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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Hlavní autoři: di San Filippo, Cristina Amat, Ardon, Orly, Longo, Nicola
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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On-line přístup: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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