Impaired activity and membrane association of most calpain-5 mutants causal for neovascular inflammatory vitreoretinopathy.
Autoproteolysis
CAPN5
Calpain-5
Membrane
NIV
Palmitoylation
S-acylation
Journal
Biochimica et biophysica acta. Molecular basis of disease
ISSN: 1879-260X
Titre abrégé: Biochim Biophys Acta Mol Basis Dis
Pays: Netherlands
ID NLM: 101731730
Informations de publication
Date de publication:
08 2023
08 2023
Historique:
received:
22
07
2022
revised:
29
03
2023
accepted:
02
05
2023
pmc-release:
01
08
2024
medline:
5
6
2023
pubmed:
20
5
2023
entrez:
19
5
2023
Statut:
ppublish
Résumé
Neovascular inflammatory vitreoretinopathy (NIV) is a rare eye disease that ultimately leads to complete blindness and is caused by mutations in the gene encoding calpain-5 (CAPN5), with six pathogenic mutations identified. In transfected SH-SY5Y cells, five of the mutations resulted in decreased membrane association, diminished S-acylation, and reduced calcium-induced autoproteolysis of CAPN5. CAPN5 proteolysis of the autoimmune regulator AIRE was impacted by several NIV mutations. R243, L244, K250 and the adjacent V249 are on β-strands in the protease core 2 domain. Conformational changes induced by Ca
Identifiants
pubmed: 37207905
pii: S0925-4439(23)00113-8
doi: 10.1016/j.bbadis.2023.166747
pmc: PMC10332796
mid: NIHMS1905445
pii:
doi:
Substances chimiques
Calpain
EC 3.4.22.-
Capn5 protein, human
EC 3.4.22.-
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
166747Subventions
Organisme : NINDS NIH HHS
ID : R01 NS095229
Pays : United States
Informations de copyright
Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: James W. Geddes reports financial support was provided by National Institutes of Health.
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