Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations. A b...

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Autori principali:	Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2026-05-01
Serie:	Annals of Clinical and Translational Neurology
Soggetti:	ELP1 protein assay familial dysautonomia HSAN‐III neurologic biomarker
Accesso online:	https://doi.org/10.1002/acn3.70254
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