Author

Farzana Bhuyan

National Institutes of HealthORCID 0000-0003-2316-1221Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Immunology· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Assay:proteomics· 2 Research Focus:cell signaling & trafficking· 1 Research Focus:cell type annotation· 1 Research Focus:drug response / drug discovery· 1 Research Focus:host-pathogen & immune response· 1

Frequent Co-Authors

Raphaela T. Goldbach‐ManskyiD· 3 shared Adriana A. de JesusiD· 2 shared Manfred BoehmiD· 2 shared Sara AlehashemiiD· 2 shared Alberto IannuzzoiD· 1 shared Andre T. RastegariD· 1 shared Angélique BiancottoiD· 1 shared Anna Huttenlocher AiD· 1 shared

Activity by Year

2023-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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3 shared papersNeuroscience

Raphaela T. Goldbach‐ManskyORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

NeuroscienceJournal of Clinical InvestigationPeer-reviewedAug 4, 2026

Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis

Clayton W. Winkler, Benjamin H. Schwarz, Katie Williams…·Karin E. Peterson

This study shows that proteasome mutations in CANDLE syndrome disrupt neuronal development by increasing polyamine levels through ODC dysregulation, and inhibiting ODC can reverse these effects.

DOI 10.1172/jci199140

humanspatial transcriptomics

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ImmunologyNature CommunicationsPeer-reviewedNov 16, 2024

Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation

Alberto Iannuzzo, Selket Delafontaine, Rana El Masri…·Jérôme Delon

This study identifies Golgi-trapped CDC42 variants causing STING hyperactivation and IFN elevation in autoinflammatory patients.

14 citations

humanproteomics

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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMar 17, 2023

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

Adriana A. de Jesus, Guibin Chen, Dan Yang…·Raphaela T. Goldbach‐Mansky

This study identifies de novo LYN variants causing constitutive Lyn kinase activation, leading to neutrophilic vasculitis and liver fibrosis, and shows therapeutic response to Src kinase inhibitors.

37 citationstop 5%

humanstatistical model

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