsson R, Pall HS, Prats H, Vermeire S, Rutgeerts P, Katayama S, Awata T, Leigh N, Lang-Lazdunski L, Dewerchin M, Shaw C, Moons L, Vlietinck R, Morrison KE, Robberecht W, Van Broeckhoven C, Collen D, Andersen PM, Carmeliet P. VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nature Genetics 2003 Aug;34(4):383-94.

27. Carmeliet P, Storkebaum E. Vascular and neuronal effects of VEGF in the nervous system: implications for neurological disorders. Semin Cell Dev Biol. 2002 Feb;13(1):39-53.

28. Oosthuyse B, Moons L, Storkebaum E, Beck H, Nuyens D, Brusselmans K, Dorpe JV, Hellings P, Gorselink M, Heymans S, Theilmeier G, Dewerchin M, Laudenbach V, Vermylen P, Raat H, Acker T, Vleminckx V, Van Den Bosch L, Cashman N, Fujisawa H, Drost MR, Sciot R, Bruyninckx F, Hicklin DJ, Ince C, Gressens P, Lupu F, Plate KH, Robberecht W, Herbert JM, Collen D, Carmeliet P. Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration. Nature Genetics 2001 Jun;28(2):131-8.