The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia

2000 ◽  
Vol 78 (11) ◽  
pp. 626-632 ◽  
Author(s):  
Nana Bit-Avragim ◽  
Andreas Perrot ◽  
Ludger Schöls ◽  
Cornelia Hardt ◽  
Friedmar R. Kreuz ◽  
...  
Keyword(s):  
Friedreich’S Ataxia ◽  
Repeat Expansion ◽  
Friedreich's Ataxia ◽  
Intron 1 ◽  
Gaa Repeat Expansion ◽  
Cardiac Manifestation ◽  
Frataxin Gene

scholarly journals A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia

2015 ◽  
Vol 8 (3) ◽  
pp. 225-235 ◽  
Author(s):  
S. Anjomani Virmouni ◽  
V. Ezzatizadeh ◽  
C. Sandi ◽  
M. Sandi ◽  
S. Al-Mahdawi ◽  
...  
Keyword(s):  
Mouse Model ◽  
Friedreich’S Ataxia ◽  
Repeat Expansion ◽  
Friedreich's Ataxia ◽  
Gaa Repeat Expansion

Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia

Neurology ◽  
1997 ◽  
Vol 49 (4) ◽  
pp. 1004-1009 ◽  
Author(s):  
D. H. Geschwind ◽  
S. Perlman ◽  
W. W. Grody ◽  
M. Telatar ◽  
L. Montermini ◽  
...  
Keyword(s):  
Friedreich’S Ataxia ◽  
Repeat Expansion ◽  
Friedreich's Ataxia ◽  
Gaa Repeat Expansion ◽  
Sporadic Ataxia

scholarly journals A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds

2013 ◽  
Vol 22 (25) ◽  
pp. 5173-5187 ◽  
Author(s):  
M. M. P. Lufino ◽  
A. M. Silva ◽  
A. H. Nemeth ◽  
J. Alegre-Abarrategui ◽  
A. J. Russell ◽  
...  
Keyword(s):  
Friedreich’S Ataxia ◽  
Repeat Expansion ◽  
Friedreich's Ataxia ◽  
Rapid Screening ◽  
Genomic Context ◽  
Gaa Repeat Expansion ◽  
Therapeutic Compounds

scholarly journals Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Pietro Giuseppe Mazzara ◽  
Sharon Muggeo ◽  
Mirko Luoni ◽  
Luca Massimino ◽  
Mattia Zaghi ◽  
...  
Keyword(s):  
Sensory Neurons ◽  
Dorsal Root Ganglia ◽  
Dorsal Root ◽  
Gene Editing ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
Frataxin Gene

scholarly journals Molecular Analysis of Friedreich's Ataxia in Macedonian Patients

2008 ◽  
Vol 11 (1) ◽  
pp. 61-64 ◽  
Author(s):  
S Kocheva ◽  
S Trivodalieva ◽  
S Vlaski-Jekic ◽  
M Kuturec ◽  
G Efremov
Keyword(s):  
Molecular Analysis ◽  
Early Onset ◽  
Trinucleotide Repeat ◽  
Neurodegenerative Disorder ◽  
Autosomal Recessive Inheritance ◽  
Friedreich’S Ataxia ◽  
Friedreich's Ataxia ◽  
The Republic ◽  
Gaa Repeats ◽  
Frataxin Gene

Molecular Analysis of Friedreich's Ataxia in Macedonian PatientsFriedreich's ataxia (FRDA) is rare a progressive neurodegenerative disorder of autosomal recessive inheritance, which is associated with an unstable expansion of a GAA trinucleotide repeat in the first intron of the frataxin gene on chromosome 9q13. We have performed molecular analyses of the frataxin gene of 40 patients with spinocerebellar ataxia from the Republic of Macedonia. Fifteen had early onset of progressive ataxia (before the age of 25), while the remainder were over 25 years old at the time of diagnosis. Only 14 patients had a mutation in the frataxin gene and all of these had early onset ataxia. The number of GAA repeats was in the normal range in 50 healthy individuals.

scholarly journals Hairpin Formation in Friedreich's Ataxia Triplet Repeat Expansion

2002 ◽  
Vol 278 (4) ◽  
pp. 2425-2431 ◽  
Author(s):  
Brooke L. Heidenfelder ◽  
Alexander M. Makhov ◽  
Michael D. Topal
Keyword(s):  
Friedreich’S Ataxia ◽  
Repeat Expansion ◽  
Friedreich's Ataxia ◽  
Triplet Repeat ◽  
Triplet Repeat Expansion ◽  
Hairpin Formation
Sign in / Sign up

Export Citation Format

Share Document