Novel Genetic Cause for Neurodevelopmental Defects

Mancini, Grazia M. S.; Doosti, Mohammad; Turner, Lisbeth; Savatt, Juliann M.; Crunk, Amy; Person, Richard; Maroofian, Reza; Houlden, Henry; Bibi, Farah; Rana, Nuzhat; Zafar, Faisal; Karimiani, Ehsan Ghayoor; Saadi, Nebal Waill; Mastroberardino, Pier Giorgio; Fornerod, Maarten; Jovanov-Milošević, Nataša; Verdijk, Robert; Kros, Johan M.; Jansen, Anna C.; Van der Spek, Peter J.; Kayserili, Hülya; Lequin, Maarten H.; Akhondian, Javad; Efthymiou, Stephanie; Tlili-Graiess, Kalthoum; Alwabel, Abdulmalik A.; Bahi-Buisson, Nadia; Post, Marco; Börklü-Yücel, Esra; Brock, Stefanie; Pilz, Daniela T.; Fry, Andrew E.; Kasteleijn, Esmee; Smits, Daphne J.; Milanese, Chiara; Schot, Rachel; Sánchez-Soler, María José; van Slegtenhorst, Marjon; Al Hashem, Amal; Bertoli-Avella, Aida M.; Nikkels, Peter G J; Fawcett, Katherine A.; de Vries, Linda S.; Oegema, Renske; Tan, Wen-Hann; Coury, Stephanie A.; Afenjar, Alexandra; Keren, Boris; Vandervore, Laura V.

Novel Genetic Cause for Neurodevelopmental Defects

Laura V. Vandervore Rachel Schot Chiara Milanese, PHD Daphne J. Smits Esmee Kasteleijn Andrew E. Fry Daniela T. Pilz Stefanie Brock Esra Börklü-Yücel Marco Post Nadia Bahi-Buisson, MD PhD María José Sánchez-Soler Marjon van Slegtenhorst Boris Keren, PhD, MD Alexandra Afenjar Stephanie A. Coury Wen-Hann Tan, MD Renske Oegema, MD Linda S. de Vries Katherine A. Fawcett Peter G J Nikkels, Dr. Aida M. Bertoli-Avella, MD Amal Al Hashem Abdulmalik A. Alwabel Kalthoum Tlili-Graiess Stephanie Efthymiou, BSc MSc PhD Faisal Zafar Nuzhat Rana Farah Bibi Henry Houlden, MD PhD Reza Maroofian, PhD Richard Person Amy Crunk Juliann M. Savatt Lisbeth Turner Mohammad Doosti, PhD Ehsan Ghayoor Karimiani, MD MRes PhD Nebal Waill Saadi Javad Akhondian Maarten H. Lequin Hülya Kayserili Peter J. Van der Spek, Prof. Dr. Ing. Anna C. Jansen Johan M. Kros Robert Verdijk, MD PhD Nataša Jovanov-Milošević, PhD Associate Professor Maarten Fornerod Pier Giorgio Mastroberardino Grazia M. S. Mancini

November 12, 2019

TMX2 is a Crucial Regulator of Cellular Redox State, and its Dysfunction Causes Severe Brain Developmental Abnormalities

Many proteins are crucial for proper brain development. By showing that certain neurodevelopmental defects are associated with mutations in TMX2, this study adds an enzyme of the redox signaling pathway to the list of vital proteins. These findings, which were partially based on data generated at CENTOGENE, were published in the American Journal of Human Genetics.

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