Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
Congenital Disorders of Glycosylation
/ diagnosis
Copper
/ metabolism
Fatal Outcome
Humans
Immunologic Deficiency Syndromes
/ diagnosis
Infant
Liver Diseases
/ diagnosis
Male
Metabolomics
Mutation
Oxidative Stress
/ genetics
Phenotype
Protein Processing, Post-Translational
Siblings
Vacuolar Proton-Translocating ATPases
/ deficiency
ATP6AP1
congenital disorders of glycosylation
copper metabolism
glycosylation
metabolic disorder
oxidative stress
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
07
01
2020
revised:
10
03
2020
accepted:
23
03
2020
pubmed:
28
3
2020
medline:
24
8
2021
entrez:
28
3
2020
Statut:
ppublish
Résumé
Congenital disorders of glycosylation (CDG) represent a wide range of >140 inherited metabolic diseases, continually expanding not only with regards to the number of newly identified causative genes, but also the heterogeneity of the clinical and molecular presentations within each subtype. The deficiency of ATP6AP1, an accessory subunit of the vacuolar H
Identifiants
pubmed: 32216104
doi: 10.1002/jimd.12237
pmc: PMC7383996
doi:
Substances chimiques
ATP6AP1 protein, human
0
Copper
789U1901C5
Vacuolar Proton-Translocating ATPases
EC 3.6.1.-
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
694-700Informations de copyright
© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
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