Article

<i>SPRED1</i> variants reveal differential impacts on signaling dynamics

2026-07-09

Abstract excerpt

Germline loss-of-function mutations in SPRED1 impair its negative regulatory function within the RAS-MAPK signaling pathway, leading to pathway hyperactivation. Clinical sequencing of SPRED1 frequently identifies variants of uncertain significance (VUS) in patients suspected of Legius syndrome (LS), yet the functional consequences of most variants, specifically their impact on RAS-MAPK regulation, often remain u...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3a7cb059-c52a-5e71-8aa7-0d8be631d518
DOI: 10.64898/2026.07.08.26357239

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>SPRED1</i> variants reveal differential impacts on signaling dynamicsDOI 10.64898/2026.07.08.26357239Read

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.Semantic proximity Read

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

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

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.Semantic proximity Read

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

RAStoERK: a reference interaction atlas for insights into signaling and diseaseSemantic proximity Read

SPRED1 Interferes with K-ras but Not H-ras Membrane Anchorage and Signaling.Semantic proximity Read

Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms.Semantic proximity Read

Functional analysis of cancer-associated germline risk variants.Semantic proximity Read

Phenotypic Characterization of a Comprehensive Set of MAPK1/ERK2 Missense Mutants.Semantic proximity Read

Defining RASopathySemantic proximity Read

Overlapping and Distinct Functions of an Extended Repertoire of KRAS MutationsSemantic proximity Read