Generation and Characterization of a CRISPR/Cas9-Mediated
Animals
Autophagy
/ genetics
CRISPR-Cas Systems
/ genetics
Cell Differentiation
/ genetics
Cell Line
Fibroblasts
/ metabolism
Gene Knockout Techniques
/ methods
Humans
Keratoderma, Palmoplantar
/ genetics
Membrane Fusion
/ genetics
Mutation
/ genetics
Neurocutaneous Syndromes
/ genetics
Qb-SNARE Proteins
/ genetics
Qc-SNARE Proteins
/ genetics
SNARE Proteins
/ genetics
CEDNIK syndrome
CRISPR/Cas9
SNAP29
ichthyosis
lentiviral transduction
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
18 May 2021
18 May 2021
Historique:
received:
20
04
2021
revised:
07
05
2021
accepted:
11
05
2021
entrez:
2
6
2021
pubmed:
3
6
2021
medline:
24
6
2021
Statut:
epublish
Résumé
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 primary cilia, and autophagy. Recently, we reported the successful generation of two mouse models for the human CEDNIK syndrome. The aim of this investigation was the generation of a CRISPR/Cas9-mediated
Identifiants
pubmed: 34069872
pii: ijms22105293
doi: 10.3390/ijms22105293
pmc: PMC8157373
pii:
doi:
Substances chimiques
Qb-SNARE Proteins
0
Qc-SNARE Proteins
0
SNAP29 protein, human
0
SNARE Proteins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Deutsche Stiftung Dermatologie
ID : Hiwi-Stipendium 2017
Organisme : Forschungsförderung der Universitätsmedizin Rostock
ID : FORUN
Organisme : European Social Fund
ID : ESF/14-BM-A55-0001/18
Organisme : Damp Stiftung
ID : 2017-05
Organisme : Deutsche Forschungsgemeinschaft
ID : DFG EM 63/13-1
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