Clinical Evidence for Variegated Silencing in Patients With Friedreich Ataxia

por Rodden, Layne N., Rummey, Christian, Dong, Yi Na, Lynch, David R.
Publicado 2022

Epigenetic Heterogeneity in Friedreich Ataxia Underlies Variable FXN Reactivation

por Rodden, Layne N., Gilliam, Kaitlyn M., Lam, Christina, Lynch, David R., Bidichandani, Sanjay I.
Publicado 2021

FXN gene methylation determines carrier status in Friedreich ataxia

por Lam, Christina, Gilliam, Kaitlyn M, Rodden, Layne N, Schadt, Kimberly A, Lynch, David R, Bidichandani, Sanjay
Publicado 2023

SARS-CoV-2 in patients with Friedreich ataxia

por Shen, Megan M., Rodden, Layne N., McIntyre, Kellie, Arias, Adriana, Profeta, Victoria, Schadt, Kimberly, Lynch, David R.
Publicado 2022

Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia

por Rodden, Layne N., McIntyre, Kellie, Keita, Medina, Wells, Mckenzie, Park, Courtney, Profeta, Victoria, Waldman, Amy, Rummey, Christian, Balcer, Laura J., Lynch, David R.
Publicado 2023

DNA methylation in Friedreich ataxia silences expression of frataxin isoform E

por Rodden, Layne N., Gilliam, Kaitlyn M., Lam, Christina, Rojsajjakul, Teerapat, Mesaros, Clementina, Dionisi, Chiara, Pook, Mark, Pandolfo, Massimo, Lynch, David R., Blair, Ian A., Bidichandani, Sanjay I.
Publicado 2022

Cerebellar Pathology in an Inducible Mouse Model of Friedreich Ataxia

por Mercado-Ayón, Elizabeth, Warren, Nathan, Halawani, Sarah, Rodden, Layne N., Ngaba, Lucie, Dong, Yi Na, Chang, Joshua C., Fonck, Carlos, Mavilio, Fulvio, Lynch, David R., Lin, Hong
Publicado 2022

Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia

por Rodden, Layne N, Chutake, Yogesh K, Gilliam, Kaitlyn, Lam, Christina, Soragni, Elisabetta, Hauser, Lauren, Gilliam, Matthew, Wiley, Graham, Anderson, Michael P, Gottesfeld, Joel M, Lynch, David R, Bidichandani, Sanjay I
Publicado 2021

Frataxin controls ketone body metabolism through regulation of OXCT1

por Dong, Yi NA, Mesaros, Clementina, Xu, Peining, Mercado-Ayón, Elizabeth, Halawani, Sarah, Ngaba, Lucie Vanessa, Warren, Nathan, Sleiman, Patrick, Rodden, Layne N, Schadt, Kimberly A, Blair, Ian A, Lynch, David R
Publicado 2022

A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia

por Rodden, Layne N., Rummey, Christian, Dong, Yi Na, Lagedrost, Sarah, Regner, Sean, Brocht, Alicia, Bushara, Khalaf, Delatycki, Martin B., Gomez, Christopher M., Mathews, Katherine, Murray, Sarah, Perlman, Susan, Ravina, Bernard, Subramony, S. H., Wilmot, George, Zesiewicz, Theresa, Bolotta, Alessandra, Domissy, Alain, Jespersen, Christine, Ji, Baohu, Soragni, Elisabetta, Gottesfeld, Joel M., Lynch, David R.
Publicado 2022