Selected Histone Deacetylase Inhibitors Reverse the Frataxin Transcriptional Defect in a Novel Friedreich’s Ataxia Induced Pluripotent Stem Cell-Derived Neuronal Reporter System

por Schreiber, Anna M., Li, Yanjie, Chen, Yi-Hsien, Napierala, Jill S., Napierala, Marek
Publicado 2022

Somatic instability of the expanded GAA repeats in Friedreich’s ataxia

por Long, Ashlee, Napierala, Jill S., Polak, Urszula, Hauser, Lauren, Koeppen, Arnulf H., Lynch, David R., Napierala, Marek
Publicado 2017

Comparative multi-omic analyses of cardiac mitochondrial stress in three mouse models of frataxin deficiency

por Sayles, Nicole M., Napierala, Jill S., Anrather, Josef, Diedhiou, Nadège, Li, Jixue, Napierala, Marek, Puccio, Hélène, Manfredi, Giovanni
Publicado 2023

Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers

por Napierala, Jill Sergesketter, Li, Yanjie, Lu, Yue, Lin, Kevin, Hauser, Lauren A., Lynch, David R., Napierala, Marek
Publicado 2017

Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin

por Fil, Daniel, Conley, Robbie L., Zuberi, Aamir R., Lutz, Cathleen M., Gemelli, Terry, Napierala, Marek, Napierala, Jill S.
Publicado 2023

Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich’s ataxia...

por Li, Yanjie, Li, Jixue, Wang, Jun, Zhang, Siyuan, Giles, Keith, Prakash, Thazha P, Rigo, Frank, Napierala, Jill S, Napierala, Marek
Publicado 2022

The current state of biomarker research for Friedreich’s ataxia: a report from the 2018 FARA biomarker meeting

por Blair, Ian A, Farmer, Jennifer, Hersch, Steven, Larkindale, Jane, Lynch, David R, Napierala, Jill, Napierala, Marek, Payne, R Mark, Subramony, Sub H
Publicado 2019

Potential biomarker identification for Friedreich’s ataxia using overlapping gene expression patterns in patient cells and mouse dorsal root ganglion

por McMackin, Marissa Z., Durbin-Johnson, Blythe, Napierala, Marek, Napierala, Jill S., Ruiz, Luis, Napoli, Eleonora, Perlman, Susan, Giulivi, Cecilia, Cortopassi, Gino A.
Publicado 2019

A Comprehensive Transcriptome Analysis Identifies FXN and BDNF as Novel Targets of miRNAs in Friedreich’s Ataxia Patients

por Misiorek, Julia O., Schreiber, Anna M., Urbanek-Trzeciak, Martyna O., Jazurek-Ciesiołka, Magdalena, Hauser, Lauren A., Lynch, David R., Napierala, Jill S., Napierala, Marek
Publicado 2020

Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia

por 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.
Publicado 2020

Targeting 3′ and 5′ untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression

por Li, Yanjie, Li, Jixue, Wang, Jun, Lynch, David R, Shen, Xiulong, R. Corey, David, Parekh, Darshan, Bhat, Balkrishen, Woo, Caroline, Cherry, Jonathan J, Napierala, Jill S, Napierala, Marek
Publicado 2021

Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich’s ataxia

por 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
Publicado 2022

Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response

por 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.
Publicado 2022

Reverse Phase Protein Array Reveals Correlation of Retinoic Acid Metabolism With Cardiomyopathy in Friedreich's Ataxia

por Napierala, Jill S., Rajapakshe, Kimal, Clark, Amanda, Chen, Yu-Yun, Huang, Shixia, Mesaros, Clementina, Xu, Peining, Blair, Ian A., Hauser, Lauren A., Farmer, Jennifer, Lynch, David R., Edwards, Dean P., Coarfa, Cristian, Napierala, Marek
Publicado 2021