Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases.
Andreas HentschelArtur CzechUte MünchbergErik FreierUlrike Schara-SchmidtAlbert SickmannJens ReimannAndreas RoosPublished in: Orphanet journal of rare diseases (2021)
Our combined data reveal that human fibroblasts may serve as an in vitro system to study the molecular etiology of rare neurological diseases exemplified on Allgrove syndrome in an unbiased fashion.