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
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12237
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… read more here.
Keywords: tissue specific; atp6ap1; copper accumulation; mutation ... See more keywords
Expanding the phenotype of ATP6AP1 deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006195
Abstract: Vacuolar ATPases (V-ATPases) are large multisubunit proton pumps conserved among all eukaryotic cells that are involved in diverse functions including acidification of membrane-bound intracellular compartments. The ATP6AP1 gene encodes an accessory subunit of the vacuolar… read more here.
Keywords: atp6ap1; expanding phenotype; atp6ap1 cdg; atp6ap1 deficiency ... See more keywords
Lysosomal gene ATP6AP1 promotes doxorubicin resistance via up-regulating autophagic flux in breast cancer
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DOI: 10.1186/s12935-024-03579-9
Abstract: Breast cancer remains the most prevalent malignancy in women. Chemotherapy is the primary systemic treatment modality, and the effectiveness of treatment is often hampered by chemoresistance. Autophagy has been implicated in promoting chemoresistance, as elevated… read more here.
Keywords: cancer; breast cancer; autophagic flux; atp6ap1 ... See more keywords
ATP6AP1 is a potential prognostic biomarker and is associated with iron metabolism in breast cancer
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.958290
Abstract: Cancer occurrence and progression may be facilitated by aberrant expression of ATPase H+ transporting accessory protein 1 (ATP6AP1). However, the clinical relevance of ATP6AP1 in breast cancer remains unclear. In this study, we investigated the… read more here.
Keywords: atp6ap1; metabolism; expression; breast cancer ... See more keywords