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Cover Image for INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH.

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 Horvath, Rita Barresi, Hanns Lochmüller, Andoni Urtizberea, Marie-Line Jacquemont, Isabelle Nelson, Laura Swan, Gisèle Bonne, Andreas Roos

Apr 08, 2021

l-serine BiP INPP5K Phgdh SIL1 Adolescent Adult Animals Child Female Guanine Nucleotide Exchange Factors Humans Inositol Polyphosphate 5-Phosphatases Male Middle Aged Muscle Skeletal Mutation Phenotype Phosphoglycerate Dehydrogenase Proteomics Spinocerebellar Degenerations Zebrafish

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