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Article

Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.

Molecular genetics and metabolism - 1 Jun 2017

Aoun Manar, Corsetto Paola Antonia, Nugue Guillaume, Montorfano Gigliola, Ciusani Emilio, Crouzier David, Hogarth Penelope, Gregory Allison, Hayflick Susan, Zorzi Giovanna, Rizzo Angela Maria, Tiranti Valeria

Abstract excerpt

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2). The PANK2 catalyzes the first step of coenzyme A (CoA) biosynthesis, a pathway producing an essential cofactor that plays a key role in energy and lipid metabolism. The majority of PANK2 mutations reduces or abolishes the...

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Identifiers

PMID: 28456385
DOI: 10.1016/j.ymgme.2017.04.006

Genes

PANK2

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Changes in Red Blood Cell membrane lipid composition: A new perspective into the pathogenesis of PKAN.PMID 28456385Read ↗

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