Friedreich ataxia: the clinical picture
M Pandolfo - Journal of neurology, 2009 - Springer
Friedreich ataxia (FRDA) is a rare autosomal recessive hereditary disorder that affects
approximately 1 in 50,000 Caucasians. It is caused by hyperexpansion of GAA repeats in …
approximately 1 in 50,000 Caucasians. It is caused by hyperexpansion of GAA repeats in …
Gene regulation and epigenetics in Friedreich's ataxia
C Yandim, T Natisvili… - Journal of …, 2013 - Wiley Online Library
This is an exciting time in the study of Friedreich's ataxia. Over the last 10 years much
progress has been made in uncovering the mechanisms, whereby the Frataxin gene is …
progress has been made in uncovering the mechanisms, whereby the Frataxin gene is …
Translocation and deletion breakpoints in cancer genomes are associated with potential non-B DNA-forming sequences
Gross chromosomal rearrangements (including translocations, deletions, insertions and
duplications) are a hallmark of cancer genomes and often create oncogenic fusion genes …
duplications) are a hallmark of cancer genomes and often create oncogenic fusion genes …
Atypical structures of GAA/TTC trinucleotide repeats underlying Friedreich's ataxia: DNA triplexes and RNA/DNA hybrids
Expansion of the GAA/TTC repeats in the first intron of the FXN gene causes Friedreich's
ataxia. Non-canonical structures are linked to this expansion. DNA triplexes and R-loops are …
ataxia. Non-canonical structures are linked to this expansion. DNA triplexes and R-loops are …
Length‐dependent structure formation in Friedreich ataxia (GAA)n·(TTC)n repeats at neutral pH
VN Potaman, EA Oussatcheva… - Nucleic acids …, 2004 - academic.oup.com
More than 15 human genetic diseases have been associated with the expansion of
trinucleotide DNA repeats, which may involve the formation of non‐duplex DNA structures …
trinucleotide DNA repeats, which may involve the formation of non‐duplex DNA structures …
Recognition of local DNA structures by p53 protein
V Brázda, J Coufal - International Journal of Molecular Sciences, 2017 - mdpi.com
p53 plays critical roles in regulating cell cycle, apoptosis, senescence and metabolism and
is commonly mutated in human cancer. These roles are achieved by interaction with other …
is commonly mutated in human cancer. These roles are achieved by interaction with other …
Conformational stability of OXA-51 β-lactamase explains its role in carbapenem resistance of Acinetobacter baumannii
V Tiwari, RR Moganty - Journal of Biomolecular Structure and …, 2014 - Taylor & Francis
Acinetobacter baumannii, an important nosocomial pathogen, is increasingly becoming
resistant to antibiotics including recent β-lactam like imipenem. Production of different types …
resistant to antibiotics including recent β-lactam like imipenem. Production of different types …
DNA triplex structures in neurodegenerative disorder, Friedreich's ataxia
MR Rajeswari - Journal of biosciences, 2012 - Springer
It is now established that a small fraction of genomic DNA does adopt the non-canonical B-
DNA structure or 'unusual'DNA structure. The unusual DNA structures like DNA-hairpin …
DNA structure or 'unusual'DNA structure. The unusual DNA structures like DNA-hairpin …
Close encounters: Moving along bumps, breaks, and bubbles on expanded trinucleotide tracts
AA Polyzos, CT McMurray - DNA repair, 2017 - Elsevier
Expansion of simple triplet repeats (TNR) underlies more than 30 severe degenerative
diseases. There is a good understanding of the major pathways generating an expansion …
diseases. There is a good understanding of the major pathways generating an expansion …
Disruption of Higher Order DNA Structures in Friedreich's Ataxia (GAA)n Repeats by PNA or LNA Targeting
H Bergquist, CSJ Rocha, R Alvarez-Asencio… - PLoS …, 2016 - journals.plos.org
Expansion of (GAA) n repeats in the first intron of the Frataxin gene is associated with
reduced mRNA and protein levels and the development of Friedreich's ataxia.(GAA) n …
reduced mRNA and protein levels and the development of Friedreich's ataxia.(GAA) n …