Adenovirus-Mediated ABCC6 Gene Therapy for Heritable Ectopic Mineralization Disorders.
Adenoviridae
/ genetics
Administration, Intravenous
Animals
Disease Models, Animal
Female
Genetic Therapy
/ methods
Genetic Vectors
/ administration & dosage
Humans
Liver
/ metabolism
Male
Mice
Mice, Knockout
Multidrug Resistance-Associated Proteins
/ genetics
Mutation
Pseudoxanthoma Elasticum
/ genetics
Recombinant Proteins
/ genetics
Skin
/ metabolism
Time Factors
Time-to-Treatment
Vascular Calcification
/ genetics
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:
06 2019
06 2019
Historique:
received:
26
11
2018
revised:
13
12
2018
accepted:
20
12
2018
pubmed:
15
1
2019
medline:
10
5
2020
entrez:
15
1
2019
Statut:
ppublish
Résumé
Loss-of-function mutations in the ABCC6 gene cause pseudoxanthoma elasticum and type 2 generalized arterial calcification of infancy, heritable ectopic mineralization disorders without effective treatment. ABCC6 encodes the putative efflux transporter ABCC6, which is predominantly expressed in the liver. Although the substrate of ABCC6 remains unknown, recent studies showed that pseudoxanthoma elasticum is a metabolic disorder caused by reduced circulating levels of pyrophosphate, a potent mineralization inhibitor. We hypothesized that reconstitution of ABCC6 might counteract ectopic mineralization in an Abcc6
Identifiants
pubmed: 30639429
pii: S0022-202X(19)30002-8
doi: 10.1016/j.jid.2018.12.017
pmc: PMC6535136
mid: NIHMS1518416
pii:
doi:
Substances chimiques
ABCC6 protein, human
0
Abcc6 protein, mouse
0
Multidrug Resistance-Associated Proteins
0
Recombinant Proteins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1254-1263Subventions
Organisme : NIAMS NIH HHS
ID : K01 AR064766
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR028450
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR055225
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR072695
Pays : United States
Informations de copyright
Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.
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