| Title: |
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities |
| Authors: |
Vandervore, Laura V.; Schot, Rachel; Milanese, Chiara; Smits, Daphne J.; Kasteleijn, Esmee; Fry, Andrew E.; Pilz, Daniela T.; Brock, Stefanie; Börklü-Yücel, Esra; Post, Marco; Bahi-Buisson, Nadia; Sánchez-Soler, María José; van Slegtenhorst, Marjon; Keren, Boris; Afenjar, Alexandra; Coury, Stephanie A.; Tan, Wen-Hann; Oegema, Renske; de Vries, Linda S.; Fawcett, Katherine A.; Nikkels, Peter G.J.; Bertoli-Avella, Aida; Al Hashem, Amal; Alwabel, Abdulmalik A.; Tlili-Graiess, Kalthoum; Efthymiou, Stephanie; Zafar, Faisal; Rana, Nuzhat; Bibi, Farah; Houlden, Henry; Maroofian, Reza; Person, Richard E.; Crunk, Amy; Savatt, Juliann M.; Turner, Lisbeth; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Saadi, Nebal Waill; Akhondian, Javad; Lequin, Maarten H.; Kayserili, Hülya; van der Spek, Peter J.; Jansen, Anna C.; Kros, Johan M.; Verdijk, Robert M.; Milošević, Nataša Jovanov; Fornerod, Maarten; Mastroberardino, Pier Giorgio; Mancini, Grazia M.S. |
| Contributors: |
COST; Steunfonds Marguerite-Marie Delacroix; FWO; Newlife Foundation for Disabled Children; Wales Epilepsy Research Network; Wales Gene Park; ZonMW; The Wellcome Trust; Synaptopathies; National Institute for Health Research University College London Hospitals Biomedical Research Centre; Medical Research Council; the National Institute for Health Research University College London Hospitals Biomedical Research Centre; Rosetree Trust; Ataxia UK; Multiple System Atrophy (MSA) Trust; Brain Research UK; Sparks Great Ormand Street Hospital (GOSH) Charity; Muscular Dystrophy UK; Muscular Dystrophy Association |
| Source: |
The American Journal of Human Genetics ; volume 105, issue 6, page 1126-1147 ; ISSN 0002-9297 |
| Publisher Information: |
Elsevier BV |
| Publication Year: |
2019 |
| Collection: |
ScienceDirect (Elsevier - Open Access Articles via Crossref) |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1016/j.ajhg.2019.10.009 |
| Availability: |
http://dx.doi.org/10.1016/j.ajhg.2019.10.009; https://api.elsevier.com/content/article/PII:S0002929719303970?httpAccept=text/xml; https://api.elsevier.com/content/article/PII:S0002929719303970?httpAccept=text/plain |
| Rights: |
https://www.elsevier.com/tdm/userlicense/1.0/ ; http://www.elsevier.com/open-access/userlicense/1.0/ |
| Accession Number: |
edsbas.3E66E565 |
| Database: |
BASE |