INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH



Hathazi, Denisa, Cox, Dan, D'Amico, Adele, Tasca, Giorgio, Charlton, Richard, Carlier, Robert-Yves, Baumann, Jennifer, Kollipara, Laxmikanth, Zahedi, Rene P, Feldmann, Ingo
et al (show 18 more authors) (2021) INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. BRAIN, 144. 2427 - 2442.

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Item Type: Article
Uncontrolled Keywords: SIL1, BiP, PHGDH, INPP5K, L-serine
Divisions: Faculty of Health and Life Sciences
Faculty of Health and Life Sciences > Institute of Systems, Molecular and Integrative Biology
Depositing User: Symplectic Admin
Date Deposited: 09 Apr 2021 08:25
Last Modified: 19 Jan 2022 08:24
DOI: 10.1093/brain/awab133
Related URLs:
URI: https://livrepository.liverpool.ac.uk/id/eprint/3118336