The Function of the NBAS Has Been Revealed, Will the Same Happen with Its Multisystem Pathologies?

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Abstract

Mutations in the NBAS gene cause two groups of diseases – SOPH-syndrome and Infantile liver failure syndrome type 2 (ILFS2, RALF), which differ in clinical manifestations, course, and prognosis. In the current review we focused on clinical and genetic aspects of these pathologies and molecular biology of the NBAS protein, its retrograde membrane traffic and nonsense-mediated RNA decay.

About the authors

L. R. Zhozhikov

Ammosov North-Eastern Federal University in Yakutsk, Institute of Medicine

Author for correspondence.
Email: leonid.zhozhikov@gmail.com
Russia, 677013, Yakutsk

F. F. Vasilev

Ammosov North-Eastern Federal University in Yakutsk, Institute of Medicine

Email: leonid.zhozhikov@gmail.com
Russia, 677013, Yakutsk

N. R. Maksimova

Ammosov North-Eastern Federal University in Yakutsk, Institute of Medicine

Email: leonid.zhozhikov@gmail.com
Russia, 677013, Yakutsk

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