To further unravel this pathophysiological route here, we focused on elucidating the pathomechanism of DNAJC3-related pathology by performing proteomics in patient-derived primary fibroblasts, a suitable model to study the etiology of rare neurological diseases (Hentschel et al., 2021), and further investigation of the suggested cellular phenotype. The gene discussed is DNAJC3; the disease is nervous system disorder.