• Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[916]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=29125828; PubMed=32291635).
  
• Mutation; HGNC; HGNC:3951; FXN; Repeat_expansion; IVS1 GAA[1382]; ClinVar=VCV000561195; Zygosity=Heterozygous (PubMed=29125828; PubMed=32291635).
  

PubMed=29125828; DOI=10.1242/dmm.030536; PMCID=PMC5719256
Napierala J.S., Li Y.-J., Lu Y., Lin K., Hauser L.A., Lynch D.R., Napierala M.
Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.
Dis. Model. Mech. 10:1353-1369(2017)

PubMed=32291635; DOI=10.1007/s12035-020-01899-1; PMCID=PMC7253519
Misiorek J.O., Schreiber A.M., Urbanek-Trzeciak M.O., Hauser L.A., Lynch D.R., Napierala J.S., Napierala M.
A comprehensive transcriptome analysis identifies FXN and BDNF as novel targets of miRNAs in Friedreich's ataxia patients.
Mol. Neurobiol. 57:2639-2653(2020)

PubMed=35850241; DOI=10.1016/j.jlr.2022.100255; PMCID=PMC9399481
Wang D.-Z., Ho E.S., Cotticelli M.G., Xu J.P.-N., Napierala J.S., Hauser L.A., Napierala M., Himes B.E., Wilson R.B., Lynch D.R., Mesaros C.
Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia.
J. Lipid Res. 63:100255.1-100255.14(2022)