Publications

Journal articles -- Source: Google Scholar

2024:

31. CIAO1 and MMS19 deficiency: a lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.

Clara DM van Karnebeek, Maja Tarailo-Graovac, René Leen, Rutger Meinsma, Solenne Correard, Judith Jansen-Meijer, Sergey V Prykhozhij, Izabella A Pena, Kevin Ban, Sarah Schock, Vishal Saxena, Mia L Pras-Raves, Britt I Drögemöller, Anita E Grootemaat, Nicole N van der Wel, Doreen Dobritzsch, Winfried Roseboom, Bauke V Schomakers, Yorrick RJ Jaspers, Lida Zoetekouw, Jeroen Roelofsen, Carlos R Ferreira, Robin van der Lee, Colin J Ross, Jakub Kochan, Rebecca L McIntyre, Jan B van Klinken, Michel van Weeghel, Gertjan Kramer, Bernhard Weschke, Philippe Labrune, Michèl A Willemsen, Daria Riva, Barbara Garavaglia, John B Moeschler, James J Filiano, Marc Ekker, Jason N Berman, David Dyment, Frédéric M Vaz, Wyeth W Wassermann, Riekelt H Houtkooper, André BP van Kuilenburg.

Genetics in Medicine, 101104. 2024/2/24.

2023:

30. PLPBP Deficiency

Hilal Al-Shekaili, Jolita Ciapaite, Clara van Karnebeek, Izabella Pena*. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. https://www.ncbi.nlm.nih.gov/books/NBK589231/

*senior author/corresponding author

2021:

29. mTORC1 promotes TOP mRNA translation through site-specific phosphorylation of LARP1

Jian-Jun Jia, Roni M Lahr, Michael T Solgaard, Bruno J Moraes, Roberta Pointet, An-Dao Yang, Giovanna Celucci, Tyson E Graber, Huy-Dung Hoang, Marius R Niklaus, Izabella A Pena, Anne K Hollensen, Ewan M Smith, Malik Chaker-Margot, Leonie Anton, Christopher Dajadian, Mark Livingstone, Jaclyn Hearnden, Xu-Dong Wang, Yonghao Yu, Timm Maier, Christian K Damgaard, Andrea J Berman, Tommy Alain, Bruno D Fonseca.

Nucleic acids research 49 (6), 3461-3489

2020:

28. MCART1/SLC25A51 is required for mitochondrial NAD transport,

Nora Kory, Jelmi uit de Bos, Sanne van der Rijt, Nevena Jankovic, Miriam Güra, Nicholas Arp, Izabella A Pena, Gyan Prakash, Sze Ham Chan, Tenzin Kunchok, Caroline A Lewis, David M Sabatini.

Science Advances 6 (43), eabe5310

27. MCART1 is required for mitochondrial NAD transport.

Nora Kory, Jelmi uit de Bos, Sanne van der Rijt, Nevena Jankovic, Miriam Guera, Nicholas Arp, Izabella A Pena, Gyan Prakash, Sze Ham Chan, Tenzin Kunchok, Caroline A Lewis, David M Sabatini. Biorxiv https://doi.org/10.1101/2020.08.28.267252

26. A Novel Mouse Model for Pyridoxine-Dependent Epilepsy Due to Antiquitin Deficiency.

Hilal H Al-Shekaili, Terri L Petkau, Izabella Pena, Tess C Lengyell, Nanda M Verhoeven-Duif, Jolita Ciapaite, Marjolein Bosma, Martijn van Faassen, Ido P Kema, Gabriella Horvath, Colin Ross, Elizabeth M Simpson, Jan M Friedman, Clara Karnebeek, Blair R Leavitt.

Human Molecular Genetics, ddaa202

25. Chapter 53: Disorders of pyridoxine metabolism.

Clara van Karnebeek, Izabella A. Pena, Sidney M. Gospe.

In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease (Sixth Edition), Academic Press, 2020, Pages 711-728,

24. The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: connecting understudied genes to model organisms.

Kym M Boycott, Philippe M Campeau, Heather E Howley, Paul Pavlidis, Sanja Rogic, Christine Oriel, Jason N Berman, Robert M Hamilton, Geoffrey G Hicks, Howard D Lipshitz, Jean-Yves Masson, Eric A Shoubridge, Anne Junker, Michel R Leroux, Christopher R McMaster, Jaques L Michaud, Stuart E Turvey, David Dyment, A Micheil Innes, Clara D van Karnebeek, Anna Lehman, Ronald D Cohn, Ian M MacDonald, Richard A Rachubinski, Patrick Frosk, Anthony Vandersteen, Richard W Wozniak, Izabella A Pena, Xiao-Yan Wen, Thierry Lacaze-Masmonteil, Catharine Rankin, Philip Hieter.

The American Journal of Human Genetics 106(2) 143-152

2019:

23. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Devon L Johnstone, Hilal H Al-Shekaili, Maja Tarailo-Graovac, Nicole I Wolf, Autumn S Ivy, Scott Demarest, Yann Roussel, Jolita Ciapaite, Carlo WT van Roermund, Kristin D Kernohan, Ceres Kosuta, Kevin Ban, Yoko Ito, Skye McBride, Khalid Al-Thihli, Rana A Abdelrahim, Roshan Koul, Amna Al Futaisi, Charlotte A Haaxma, Heather Olson, Laufey Yr Sigurdardottir, Georgianne L Arnold, Erica H Gerkes, M Boon, M Rebecca Heiner-Fokkema, Sandra Noble, Marjolein Bosma, Judith Jans, David A Koolen, Erik-Jan Kamsteeg, Britt Drögemöller, Colin J Ross, Jacek Majewski, Megan T Cho, Amber Begtrup, Wyeth W Wasserman, Tuan Bui, Elise Brimble, Sara Violante, Sander M Houten, Ron A Wevers, Martijn van Faassen, Ido P Kema, Nathalie Lepage, Care4Rare Canada Consortium, Matthew A Lines, David A Dyment, Ronald JA Wanders, Nanda Verhoeven-Duif, Marc Ekker, Kym M Boycott, Jan M Friedman, Izabella A Pena*, Clara DM van Karnebeek*.

Brain 142 (3), 542-559

*co-senior author/co-corresponding author

22. A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset. Meredith K Gillespie, Hugh J McMillan, Kristin D Kernohan, Izabella A Pena, Rebecca Meyer-Schuman, Anthony Antonellis, Kym M Boycott, Care4Rare Canada Consortium.

Journal of neuromuscular diseases 6 (3), 333-339.

2018:

21. LARP1 is a major phosphorylation substrate of mTORC. Bruno D Fonseca, Jian-Jun Jia, Anne K Hollensen, Roberta Pointet, Huy-Dung Hoang, Marius R Niklaus, Izabella A Pena, Roni M Lahr, Ewan M Smith, Jaclyn Hearnden, Xu-Dong Wang, An-Dao Yang, Giovanna Celucci, Tyson E Graber, Christopher Dajadian, Yonghao Yu, Christian K Damgaard, Andrea J Berman, Tommy Alain.

bioRxiv, 491274

20. Glycine decarboxylase deficiency–induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level. Raphaelle Riche, Meijiang Liao, Izabella A Pena, Kit-Yi Leung, Nathalie Lepage, Nicolas D E Greene, Kyriakie Sarafoglou, Lisa A Schimmenti, Pierre Drapeau, Eric Samarut.

JCI Insight. 3 (21), e124642

19. A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. YA Ito, AC Smith, KD Kernohan, IA Pena, A Ahmed, LM McDonell, C Beaulieu, DE Bulman, A Smidt, SL Sawyer, DA Dyment, KM Boycott, CL Clericuzio. Clin Genet. 2018 May 30. doi: 10.1111/cge.13388

18. High-throughput DNA Extraction and Genotyping of 3dpf Zebrafish Larvae by Fin Clipping. Ceres Kosuta, Kate Daniel, Devon L Johnstone, Kevin Mongeon, Kevin Ban, Sophie LeBlanc, Stuart MacLeod, Karim Et-Tahiry, Marc Ekker, Alex MacKenzie, Izabella Pena*. J Vis Exp. 2018 Jun 29;(136). doi: 10.3791/58024.

*senior author/corresponding author

2017:

17. Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency Izabella A Pena*, Yann Roussel, Kate Daniel, Kevin Mongeon, Devon Johnstone, Hellen H Mendes, M Bosma, V Saxena, N LePage, P Chakraborty, David Dyment, Clara van Karnebeek, Nanda Verhoeven-Duif, Tuan V Bui, Kym M Boycott, M Ekker, A Mackenzie.

GENETICS Early online October 23, 2017; https://doi.org/10.1534/genetics.117.300137

*corresponding author; Article highlighted in the December 2017 edition of Genetics!!

16. Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE). IA Pena, LA Marques, ÂBA Laranjeira, JA Yunes, MN Eberlin, A MacKenzie, P Arruda

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. Vol. 12 , Iss. 1,2017. doi: 10.1016/j.bbadis.2016.09.006.

15. Current knowledge for pyridoxine-dependent epilepsy: a 2016 update. IA Pena, A MacKenzie, CDM van Karnebeek

Expert Review of Endocrinology & Metabolism, Vol. 12 , Iss. 1, 2017