% pubman genre = article
@article{item_3553171,
title = {{Disruption of TUFT1, a Desmosome-Associated protein, causes skin fragility, woolly hair, and Palmoplantar Keratoderma}},
author = {Verkerk, Annemieke J.M.H. and Andrei, Daniela and Vermeer, Mathilde C.S.C. and Kramer, Duco and Schouten, Marloes and Arp, Pascal and Verlouw, Joost A.M. and Pas, Hendri H. and Meijer, Hillegonda J. and van der Molen, Marije and Oberdorf-Maass, Silke and Nijenhuis, Miranda and Romero-Herrera, Pedro H. and Hoes, Martijn F. and Bremer, Jeroen and Slotman, Johan A. and van den Akker,  and C., Peter and Diercks, Gilles F.H. and Giepmans, Ben N.G. and Stoop, Hans and Saris, Jasper J. and van den Ouweland,  and M.W., Ans and Willemsen, Rob and Hublin, Jean-Jacques and Dean, M.Christopher and Hoogeboom, A.Jeannette M. and Sillj{\'e}, Herman H.W. and Uitterlinden, Andr{\'e} G. and van der Meer, Peter and Bolling, Maria C.},
language = {eng},
isbn = {0022-202X},
doi = {10.1016/j.jid.2023.02.044},
publisher = {Elsevier B.V.},
year = {2024},
date = {2024-02},
abstract = {{Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss-of-function variants in desmosomal genes leads to a variety of skin- and heart-related phenotypes. In this study, we report TUFT1 as a desmosome-associated protein, implicated in epidermal integrity. In two siblings with mild skin fragility, woolly hair, and mild palmoplantar keratoderma but without a cardiac phenotype, we identified a homozygous splice-site variant in the TUFT1 gene, leading to aberrant mRNA splicing and loss of TUFT1 protein. Patients{\textquoteright} skin and keratinocytes showed acantholysis, perinuclear retraction of intermediate filaments, and reduced mechanical stress resistance. Immunolabeling and transfection studies showed that TUFT1 is positioned within the desmosome and that its location is dependent on the presence of the desmoplakin carboxy-terminal tail. A Tuft1-knockout mouse model mimicked the patients{\textquoteright} phenotypes. Altogether, this study reveals TUFT1 as a desmosome-associated protein, whose absence causes skin fragility, woolly hair, and palmoplantar keratoderma.}},
journal = {{Journal of Investigative Dermatology}},
volume = {144},
number = {2},
pages = {284--295},
eid = {e16},
}