ArticleJournal of inherited metabolic disease2020
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.
Article in Journal of inherited metabolic disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- Endosomal Mechanisms in Heart Failure Pathophysiology.Current heart failure reports · 2025Review
- Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report.Clinical case reports · 2025Article
- [Inherited metabolic liver disease causing copper deposition].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025Review
- Predicting disease-overarching therapeutic approaches for Congenital Disorders of Glycosylation using multi-OMICS.bioRxiv : the preprint server for biology · 2025Article
- Insights Into the Pathological Glycosylation Associated With COG6-CDG.Human mutation · 2025Article
- Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Frontiers in immunology · 2024Review
- Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.BMC research notes · 2023Article
- Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.Journal of inherited metabolic disease · 2023Article
- Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.Journal of inherited metabolic disease · 2023Article
- Expanding the phenotype ofCold Spring Harbor molecular case studies · 2022Article
- Congenital disorder of glycosylation caused by mutation ofWorld journal of clinical cases · 2021Article
- Knock-Out of ACBD3 Leads to Dispersed Golgi Structure, but Unaffected Mitochondrial Functions in HEK293 and HeLa Cells.International journal of molecular sciences · 2021Article
- 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.Journal of inherited metabolic disease · 2020Article
- Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICS.Molecular genetics and metabolismArticle
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.