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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 el...
ORGANISM(S): Homo Sapiens 
2025-11-14 | PXD070791 |
Complex diseases often involve the interplay between genetic and environmental factors. Charcot-Marie-Tooth type 2 neuropathies (CMT2) are a group of genetically heterogeneous disorders, in which similar peripheral neuropathology is inexplicably caused by various mutated genes. Their possible molecu...
ORGANISM(S): Homo Sapiens 
2022-12-13 | PXD038754 |
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