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Author

Joseph A. Marsh

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Open access Sep 2026

Mechanism-selective deep mutational scanning distinguishes ERCC2 disease phenotypes

Pathogenic ERCC2 variants cause xeroderma pigmentosum (XP), trichothiodystrophy (TTD) or both, yet variant effect scores are usually interpreted only as measures of pathogenicity rather than of which disease mechanism is disrupted. XPD, the ERCC2-encoded TFIIH subunit, functions in both nucleotide excision repair and t...

Hasan Çubuk, Vahid Aslanzadeh, Yi-Fei Shang et al. · 0 citations
Open access Aug 2026

ER-liquid condensate contacts sequester FAM134B/C and RhoA to govern cell morphology.

Endoplasmic reticulum (ER)-phagy receptors have elusive physiological functions beyond ER remodeling. To gain insight into these, we screen for cytoplasmic interactors of well-known receptors in mouse pancreatic ductal adenocarcinoma cells. Our data subsequently reveal a non-canonical action of PRKAR1A, a subunit of pr...

Natalia Jimenez-Moreno, Arianna Karageorgiou, Katie Winnington-Ingram et al. · 0 citations

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