Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease.
Cell Adhesion
/ genetics
Cell Line, Tumor
Desmoglein 1
/ genetics
Desmosomal Cadherins
/ metabolism
Desmosomes
/ metabolism
Epidermis
/ metabolism
Humans
Keratoderma, Palmoplantar
/ genetics
Loss of Function Mutation
Membrane Microdomains
/ metabolism
Mutation, Missense
Protein Domains
/ genetics
Protein Stability
Journal
The Journal of investigative dermatology
ISSN: 1523-1747
Titre abrégé: J Invest Dermatol
Pays: United States
ID NLM: 0426720
Informations de publication
Date de publication:
02 2022
02 2022
Historique:
received:
02
12
2020
revised:
25
06
2021
accepted:
12
07
2021
pubmed:
6
8
2021
medline:
3
2
2022
entrez:
5
8
2021
Statut:
ppublish
Résumé
Dominant and recessive mutations in the desmosomal cadherin, desmoglein (DSG) 1, cause the skin diseases palmoplantar keratoderma (PPK) and severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome, respectively. In this study, we compare two dominant missense mutations in the DSG1 transmembrane domain (TMD), G557R and G562R, causing PPK (DSG1
Identifiants
pubmed: 34352264
pii: S0022-202X(21)01656-0
doi: 10.1016/j.jid.2021.07.154
pmc: PMC9109890
mid: NIHMS1799481
pii:
doi:
Substances chimiques
DSG1 protein, human
0
Desmoglein 1
0
Desmosomal Cadherins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
323-332.e8Subventions
Organisme : NIAMS NIH HHS
ID : R03 AR068096
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM119617
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR048266
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM008367
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR050501
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.
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