RNA sequencing and lipidomics uncovers novel pathomechanisms in recessive X-linked ichthyosis

Recessive X-linked ichthyosis (RXLI), a genetic disorder caused by deletion or point mutations of the steroid sulfatase (STS) gene, is the second most common form of ichthyosis. It is a disorder of keratinocyte cholesterol sulfate retention and the mechanism of extracutaneous phenotypes such as corn...

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Detalles Bibliográficos
Autores principales: McGeoghan, Farrell, Camera, Emanuela, Maiellaro, Miriam, Menon, Manasi, Huang, Mei, Dewan, Priya, Ziaj, Stela, Caley, Matthew P., Donaldson, Michael, Enright, Anton J., O’Toole, Edel A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10285781/
https://www.ncbi.nlm.nih.gov/pubmed/37363400
http://dx.doi.org/10.3389/fmolb.2023.1176802

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10285781/
https://www.ncbi.nlm.nih.gov/pubmed/37363400
http://dx.doi.org/10.3389/fmolb.2023.1176802

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