Author

Sophia Mirda Abularach

Massachusetts Institute of TechnologyORCID 0000-0002-7501-5499Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cell Biology· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 2 Research Focus:cell type annotation· 2 Approach:experimental assay· 2 Organism:human· 2

Frequent Co-Authors

Agata A. BikovtsevaiD· 2 shared John F. BatemaniD· 2 shared Kathryn M. YammineiD· 2 shared Matthew D. ShouldersiD· 2 shared Richard P. SchiavoniiD· 2 shared Seo-yeon KimiD· 2 shared Shireen R. LamandéiD· 2 shared Vincent L. ButtyiD· 2 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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2 shared papersCell Biology

Agata A. BikovtsevaORCID

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2 papers

Recent·Most cited

Failed Cellular Surveillance Enables Pathogenic Matrix Deposition in a COL2A1-Related Osteoarthritis

Kathryn M. Yammine, Sophia Mirda Abularach, Michael Xiong, Seo-yeon Kim, Agata A. Bikovtseva, Vincent L. Butty, Richard P. Schiavoni, John F. Bateman, Shireen R. Lamandé, Matthew D. Shoulders

This study uses iPSC-derived cartilage to show that the Arg719Cys COL2A1 mutation causes defective proteostasis, leading to abnormal matrix deposition and disease.

Journal of Biological Chemistry · Jul 1, 2025Peer-reviewedCell Biology

Failed Cellular Surveillance Enables Pathogenic Matrix Deposition in a COL2A1-Related Osteoarthritis

Kathryn M. Yammine, Sophia Mirda Abularach, Michael Xiong, Seo-yeon Kim, Agata A. Bikovtseva, Vincent L. Butty, Richard P. Schiavoni, John F. Bateman, Shireen R. Lamandé, Matthew D. Shoulders

The paper develops an iPSC-derived cartilage model to study COL2A1 mutations, revealing that Arg719Cys substitution causes defective collagen-II folding and secretion, leading to matrix dysfunction and osteoarthritis.

Life Science Alliance · Jul 9, 2024Peer-reviewedGenetics