Investigating the Pathogenic Mechanism of a C-Terminal Desmoplakin (DSP) Mutation in Palmoplantar Keratoderma through Gene Knockdown in HaCaT Keratinocytes and Comparative Quantitative Proteomic Analysis to Identify Dysregulated Signaling Pathways
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ABSTRACT: We identified a C-terminal mutation in the Desmoplakin (DSP) gene in a patient with palmoplantar keratoderma (PPK). To explore the pathogenic mechanism, we knocked down DSP expression in human HaCaT keratinocytes and performed a comparative proteomic analysis with normal cells. This study aims to elucidate the role of DSP mutations in PPK pathogenesis.
ORGANISM(S): Homo Sapiens
SUBMITTER:
Longnian Li
PROVIDER: PXD070791 | iProX | Fri Nov 14 00:00:00 GMT 2025
REPOSITORIES: iProX
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