Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration.
Adaptor Proteins, Signal Transducing
/ deficiency
Biopsy
Cell Adhesion
/ genetics
Cell Movement
/ genetics
Child
Epidermis
/ pathology
Epidermolysis Bullosa Simplex
/ genetics
Extracellular Vesicles
/ metabolism
Humans
Intravital Microscopy
Keratinocytes
/ pathology
Male
Mutation
Tetraspanin 30
/ metabolism
Time-Lapse Imaging
rab27 GTP-Binding Proteins
/ metabolism
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:
03 2021
03 2021
Historique:
received:
07
01
2020
revised:
17
08
2020
accepted:
18
08
2020
pubmed:
6
9
2020
medline:
9
10
2021
entrez:
5
9
2020
Statut:
ppublish
Résumé
Slac2-b, also known as exophilin-5, is a Rab27b effector protein with a role in exosome transport and is encoded by the EXPH5 gene. We previously described biallelic loss-of-function mutations in EXPH5 in an autosomal recessive form of epidermolysis bullosa simplex. However, how the loss of Slac2-b expression leads to skin fragility and erosions is unknown. In this study, we demonstrate that keratinocytes (KCs) isolated from two different individuals with mutations in EXPH5 have significant defects in cell‒matrix adhesion. EXPH5-mutant KCs also showed increased perinuclear accumulation and significantly reduced trafficking of CD63
Identifiants
pubmed: 32890627
pii: S0022-202X(20)32041-8
doi: 10.1016/j.jid.2020.08.011
pii:
doi:
Substances chimiques
Adaptor Proteins, Signal Transducing
0
CD63 protein, human
0
EXPH5 protein, human
0
Tetraspanin 30
0
rab27 GTP-Binding Proteins
0
RAB27A protein, human
EC 3.6.1.-.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
523-532.e2Subventions
Organisme : Department of Health
Pays : United Kingdom
Informations de copyright
Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.