Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
- V. Campuzano, L. Montermini, M. Pandolfo
- BiologyScience
- 8 March 1996
A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
- M. Koenig, E. Hoffman, C. Bertelson, A. Monaco, C. Feener, L. Kunkel
- BiologyCell
- 31 July 1987
Clinical and genetic abnormalities in patients with Friedreich's ataxia.
The clinical spectrum of Friedreich's ataxia is broader than previously recognized, and the direct molecular test for the GAA expansion on chromosome 9 is useful for diagnosis, determination of prognosis, and genetic counseling.
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
The authors' models demonstrate time-dependent intramitochondrial iron accumulation in a frataxin-deficient mammal, which occurs after onset of the pathology and after inactivation of the Fe-S-dependent enzymes.
Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia
A deficient activity of the iron-sulphur (Fe-S) cluster-containing subunits of mitochondrial respiratory complexes I, II and III in the endomyocardial biopsy of two unrelated FRDA patients was found to be deficient.
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
The distribution and frequency of deletions spanning the entire locus suggests that many "in-frame" deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features.
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
- M. Moreira, C. Barbot, M. Koenig
- BiologyNature Genetics
- 1 October 2001
The results suggest that aprataxin is a nuclear protein with a role in DNA repair reminiscent of the function of the protein defective in ataxia-telangiectasia, but that would cause a phenotype restricted to neurological signs when mutant.
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
- V. Campuzano, L. Montermini, M. Koenig
- BiologyHuman Molecular Genetics
- 1 October 1997
The data suggest that a reduction in frataxin results in oxidative damage, given the shared clinical features between Friedreich ataxia, vitamin E deficiency and some mitochondriopathies.
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
- M. Moreira, S. Klur, M. Koenig
- Biology, MedicineNature Genetics
- 8 February 2004
The causative mutations in AOA2 are identified in 15 families, which allows this entity to be clinically defined by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein.
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