Article

Failed Metabolic Adaptation to Stress Underlies Pathogenesis in a Heterozygous Genetic Disorder

2025-04-14

Abstract excerpt

Disorders linked to heterozygous variants occupy a continuum in terms of the timing and severity of phenotypic emergence. An important question regarding this variability entails the effect stress has on the residual protein function. Using Darier disease (DD), caused by heterozygous variants of the SERCA2 calcium pump, as a model, we uncovered a potential connection between extrinsic stress and pathogenesis. The...

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Literature Corpus work: e23b1330-61d1-51f7-ac24-3f50b3a692cd
DOI: 10.1101/2025.04.13.648535

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