DNA Triplet Repeat Expansion and Mismatch Repair
Iyer, Ravi R, Pluciennik, Anna, Napierala, Marek, Wells, Robert D
Published in Annual review of biochemistry (01.01.2015)
Published in Annual review of biochemistry (01.01.2015)
Get full text
Journal Article
Generation of genetically modified Friedreich’s ataxia induced pluripotent stem cell lines and isogenic control lines carrying an inducible neurogenin-2 expression cassette
Miellet, Sara, Maddock, Marnie, Napierala, Jill S., Napierala, Marek, Dottori, Mirella
Published in Stem cell research (01.09.2024)
Published in Stem cell research (01.09.2024)
Get full text
Journal Article
Somatic instability of the expanded GAA repeats in Friedreich's ataxia
Long, Ashlee, Napierala, Jill S, Polak, Urszula, Hauser, Lauren, Koeppen, Arnulf H, Lynch, David R, Napierala, Marek
Published in PloS one (19.12.2017)
Published in PloS one (19.12.2017)
Get full text
Journal Article
Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich’s ataxia
Wang, Dezhen, Ho, Elaine S., Cotticelli, M. Grazia, Xu, Peining, Napierala, Jill S., Hauser, Lauren A., Napierala, Marek, Himes, Blanca E., Wilson, Robert B., Lynch, David R., Mesaros, Clementina
Published in Journal of lipid research (01.09.2022)
Published in Journal of lipid research (01.09.2022)
Get full text
Journal Article
Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency
Sayles, Nicole M, Napierala, Jill S, Anrather, Josef, Diedhiou, Nadège, Li, Jixue, Napierala, Marek, Puccio, Hélène, Manfredi, Giovanni
Published in Disease models & mechanisms (01.10.2023)
Published in Disease models & mechanisms (01.10.2023)
Get full text
Journal Article
Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers
Napierala, Jill Sergesketter, Li, Yanjie, Lu, Yue, Lin, Kevin, Hauser, Lauren A, Lynch, David R, Napierala, Marek
Published in Disease models & mechanisms (01.11.2017)
Published in Disease models & mechanisms (01.11.2017)
Get full text
Journal Article
Selected Histone Deacetylase Inhibitors Reverse the Frataxin Transcriptional Defect in a Novel Friedreich's Ataxia Induced Pluripotent Stem Cell-Derived Neuronal Reporter System
Schreiber, Anna M, Li, Yanjie, Chen, Yi-Hsien, Napierala, Jill S, Napierala, Marek
Published in Frontiers in neuroscience (23.02.2022)
Published in Frontiers in neuroscience (23.02.2022)
Get full text
Journal Article
Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich’s Ataxia Cells
Gerhardt, Jeannine, Bhalla, Angela D., Butler, Jill Sergesketter, Puckett, James W., Dervan, Peter B., Rosenwaks, Zev, Napierala, Marek
Published in Cell reports (Cambridge) (02.08.2016)
Published in Cell reports (Cambridge) (02.08.2016)
Get full text
Journal Article
Correction: Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency
Sayles, Nicole M, Napierala, Jill S, Anrather, Josef, Diedhiou, Nadège, Li, Jixue, Napierala, Marek, Puccio, Hélène, Manfredi, Giovanni
Published in Disease models & mechanisms (01.01.2024)
Published in Disease models & mechanisms (01.01.2024)
Get full text
Journal Article
Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response
Cotticelli, M Grazia, Xia, Shujuan, Truitt, Rachel, Doliba, Nicolai M, Rozo, Andrea V, Tobias, John W, Lee, Taehee, Chen, Justin, Napierala, Jill S, Napierala, Marek, Yang, Wenli, Wilson, Robert B
Published in Disease models & mechanisms (01.05.2023)
Published in Disease models & mechanisms (01.05.2023)
Get full text
Journal Article
A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich’s Ataxia Patients
Misiorek, Julia O., Schreiber, Anna M., Urbanek-Trzeciak, Martyna O., Jazurek-Ciesiołka, Magdalena, Hauser, Lauren A., Lynch, David R., Napierala, Jill S., Napierala, Marek
Published in Molecular neurobiology (01.06.2020)
Published in Molecular neurobiology (01.06.2020)
Get full text
Journal Article
Novel dopamine receptor 3 antagonists inhibit the growth of primary and temozolomide resistant glioblastoma cells
Williford, Sarah E, Libby, Catherine J, Ayokanmbi, Adetokunbo, Otamias, Arphaxad, Gordillo, Juan J, Gordon, Emily R, Cooper, Sara J, Redmann, Matthew, Li, Yanjie, Griguer, Corinne, Zhang, Jianhua, Napierala, Marek, Ananthan, Subramaniam, Hjelmeland, Anita B
Published in PloS one (04.05.2021)
Published in PloS one (04.05.2021)
Get full text
Journal Article
Potential biomarker identification for Friedreich's ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion
McMackin, Marissa Z, Durbin-Johnson, Blythe, Napierala, Marek, Napierala, Jill S, Ruiz, Luis, Napoli, Eleonora, Perlman, Susan, Giulivi, Cecilia, Cortopassi, Gino A
Published in PloS one (30.10.2019)
Published in PloS one (30.10.2019)
Get full text
Journal Article
Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia
Fil, Daniel, Chacko, Balu K, Conley, Robbie, Ouyang, Xiaosen, Zhang, Jianhua, Darley-Usmar, Victor M, Zuberi, Aamir R, Lutz, Cathleen M, Napierala, Marek, Napierala, Jill S
Published in Disease models & mechanisms (01.07.2020)
Published in Disease models & mechanisms (01.07.2020)
Get full text
Journal Article