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The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann–Pick disease type C
Lysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysoso...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Portland Press Ltd.
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10657176/ https://www.ncbi.nlm.nih.gov/pubmed/37844193 http://dx.doi.org/10.1042/BST20220711 |