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Article

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

International journal of molecular sciences - 18 May 2021

Martens Marie Christine, Edelkamp Janin, Seebode Christina, Schäfer Mirijam, Stählke Susanne, Krohn Saskia, Jung Ole, Murua Escobar Hugo, Emmert Steffen, Boeckmann Lars

Abstract excerpt

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) protein. So far, it has been shown to be involved in membrane fusion, epidermal differentiation, formation of...

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Identifiers

PMID: 34069872
DOI: 10.3390/ijms22105293
PMCID: PMC8157373

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Generation and Characterization of a CRISPR/Cas9-Mediated SNAP29 Knockout in Human Fibroblasts.PMID 34069872Read ↗

CEDNIK syndrome results from loss-of-function mutations in SNAP29.Semantic proximity Read ↗

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