Journal articles -- Source: Google Scholar 

2025:

34. SLC25A38 is required for mitochondrial pyridoxal 5’-phosphate (PLP) accumulation. Izabella A Pena*, Jeffrey S Shi, Sarah M Chang, Jason Yang, Samuel Block, Charles H Adelmann, Heather R Keys, Preston Ge, Shveta Bathla, Isabella H Witham, Grzegorz Sienski, Angus C Nairn, David M Sabatini, Caroline A Lewis, Nora Kory, Matthew G Vander Heiden, Myriam Heiman. Nature communications. 16, 978 (2025).  

*corresponding author

33.  Disorders of pyridoxine metabolism (Chapter 48). 

Izabella A Pena*, Clara van Karnebeek, Sidney M Gospe Jr. In: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease (Seventh Edition), Academic Press, 2025, Pages 859-877, ISBN 9780443191763,

*corresponding author

32. Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish. Catherine M Choueiri, Jarred Lau, Emily O’Connor, Alicia DiBattista, Brittany Y Wong, Sally Spendiff, Rita Horvath, Izabella Pena, Alexander MacKenzie, Hanns Lochmüller. 

Human Molecular Genetics, ddae171, 2024/12/4.

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