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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10630875/
https://www.ncbi.nlm.nih.gov/pubmed/37800682
http://dx.doi.org/10.15252/emmm.202317973

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