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While these phenotypic similarities may suggest commonalties at a molecular level, an overlapping pathomechanism has not been established yet. In this study, we present six new INPP5K patients and expand the current mutational and phenotypical spectrum of the disease showing the clinical overlap between Marinesco-Sj\u00f6gren syndrome and the INPP5K phenotype. We applied unbiased proteomic profiling on cells derived from Marinesco-Sj\u00f6gren syndrome and INPP5K patients and identified alterations in d-3-PHGDH as a common molecular feature. d-3-PHGDH modulates the production of l-serine and mutations in this enzyme were previously associated with a neurological phenotype, which clinically overlaps with Marinesco-Sj\u00f6gren syndrome and INPP5K disease. As l-serine administration represents a promising therapeutic strategy for d-3-PHGDH patients, we tested the effect of l-serine in generated sil1, phgdh and inpp5k a+b zebrafish models, which showed an improvement in their neuronal phenotype. Thus, our study defines a core phenotypical feature underpinning a key common molecular mechanism in three rare diseases and reveals a common and novel therapeutic target for these patients.<\/jats:p>","DOI":"10.1093\/brain\/awab133","type":"journal-article","created":{"date-parts":[[2021,3,31]],"date-time":"2021-03-31T03:13:52Z","timestamp":1617160432000},"page":"2427-2442","source":"Crossref","is-referenced-by-count":23,"title":["INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH"],"prefix":"10.1093","volume":"144","author":[{"given":"Denisa","family":"Hathazi","sequence":"first","affiliation":[{"name":"Leibniz -Institut f\u00fcr Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany"},{"name":"Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, CB2 0PY, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Cox","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"D'Amico","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Bambino Ges\u00f9 Children\u2019s Hospital, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0849-9144","authenticated-orcid":false,"given":"Giorgio","family":"Tasca","sequence":"additional","affiliation":[{"name":"Unit\u00e0 Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Charlton","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert-Yves","family":"Carlier","sequence":"additional","affiliation":[{"name":"AP-HP, Service d\u2019Imagerie M\u00e9dicale, Raymond Poincar\u00e9 Hospital, 92380 Garches, France"},{"name":"Inserm U 1179, University of Versailles Saint-Quentin-en-Yvelines (UVSQ), 78180 Versailles, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Baumann","sequence":"additional","affiliation":[{"name":"Leibniz -Institut f\u00fcr Analytische Wissenschaften - ISAS - e.V, Dortmund, 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