Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system

Abstract Familial dysautonomia (FD) is a rare recessive neurodevelopmental disease caused by a splice mutation in the Elongator acetyltransferase complex subunit 1 (ELP1) gene. This mutation results in a tissue-specific reduction of ELP1 protein, with the lowest levels in the central and peripheral...

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الحاوية / القاعدة:	Scientific Reports
المؤلفون الرئيسيون:	Ricardo Harripaul, Elisabetta Morini, Monica Salani, Emily Logan, Emily Kirchner, Jessica Bolduc, Anil Chekuri, Benjamin Currall, Rachita Yadav, Serkan Erdin, Michael E. Talkowski, Dadi Gao, Susan Slaugenhaupt
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	Nature Portfolio 2024-01-01
الوصول للمادة أونلاين:	https://doi.org/10.1038/s41598-023-51137-6