• 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
Jill Sergesketter Napierala, Yan-Jie Li, Yue Lu, Kevin Lin, Lauren A. Hauser, David R. Lynch, Marek Napierala;
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
Julia Oliwia Misiorek, Anna Maria Schreiber, Martyna Olga Urbanek-Trzeciak, Lauren A. Hauser, David R. Lynch, Jill Sergesketter Napierala, Marek Napierala;
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
De-Zhen Wang, Elaine S. Ho, M. Grazia Cotticelli, Jimmy Pei-Ning Xu, Jill Sergesketter Napierala, Lauren A. Hauser, Marek Napierala, Blanca E. Himes, Robert B. Wilson, David R. Lynch, Clementina Mesaros;
Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia.
J. Lipid Res. 63:100255.1-100255.14(2022)