Inverse correlation between fatty acid transport protein 4 and vision in Leber congenital amaurosis associated with RPE65 mutation.
Animals
Cone Opsins
/ metabolism
Disease Models, Animal
Diterpenes
/ isolation & purification
Fatty Acid Transport Proteins
/ deficiency
Humans
Leber Congenital Amaurosis
/ genetics
Mice
Mice, Knockout
Mutation
Retina
/ metabolism
Retinaldehyde
/ biosynthesis
Vision, Ocular
/ physiology
cis-trans-Isomerases
/ genetics
RPE65
cone photoreceptor
opsin solubility
retinal degeneration
visual cycle
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
15 12 2020
15 12 2020
Historique:
pubmed:
2
12
2020
medline:
2
2
2021
entrez:
1
12
2020
Statut:
ppublish
Résumé
Fatty acid transport protein 4 (FATP4), a transmembrane protein in the endoplasmic reticulum (ER), is a recently identified negative regulator of the ER-associated retinal pigment epithelium (RPE)65 isomerase necessary for recycling 11-
Identifiants
pubmed: 33257550
pii: 2012623117
doi: 10.1073/pnas.2012623117
pmc: PMC7749325
doi:
Substances chimiques
Cone Opsins
0
Diterpenes
0
Fatty Acid Transport Proteins
0
Slc27a4 protein, mouse
0
9-cis-retinal
514-85-2
retinoid isomerohydrolase
EC 3.1.1.64
cis-trans-Isomerases
EC 5.2.-
Retinaldehyde
RR725D715M
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
32114-32123Subventions
Organisme : NEI NIH HHS
ID : R21 EY028255
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY028572
Pays : United States
Organisme : NIGMS NIH HHS
ID : P30 GM103340
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY005121
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY021208
Pays : United States
Déclaration de conflit d'intérêts
The authors declare no competing interest.
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