Publication: Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development
Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development
Date
Date
Date
Citations
Zanoni, P., & von Eckardstein, A. (2020). Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development. Current Opinion in Lipidology, 31(2), 62–70. https://doi.org/10.1097/MOL.0000000000000667
Abstract
Abstract
Abstract
PURPOSE OF REVIEW
We review current knowledge regarding naturally occurring mutations in the human apolipoprotein A-I (APOA1) gene with a focus on their clinical complications as well as their exploitation for the elucidation of structure-function-(disease) relationships and therapy.
RECENT FINDINGS
Bi-allelic loss-of-function mutations in APOA1 cause HDL deficiency and, in the majority of patients, premature atherosclerotic cardiovascular disease (ASCVD) and corneal opacities. Heterozygous HDL-cholesterol decreasing mutations in A
Metrics
Views
Additional indexing
Creators (Authors)
- Zanoni, Paolo
- von Eckardstein, Arnold
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Publisher DOI
Metrics
Views
Citations
Zanoni, P., & von Eckardstein, A. (2020). Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development. Current Opinion in Lipidology, 31(2), 62–70. https://doi.org/10.1097/MOL.0000000000000667
