Science

Our Foundation funds cutting edge research to benefit those with FBXO31

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The Research

Clinical Genetics

2026

Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome)

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n-Lorem Foundation

October, 2025

Foundation research efforts identified FBXO31 disease as a candidate for ASO drug therapy, 2 patients enrolled.

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Nature

Jan 29, 2025

C-terminal amides mark proteins for degradation via SCF–FBXO31

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Perlara’s Cure Odysseys

Jan 13, 2025

FBXO31 Cure Roadmap

The first step toward a cure is a treatment, and the first step toward a treatment is a research roadmap.

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EVERY CURE

Leucovorin may help with improving verbal communication in certain individuals with ASD who have a vitamin deficiency

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American Neurological Association: Annals of Clinical and Translational Neurology

February 2021

Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome

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The University of Arizona: University Libraries

February 2020

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

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