Article
BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.
Annals of clinical and translational neurology - 1 Sept 2025
Orbach Rotem, Maio Nunziata, Butterfield Russell J, Foley A Reghan, Silverstein Sarah, Li Yan, Chao Katherine, Lehky Tanya J, Potticary Abigail, Rouault Tracey A, Donkervoort Sandra, Bönnemann Carsten G
Abstract excerpt
OBJECTIVES: To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5'-UTR regulatory variant (c.-122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation. METHODS: Deep phenotyping, research-based whole genome sequencing, biochemical characterization of identified variants, and studies in...
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