Article
Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.
EMBO molecular medicine - 8 Nov 2023
Theil Arjan F, Pines Alex, Kalayci Tuğba, Heredia-Genestar José M, Raams Anja, Rietveld Marion H, Sridharan Sriram, Tanis Sabine Ej, Mulder Klaas W, Büyükbabani Nesimi, Karaman Birsen, Uyguner Zehra O, Kayserili Hülya, Hoeijmakers Jan Hj, Lans Hannes, Demmers Jeroen Aa, Pothof Joris, Altunoglu Umut, El Ghalbzouri Abdoelwaheb, Vermeulen Wim
Abstract excerpt
The brittle hair syndrome Trichothiodystrophy (TTD) is characterized by variable clinical features, including photosensitivity, ichthyosis, growth retardation, microcephaly, intellectual disability, hypogonadism, and anaemia. TTD-associated mutations typically cause unstable mutant proteins involved in various steps of gene expression, severely reducing steady-state mutant protein levels. However, to date, no...
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