Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

Abstract 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...

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Main Authors: Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen
Format: Artigo
Sprog:Inglês
Udgivet: Springer Nature 2023-10-01
Serier:EMBO Molecular Medicine
Fag:
brittle hair phenotype
epithelial barrier function
mRNA splicing
skin differentiation
TTDN1
Online adgang:https://doi.org/10.15252/emmm.202317973
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