scholarly journals Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation

2018 ◽  
Vol 6 ◽  
Author(s):  
Alan Diot ◽  
Thomas Agnew ◽  
Jeremy Sanderson ◽  
Chunyan Liao ◽  
Janet Carver ◽  
...  
Keyword(s):  
Mouse Model ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy

scholarly journals Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function

2007 ◽  
Vol 16 (11) ◽  
pp. 1307-1318 ◽  
Author(s):  
Vanessa J. Davies ◽  
Andrew J. Hollins ◽  
Malgorzata J. Piechota ◽  
Wanfen Yip ◽  
Jennifer R. Davies ◽  
...  
Keyword(s):  
Optic Nerve ◽  
Mouse Model ◽  
Optic Atrophy ◽  
Visual Function ◽  
Autosomal Dominant ◽  
Mitochondrial Morphology ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Nerve Structure

Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy

2009 ◽  
Vol 220 (2) ◽  
pp. 404-409 ◽  
Author(s):  
Marcel V. Alavi ◽  
Nico Fuhrmann ◽  
Huu Phuc Nguyen ◽  
Patrick Yu-Wai-Man ◽  
Peter Heiduschka ◽  
...  
Keyword(s):  
Mouse Model ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Metabolic Abnormalities ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy

scholarly journals Non-Image-Forming Light Driven Functions Are Preserved in a Mouse Model of Autosomal Dominant Optic Atrophy

PLoS ONE ◽  
2013 ◽  
Vol 8 (2) ◽  
pp. e56350 ◽  
Author(s):  
Georgia Perganta ◽  
Alun R. Barnard ◽  
Christiana Katti ◽  
Athanasios Vachtsevanos ◽  
Ron H. Douglas ◽  
...  
Keyword(s):  
Mouse Model ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy

scholarly journals Mitochondrial Ca2+ uptake correlates with the severity of the symptoms in autosomal dominant optic atrophy

Cell Calcium ◽  
2015 ◽  
Vol 57 (1) ◽  
pp. 49-55 ◽  
Author(s):  
László Fülöp ◽  
Anikó Rajki ◽  
Erika Maka ◽  
Mária Judit Molnár ◽  
András Spät
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy

scholarly journals OPA3-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia

2012 ◽  
Vol 68 (2) ◽  
pp. 108-110 ◽  
Author(s):  
X. Ayrignac ◽  
C. Liauzun ◽  
G. Lenaers ◽  
D. Renard ◽  
P. Amati-Bonneau ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy

scholarly journals Autosomal dominant optic atrophy: A novel treatment of OPA1 splice defects by U1 snRNA adaption

2021 ◽  
Author(s):  
Christoph Jüschke ◽  
Thomas Klopstock ◽  
Claudia B. Catarino ◽  
Marta Owczarek-Lipska ◽  
Bernd Wissinger ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Novel Treatment ◽  
U1 Snrna

scholarly journals A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy

Brain ◽  
2006 ◽  
Vol 130 (4) ◽  
pp. 1029-1042 ◽  
Author(s):  
M. V. Alavi ◽  
S. Bette ◽  
S. Schimpf ◽  
F. Schuettauf ◽  
U. Schraermeyer ◽  
...  
Keyword(s):  
Splice Site ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Opa1 Gene
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