Novel Genetic Cause for Neurodevelopmental Defects
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.
Authors
- 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