Associated Papers
Novel Single-Nucleotide Polymorphisms (SNPs) and Genetic Studies of the Shadow of Prion Protein (SPRN) in Quails.
Choi DI et al.
Animals : an Open Access Journal From Mdpi, 2024
The First Genetic Characterization of the SPRN Gene in Pekin Ducks (Anas platyrhynchos domesticus).
Nguyen TT et al.
Animals : an Open Access Journal From Mdpi, 2024
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Alharbi H et al.
Journal of Inherited Metabolic Disease, 2023
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Dang Do AN et al.
Journal of Inherited Metabolic Disease, 2023
Expanding the phenotype of ATP6AP1 deficiency.
Barua S et al.
Cold Spring Harbor Molecular Case Studies, 2022
Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report.
Yang X et al.
World Journal of Clinical Cases, 2021
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.
Ondruskova N et al.
Journal of Inherited Metabolic Disease, 2020
Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function.
Concepcion AR et al.
The Journal of Clinical Investigation, 2016
Suppressors of ipl1-2 in components of a Glc7 phosphatase complex, Cdc48 AAA ATPase, TORC1, and the kinetochore.
Robinson LC et al.
G3 (bethesda, Md.), 2012
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