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Article

Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration.

PloS one - 1 Jan 2025

Su Grace Li-Na, Jeong Suh Young, Wafai Dahlia, Tschetter Wayne, Zhen Dolly, Hayflick Susan J, Ryals Renee C

Abstract excerpt

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive movement and vision disorder in the neurodegeneration with brain iron accumulation family of diseases. PKAN is caused by mutations in PANK2, encoding pantothenate kinase 2, causing an inborn error of coenzyme A metabolism and leading to iron accumulation in the basal ganglia. Peripheral pigmentary retinopathy is common in people...

Read the complete abstract on PubMed

Topics

Animals
Phosphotransferases (Alcohol Group Acceptor)
Disease Models, Animal
Pantothenate Kinase-Associated Neurodegeneration
Mice

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Mice, Knockout

Retina

Phenotype

Electroretinography

Retinal Degeneration

Dopamine

Source

Open in PubMed Open full text

Identifiers

PMID: 40554626
DOI: 10.1371/journal.pone.0326866
PMCID: PMC12186889

Genes

PANK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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Characterization of the Pank2-/- mouse retinal phenotype as a pre-clinical model for pantothenate kinase-associated neurodegeneration.PMID 40554626Read ↗

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