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Article

A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.

Biomolecules - 18 Feb 2022

Werning Maike, Dobretzberger Verena, Brenner Martin, Müllner Ernst W, Mlynek Georg, Djinovic-Carugo Kristina, Baron David M, Fragner Lena, Bischoff Almut T, Büchner Boriana, Klopstock Thomas, Weckwerth Wolfram, Salzer Ulrich

Abstract excerpt

Pantothenate kinase-associated neurodegeneration (PKAN) is a progressive neurodegenerative disease caused by mutations in the pantothenate kinase 2 (PANK2) gene and associated with iron deposition in basal ganglia. Pantothenate kinase isoforms catalyze the first step in coenzyme A (CoA) biosynthesis. Since PANK2 is the only isoform in erythrocytes, these cells are an excellent ex vivo model to study the effect of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35204826
DOI: 10.3390/biom12020325
PMCID: PMC8869601

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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