Generation and Characterization of a CRISPR/Cas9-Mediated SNAP29 Knockout in Human Fibroblasts

Loss-of-function mutations in the synaptosomal-associated protein 29 (SNAP29) lead to the rare autosomal recessive neurocutaneous cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome. SNAP29 is a soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE)...

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Detalles Bibliográficos
Autores principales: Martens, Marie Christine, Edelkamp, Janin, Seebode, Christina, Schäfer, Mirijam, Stählke, Susanne, Krohn, Saskia, Jung, Ole, Murua Escobar, Hugo, Emmert, Steffen, Boeckmann, Lars
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8157373/
https://www.ncbi.nlm.nih.gov/pubmed/34069872
http://dx.doi.org/10.3390/ijms22105293

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