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Article

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.

Oncogene - 29 Jan 2015

Pasmant E, Gilbert-Dussardier B, Petit A, de Laval B, Luscan A, Gruber A, Lapillonne H, Deswarte C, Goussard P, Laurendeau I, Uzan B, Pflumio F, Brizard F, Vabres P, Naguibvena I, Fasola S, Millot F, Porteu F, Vidaud D, Landman-Parker J, Ballerini P

Abstract excerpt

Constitutional dominant loss-of-function mutations in the SPRED1 gene cause a rare phenotype referred as neurofibromatosis type 1 (NF1)-like syndrome or Legius syndrome, consisted of multiple café-au-lait macules, axillary freckling, learning disabilities and macrocephaly. SPRED1 is a negative regulator of the RAS MAPK pathway and can interact with neurofibromin, the NF1 gene product. Individuals with NF1 have a...

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Source

Identifiers

PMID: 24469042
DOI: 10.1038/onc.2013.587

Genes

SPRED1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.PMID 24469042Read ↗

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.Semantic proximity Read ↗

SPRED1 disorder and predisposition to leukemia in children.Semantic proximity Read ↗

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.Semantic proximity Read ↗

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.Semantic proximity Read ↗

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1Semantic proximity Read ↗

Review and update of SPRED1 mutations causing Legius syndrome.Semantic proximity Read ↗

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.Semantic proximity Read ↗

The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.Semantic proximity Read ↗

Novel mutation in SPRED1: a sporadic case of Legius syndrome in an infant.Semantic proximity Read ↗

SPRED 1 mutations in a neurofibromatosis clinic.Semantic proximity Read ↗

<i>SPRED1</i> mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotypeSemantic proximity Read ↗

The neurofibromin recruitment factor Spred1 binds to the GAP related domain without affecting Ras inactivationSemantic proximity Read ↗

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