A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

2005 ◽  
Vol 253 (5) ◽  
pp. 672-673 ◽  
Author(s):  
E. Cardaioli ◽  
G. N. Gallus ◽  
P. Pozzo ◽  
A. Rufa ◽  
R. Franceschini ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Premature Termination ◽  
Novel Mutation ◽  
Premature Termination Codon ◽  
Termination Codon ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Opa1 Gene

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

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene

2003 ◽  
Vol 136 (6) ◽  
pp. 1170-1171 ◽  
Author(s):  
Patrizia Amati-Bonneau ◽  
Sylvie Odent ◽  
Christelle Derrien ◽  
Laurent Pasquier ◽  
Yves Malthiéry ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Opa1 Gene

Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy

2006 ◽  
Vol 83 (3) ◽  
pp. 702-706 ◽  
Author(s):  
Sharareh Dadgar ◽  
Olivier Hagens ◽  
Seyed Razi Dadgar ◽  
Ehsan Nobakht Haghighi ◽  
Simone Schimpf ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Structural Model ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Gtpase Domain ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy

Detection of a novel premature stop codon in the OPA1 gene in autosomal dominant optic atrophy

2012 ◽  
Vol 90 ◽  
pp. 0-0 ◽  
Author(s):  
M OLDAK ◽  
A FEDEROWICZ ◽  
K SZULBORSKI ◽  
J WIERZBOWSKA ◽  
J KOSINSKA ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Opa1 Gene

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
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