Associated Papers
Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.
Tomasini D et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2025
Structure, function, and pathology of protein O-glucosyltransferases.
Mehboob MZ et al.
Cell Death & Disease, 2021
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Servián-Morilla E et al.
Acta Neuropathologica, 2020
Effects of Notch glycosylation on health and diseases.
Urata Y et al.
Development, Growth & Differentiation, 2020
Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.
Ralser DJ et al.
The Journal of Investigative Dermatology, 2019
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