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Article

Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.

PloS one - 1 Jan 2015

Schiessl-Weyer Jasmin, Roa Pedro, Laccone Franco, Kluge Britta, Tichy Alexander, De Almeida Ribeiro Euripedes, Prohaska Rainer, Stoeter Peter, Siegl Claudia, Salzer Ulrich

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). Pantothenate kinases catalyze the rate-limiting step of coenzyme A synthesis and Pank2 is the only pantothenate kinase isoform in humans that is localized to mitochondria. Acanthocytosis, the occurrence of spiculated...

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Identifiers

PMID: 25915509
DOI: 10.1371/journal.pone.0125861
PMCID: PMC4411072

Genes

PANK2

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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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Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.PMID 25915509Read ↗

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