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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 LIPA gene leads to LAL deficiency (LAL-D) (OMIM 278000), one of the lysosomal storage disorders involving 50–60 genes. Amon...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9779616/ https://www.ncbi.nlm.nih.gov/pubmed/36555187 http://dx.doi.org/10.3390/ijms232415549 |