Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.
CTRP5
ECM remodeling
HTRA1
L-ORD
age-related macular degeneration
drusen
sub-RPE deposits
Journal
Aging cell
ISSN: 1474-9726
Titre abrégé: Aging Cell
Pays: England
ID NLM: 101130839
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
05
03
2019
revised:
13
05
2019
accepted:
16
06
2019
pubmed:
7
8
2019
medline:
15
9
2020
entrez:
7
8
2019
Statut:
ppublish
Résumé
Late-onset retinal degeneration (L-ORD) is an autosomal dominant macular degeneration characterized by the formation of sub-retinal pigment epithelium (RPE) deposits and neuroretinal atrophy. L-ORD results from mutations in the C1q-tumor necrosis factor-5 protein (CTRP5), encoded by the CTRP5/C1QTNF5 gene. To understand the mechanism underlying L-ORD pathology, we used a human cDNA library yeast two-hybrid screen to identify interacting partners of CTRP5. Additionally, we analyzed the Bruch's membrane/choroid (BM-Ch) from wild-type (Wt), heterozygous S163R Ctrp5 mutation knock-in (Ctrp5
Identifiants
pubmed: 31385385
doi: 10.1111/acel.13011
pmc: PMC6826137
doi:
Substances chimiques
C1QTNF5 protein, human
0
Collagen
9007-34-5
High-Temperature Requirement A Serine Peptidase 1
EC 3.4.21.-
HTRA1 protein, human
EC 3.4.21.-
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
e13011Subventions
Organisme : Edward N. & Della L. Thome memorial foundation
Pays : International
Organisme : The Foundation Fighting Blindness
Pays : International
Organisme : NIDDK NIH HHS
ID : R01 DK041737
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY025693
Pays : United States
Organisme : Medical Research Council
ID : MC_UU_00007/10
Pays : United Kingdom
Organisme : Research to Prevent Blindness
Pays : International
Organisme : NIH HHS
ID : NIH-EY21237
Pays : United States
Organisme : NIH HHS
ID : P30-EY22589
Pays : United States
Informations de copyright
© 2019 The Authors. Aging Cell published by the Anatomical Society and John Wiley & Sons Ltd.
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