Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study
Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl esters through the endocytic pathway. Deficiency of the LAL enzyme encoded by the <i>LIPA</i> gene leads to LAL deficiency (LAL-D) (OMIM 278000), one of the lysosomal storage disorders involvin...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-12-01
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| Series: | International Journal of Molecular Sciences |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1422-0067/23/24/15549 |