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

doi:10.1093/brain/awab133

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Article

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

Brain : a journal of neurology - 4 Sept 2021

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

Abstract excerpt

Marinesco-Sjögren syndrome is a rare human disorder caused by biallelic mutations in SIL1 characterized by cataracts in infancy, myopathy and ataxia, symptoms which are also associated with a novel disorder caused by mutations in INPP5K. 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...

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PMID: 33792664
DOI: 10.1093/brain/awab133
PMCID: PMC8418339

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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