Defective protein translation as a pathogenic mechanism of peripheral neuropathy

Project Information

CMTaaRS

Grant agreement ID: 770244

DOI

10.3030/770244

Project closed

EC signature date 31 January 2018

Start date 1 June 2018

End date 31 May 2024

Funded under

• EXCELLENT SCIENCE - European Research Council (ERC)

Total cost

€ 2 000 000,00

EU contribution

€ 2 000 000,00

Coordinated by

STICHTING RADBOUD UNIVERSITEIT
Netherlands

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Publications

Peer reviewed articles (15)

Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila

Author(s): Michaela Fenckova; Villo Muha; Daniel Mariappa; Marica Catinozzi; Ignacy Czajewski; Laura E. R. Blok; Andrew T. Ferenbach; Erik Storkebaum; Annette Schenck; Daan M. F. van Aalten
Published in: Plos Genetics, Issue 18(5): e1010159, 2022, ISSN 1553-7390
Publisher: Public Library of Science
DOI: 10.1371/journal.pgen.1010159

THRONCAT: Efficient metabolic labeling of newly synthesized proteins using a bioorthogonal threonine analog

Author(s): Bob J. Ignacio; Jelmer Dijkstra; Natalia Mora Garcia; Erik F.J. Slot; Margot J. van Weijsten; Erik Storkebaum; Michiel Vermeulen; Kimberly M. Bonger
Published in: Nature Communications, Issue 14, 3367, 2023, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1101/2022.03.29.486210

Glycolic acid and D-lactate – putative products of DJ-1 – restore neurodegeneration in FUS- and SOD1-ALS

Author(s): Pal A, Grossmann D, Glaß H, Zimyanin V, Günther R, Catinozzi M, Boeckers TM, Sterneckert J, Storkebaum E, Petri S, Wegner F, Grill SW, Pan-Montojo F, Hermann A
Published in: Life Science Alliance, 2024, ISSN 2575-1077
Publisher: EMBO-press
DOI: 10.26508/lsa.202302535

Messenger RNA translation defects in neurodegenerative diseases

Author(s): Storkebaum E, Rosenblum K, Sonenberg N.
Published in: New Engl J Med, 2023, Page(s) 388(11): 1015-30, ISSN 0028-4793
Publisher: Massachusetts Medical Society
DOI: 10.1056/nejmra2215795

tRNA dysregulation in neurodevelopmental and neurodegenerative diseases

Author(s): Burgess RW, Storkebaum
Published in: Annu Rev Cell Dev Biol, 2023, Page(s) 39: 223-252, ISSN 1081-0706
Publisher: Annual Reviews, Inc.
DOI: 10.1146/annurev-cellbio-021623-124009

tRNA overexpression rescues peripheral neuropathy caused by mutations in tRNA synthetase

Author(s): Amila Zuko, Moushami Mallik, Robin Thompson, Emily Spaulding, Anne Wienand, Marije Been, Abigail Tadenev, Nick van Bakel, Céline Sijlmans, Leonardo Santos, Julia Bussmann, Marica Catinozzi, Sarada Das, Divita Kulshrestha, Robert Burgess, Zoya Ignatova, Erik Storkebaum
Published in: Science, Issue Vol 373; Issue 6559, 2021, Page(s) 1161-1166, ISSN 0036-8075
Publisher: American Association for the Advancement of Science
DOI: 10.1126/science.abb3356

Exploring the brain epitranscriptome : perspectives from the NSAS summit.

Author(s): Lee S, Koo B, Carré C, Fischer A, He C, Kumar A, Liu K, Meyer KD, Ming G, Peng J, Roignant J, Storkebaum E, Sun S, De Pietri Tonelli D, Wang Y, Weng Y, Pulvirenti L, Shi Y, Yoon K, Song H.
Published in: Front Neurosci, Issue 17, 1291446, 2023, ISSN 1662-4548
Publisher: Frontiers Research Foundation
DOI: 10.3389/fnins.2023.1291446

The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy

Author(s): 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
Published in: Science, Issue Vol 373, Issue 6559, 2021, Page(s) 1156-1161, ISSN 0036-8075
Publisher: American Association for the Advancement of Science
DOI: 10.1126/science.abb3414

Integrative genetic analysis illuminates ALS heritability and identifies risk genes

Author(s): Salim Megat, Natalia Mora, Jason Sanogo, Olga Roman, Alberto Catanese, Najwa Ouali Alami, Axel Freischmidt, Xhuljana Mingaj, Hortense De Calbiac, François Muratet, Sylvie Dirrig-Grosch, Stéphane Dieterle, Nick Van Bakel, Kathrin Müller, Kirsten Sieverding, Jochen Weishaupt, Peter Munch Andersen, Markus Weber, Christoph Neuwirth, Markus Margelisch, Andreas Sommacal, Kristel R. Van Eijk, Jan H. V
Published in: Nature Communications, Issue 14, 342, 2023, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-022-35724-1

Xrp1 genetically interacts with the ALS-associated FUS orthologue caz and mediates its toxicity

Author(s): Moushami Mallik, Marica Catinozzi, Clemens B. Hug, Li Zhang, Marina Wagner, Julia Bussmann, Jonas Bittern, Sina Mersmann, Christian Klämbt, Hannes C.A. Drexler, Martijn A. Huynen, Juan M. Vaquerizas, Erik Storkebaum
Published in: The Journal of Cell Biology, Issue 217/11, 2018, Page(s) 3947-3964, ISSN 0021-9525
Publisher: Rockefeller University Press
DOI: 10.1083/jcb.201802151

Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation

Author(s): Marcel Naumann, Arun Pal, Anand Goswami, Xenia Lojewski, Julia Japtok, Anne Vehlow, Maximilian Naujock, René Günther, Mengmeng Jin, Nancy Stanslowsky, Peter Reinhardt, Jared Sterneckert, Marie Frickenhaus, Francisco Pan-Montojo, Erik Storkebaum, Ina Poser, Axel Freischmidt, Jochen H. Weishaupt, Karlheinz Holzmann, Dirk Troost, Albert C. Ludolph, Tobias M. Boeckers, Stefan Liebau, Susanne Petri,
Published in: Nature Communications, Issue 9/1, 2018, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-017-02299-1

FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis

Author(s): Gina Picchiarelli, Maria Demestre, Amila Zuko, Marije Been, Julia Higelin, Stéphane Dieterlé, Marc-Antoine Goy, Moushami Mallik, Chantal Sellier, Jelena Scekic-Zahirovic, Li Zhang, Angela Rosenbohm, Céline Sijlmans, Amr Aly, Sina Mersmann, Inmaculada Sanjuan-Ruiz, Annemarie Hübers, Nadia Messaddeq, Marina Wagner, Nick van Bakel, Anne-Laurence Boutillier, Albert Ludolph, Clotilde Lagier-Tourenn
Published in: Nature Neuroscience, Issue 22/11, 2019, Page(s) 1793-1805, ISSN 1097-6256
Publisher: Nature Publishing Group
DOI: 10.1038/s41593-019-0498-9

C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A

Author(s): Thomas G. Moens, Teresa Niccoli, Katherine M. Wilson, Magda L. Atilano, Nicol Birsa, Lauren M. Gittings, Benedikt V. Holbling, Miranda C. Dyson, Annora Thoeng, Jacob Neeves, Idoia Glaria, Lu Yu, Julia Bussmann, Erik Storkebaum, Mercedes Pardo, Jyoti S. Choudhary, Pietro Fratta, Linda Partridge, Adrian M. Isaacs
Published in: Acta Neuropathologica, Issue 137/3, 2019, Page(s) 487-500, ISSN 0001-6322
Publisher: Springer Verlag
DOI: 10.1007/s00401-018-1946-4

The Drosophila FUS ortholog cabeza promotes adult founder myoblast selection by Xrp1-dependent regulation of FGF signaling

Author(s): Marica Catinozzi, Moushami Mallik, Marie Frickenhaus, Marije Been, Céline Sijlmans, Divita Kulshrestha, Ioannis Alexopoulos, Manuela Weitkunat, Frank Schnorrer, Erik Storkebaum
Published in: PLOS Genetics, Issue 16/4, 2020, Page(s) e1008731, ISSN 1553-7404
Publisher: PLOS
DOI: 10.1371/journal.pgen.1008731

Immunoprecipitation assay to quantify the amount of tRNAs associated with their interacting proteins in tissue and cell culture

Author(s): Sarada Das, Amila Zuko, Robin Thompson, Erik Storkebaum, Zoya Ignatova
Published in: Bio-protocol, Issue 12(04): e4335, 2022, ISSN 2331-8325
Publisher: American Association for the Advancement of Science
DOI: 10.21769/bioprotoc.4335

Intellectual Property Rights

Patent (1)

TRNA OVEREXPRESSION AS A THERAPEUTIC APPROACH FOR CHARCOT-MARIE-TOOTH NEUROPATHY ASSOCIATED WITH MUTATIONS IN TRNA SYNTHETASES

Application/Publication number: 21 702747
Date: 2021-01-27
Applicant(s): STICHTING RADBOUD UNIVERSITEIT