The Function of the <i>NBAS</i> Has Been Revealed, Will the Same Happen with Its Multisystem Pathologies?-Reference-Cited by-同舟云学术

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

Published:2023-04-01 Issue:4 Volume:59 Page:371-380
ISSN:0016-6758
Container-title:Генетика
language:
Short-container-title:Genetika

Author:

Zhozhikov L. R.¹,Vasilev F. F.¹,Maksimova N. R.¹

Affiliation:

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

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.

Publisher

The Russian Academy of Sciences

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