Friedreich's ataxia (FRDA) is an autosomal-recessive neurodegenerative and cardiac disorder which occurs when transcription of the FXN gene is silenced due to an excessive expansion of GAA repeats into its first intron. Herein, we generate dorsal root ganglia organoids (DRG organoids) by in ...
Sticky DNA, a Self-associated Complex Formed at Long GAA·TTC Repeats in Intron 1 of the Frataxin Gene, Inhibits TranscriptionSticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription.Repeat-induced epigenetic changes in intron...
Friedreich ataxia (FRDA) is associated with a GAA-trinucleotide-repeat expansion in the first intron of the FXN gene (9q13–21), which encodes a 210-amino-acid protein named frataxin. More than 95% of patients are homozygous for 90–1,300 repeat expansion on both alleles. The remaining pa...
VI.Frataxin Gene Structure and Expression The Friedreichataxiagene (FRDA) is localized in the proximal long arm ofchromosome 9(Chamberlain et al., 1988). The main mRNA has a size of 1.3 Kb and corresponds to five exons, numbered 1 to 5a (Campuzano et al., 1996). The encoded protein,...
Frataxinis a smallmitochondrial proteinwhose exact function has been the focus of intense studies for the last decade since the identification of theFRDAgene[1]. Several functions have been proposed forfrataxinincluding a role in the biogenesis of heme and iron–sulfur clusters (ISCs)[9–18], mi...
Gene Symbol FXN Gene ID (NCBI) 2395 RRID AB_2231876 Conjugate Unconjugated Form Liquid Purification Method Antigen affinity purification UNIPROT ID Q16595 Storage Buffer PBS with 0.02% sodium azide and 50% glycerol pH 7.3. Storage Conditions Store at -20°C. Stable for one year after shipment...
适当替换氨基酸是本领域公知的技术,所述技术可以很容易地被实施并且确保不改变所得分子的生物活性。这些技术使本领域人员认识到,一般来说,在一种多肽的非必要区域改变单个氨基酸基本上不会改变生物活性。见watson等,molecular biology of the gene,第四版,1987,the benjamin/cummings pub.co.p224。
Friedreich’s ataxia (FRDA) is a severe neurodegenerative disease caused by GAA repeat expansion within the first intron of the frataxin gene. It has been suggested that the repeat is responsible for the disease severity due to impaired transcription thereby reducing expression of the protein. Howeve...
Frataxin gene (FXN) expression is reduced in Friedreich’s ataxia patients due to an increase in the number of GAA trinucleotides in intron 1. The frataxin protein, encoded by that gene, plays an important role in mitochondria’s iron metabolism. Platinum TALE (plTALE) proteins targeting the...
Therapeutic implications- Frataxin supplementation is being attempted either by direct delivery of frataxin protein (protein replacement therapy) (Britti et al., 2018; Vyas et al., 2012) or via delivery of a normal copy of the FXN gene via gene therapy (gene replacement therapy) (Gerard et ...