Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin

Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin

Friedreich's ataxia (FRDA) is a neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin (FXN). Most FRDA patients are homozygous for large expansions of GAA repeats in intron 1 of FXN, while some are compound heterozygotes with an expanded GAA tract in one a...

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Bibliographic Details
Main Authors: Daniel Fil, Robbie L. Conley, Aamir R. Zuberi, Cathleen M. Lutz, Terry Gemelli, Marek Napierala, Jill S. Napierala
Format: Article
Language:English
Published: Elsevier 2023-02-01
Series:Neurobiology of Disease
Subjects:
Frataxin
Friedreich's ataxia
Mitochondria
Point mutation
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996123000104

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http://www.sciencedirect.com/science/article/pii/S0969996123000104

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