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GLYCOSYLATION OF THE OCTN2 CARNITINE TRANSPORTER: STUDY OF NATURAL MUTATIONS IDENTIFIED IN PATIENTS WITH PRIMARY CARNITINE DEFICIENCY
Primary carnitine deficiency is caused by impaired activity of the Na(+)-dependent OCTN2 carnitine/organic cation transporter. Carnitine is essential for entry of long-chain fatty acids into mitochondria and its deficiency impairs fatty acid oxidation. Most missense mutations identified in patients...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3026072/ https://ncbi.nlm.nih.gov/pubmed/21126579 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbadis.2010.11.007 |
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