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

Denisa Hathazi, Dan Cox, Adele D'Amico, Giorgio Tasca, Richard Charlton, Robert Yves Carlier, Jennifer Baumann, Laxmikanth Kollipara, René P. Zahedi, Ingo Feldmann, Jean Francois Deleuze, Annalaura Torella, Ronald Cohn, Emily Robinson, Francesco Ricci, Heinz Jungbluth, Fabiana Fattori, Anne Boland, Emily O'Connor, Rita HorvathRita Barresi, Hanns Lochmüller, Andoni Urtizberea, Marie Line Jacquemont, Isabelle Nelson, Laura Swan, Gisèle Bonne, Andreas Roos

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Biochemistry, Genetics and Molecular Biology

Pharmacology, Toxicology and Pharmaceutical Science