Proteomic Investigation of Differential Interactomes of Glypican 1 and a Putative Disease-Modifying Variant of Ataxia.
Friedreich’s ataxia
GPC1
GPC1 interactome
MS-based proteomics
disease modifier
neuromuscular disorder
Journal
Journal of proteome research
ISSN: 1535-3907
Titre abrégé: J Proteome Res
Pays: United States
ID NLM: 101128775
Informations de publication
Date de publication:
01 09 2023
01 09 2023
Historique:
pmc-release:
16
08
2024
medline:
4
9
2023
pubmed:
16
8
2023
entrez:
16
8
2023
Statut:
ppublish
Résumé
In a currently 13-year-old girl of consanguineous Turkish parents, who developed unsteady gait and polyneuropathy at the ages of 3 and 6 years, respectively, we performed whole genome sequencing and identified a biallelic missense variant c.424C>T, p.R142W in glypican 1 (
Identifiants
pubmed: 37585105
doi: 10.1021/acs.jproteome.3c00402
pmc: PMC10476613
doi:
Substances chimiques
Glypicans
0
Iron-Binding Proteins
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
3081-3095Références
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