Author

Arianna Franca Anzmann

Johns Hopkins UniversityORCID 0000-0002-7368-6918Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Research Focus:differential expression· 3 Organism:human· 3 Assay:metabolomics· 2 Assay:proteomics· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1

Frequent Co-Authors

Hilary J. VernoniD· 2 shared Olivia Sniezek CarneyiD· 2 shared Steven Michael ClaypooliD· 2 shared Alexandra M. PadoiD· 1 shared Anne Hamacher‐BradyiD· 1 shared Anne LeiD· 1 shared Brian James KirschiD· 1 shared Courtney E. Woods· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersCell Biology

Hilary J. VernonORCID

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3 papers

Recent·Most cited

Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth Syndrome

Olivia Sniezek Carney, Kodi William Harris, Yvonne Wohlfarter, Kyuna Lee, Grant J. Butschek, Arianna Franca Anzmann, Steven Michael Claypool, Anne Hamacher‐Brady, Markus Andreas Keller, Hilary J. Vernon

This study uses stem cell models to investigate tissue-specific pathologies in Barth Syndrome caused by TAFAZZIN deficiency, identifying mitophagy defects and potential therapeutic targets.

Human Molecular Genetics · Oct 29, 2024Peer-reviewedCell Biology

Barth syndrome cellular models have dysregulated respiratory chain complex I and mitochondrial quality control due to abnormal cardiolipin

Arianna Franca Anzmann, Olivia Sniezek Carney, Alexandra M. Pado, Veronica F. Busa, Frédéric Maxime Vaz, Simion D. Kreimer, Robert Norman Cole, Anne Le, Brian James Kirsch, Steven Michael Claypool, Hilary J. Vernon

The paper identifies mitochondrial respiratory chain complex I and quality control dysregulation in TAZ-deficient cells and shows partial remediation via cardiolipin modulation.

bioRxiv · Jan 6, 2021 · PreprintGenetics

Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation.

Julie A. Jurgens, Suming Chen, Nara Lygia de Macena Sobreira, Sarah Robbins, Arianna Franca Anzmann, Raha Maryam Dastgheyb, Saja S. Khuder, Julie Elizabeth Hoover-Fong, Courtney E. Woods, Felicity A. Collins, John Christodoulou, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Wagner Antonio da Rosa Baratela, Sophie D. Curie, , David L. Valle

This study investigates the effects of PCYT1A variants on lipid metabolism, chondrocyte differentiation, and lipid droplet formation using cellular models and lipidomics.

bioRxiv · Dec 19, 2019 · PreprintGenetics