Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis
Sharma, Neeraj, Evans, Taylor A, Pellicore, Matthew J, Davis, Emily, Aksit, Melis A, McCague, Allison F, Joynt, Anya T, Lu, Zhongzhu, Han, Sangwoo T, Anzmann, Arianna F, Lam, Anh-Thu N, Thaxton, Abigail, West, Natalie, Merlo, Christian, Gottschalk, Laura B, Raraigh, Karen S, Sosnay, Patrick R, Cotton, Calvin U, Cutting, Garry R
Published in PLoS genetics (16.11.2018)
Published in PLoS genetics (16.11.2018)
Get full text
Journal Article
Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis
Lam, Anh-Thu N, Aksit, Melis A, Vecchio-Pagan, Briana, Shelton, Celeste A, Osorio, Derek L, Anzmann, Arianna F, Goff, Loyal A, Whitcomb, David C, Blackman, Scott M, Cutting, Garry R
Published in The Journal of clinical investigation (01.01.2020)
Published in The Journal of clinical investigation (01.01.2020)
Get full text
Journal Article
Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by cardiolipin-interacting small molecules
Anzmann, Arianna F., Sniezek, Olivia L., Pado, Alexandra, Busa, Veronica, Vaz, Frédéric M., Kreimer, Simion D., DeVine, Lauren R., Cole, Robert N., Le, Anne, Kirsch, Brian J., Claypool, Steven M., Vernon, Hilary J.
Published in The Journal of biological chemistry (01.09.2021)
Published in The Journal of biological chemistry (01.09.2021)
Get full text
Journal Article
Cardiolipin’s Remodeling Rules Revealed: The Role of the Cellular Lipidome
Sniezek, Olivia L., Anzmann, Arianna F., Claypool, Steven M., Vernon, Hilary J.
Published in Cell reports (Cambridge) (24.03.2020)
Published in Cell reports (Cambridge) (24.03.2020)
Get full text
Journal Article
Investigating Mitochondrial Dysfunction in Barth Syndrome
Sniezek, Olivia L, Anzmann, Arianna, Senoo, Nanami, Butschek, Grant, Claypool, Steven, Vernon, Hilary
Published in The FASEB journal (01.05.2022)
Published in The FASEB journal (01.05.2022)
Get more information
Journal Article
Defective cardiomyocyte mitophagy in TAFAZZIN deficiency: New implications for cellular pathogenesis in Barth syndrome
Carney, Olivia Sniezek, Lee, Kyuna, Harris, Kodi Williams, Butschek, Grant, Anzmann, Arianna, Hammacher-Brady, Anne, Vernon, Hilary
Published in Molecular genetics and metabolism (01.04.2024)
Published in Molecular genetics and metabolism (01.04.2024)
Get full text
Journal Article
Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism
Anzmann, Arianna Franca, Pinto, Sneha, Busa, Veronica, Carlson, James, McRitchie, Susan, Sumner, Susan, Pandey, Akhilesh, Vernon, Hilary J.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2019)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.12.2019)
Get full text
Journal Article
Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth Syndrome
Sniezek Carney, Olivia, Harris, Kodi William, Wohlfarter, Yvonne, Lee, Kyuna, Butschek, Grant, Anzmann, Arianna, Claypool, Steven M, Hamacher-Brady, Anne, Keller, Markus, Vernon, Hilary J
Published in bioRxiv : the preprint server for biology (29.04.2024)
Published in bioRxiv : the preprint server for biology (29.04.2024)
Get more information
Journal Article
Barth syndrome cellular models have dysregulated respiratory chain complex I and mitochondrial quality control due to abnormal cardiolipin
Anzmann, Arianna F, Sniezek, Olivia L, Pado, Alexandra, Busa, Veronica, Frédéric Maxime Vaz, Kreimer, Simion D, Cole, Robert Norman, Le, Anne, Kirsch, Brian James, Claypool, Steven M, Vernon, Hilary J
Published in bioRxiv (08.01.2021)
Published in bioRxiv (08.01.2021)
Get full text
Paper