Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease.

PloS one - 1 Jan 2017

Arber Charles, Angelova Plamena R, Wiethoff Sarah, Tsuchiya Yugo, Mazzacuva Francesca, Preza Elisavet, Bhatia Kailash P, Mills Kevin, Gout Ivan, Abramov Andrey Y, Hardy John, Duce James A, Houlden Henry, Wray Selina

Abstract excerpt

Mutations in PANK2 lead to neurodegeneration with brain iron accumulation. PANK2 has a role in the biosynthesis of coenzyme A (CoA) from dietary vitamin B5, but the neuropathological mechanism and reasons for iron accumulation remain unknown. In this study, atypical patient-derived fibroblasts were reprogrammed into induced pluripotent stem cells (iPSCs) and subsequently differentiated into cortical neuronal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acetyl Coenzyme A
Share to Coenzyme A

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

Share to Lipid Peroxidation

Share to Membrane Potential, Mitochondrial

Share to Mitochondrial Diseases

Share to Pantothenate Kinase-Associated Neurodegeneration

Share to Phosphotransferases (Alcohol Group Acceptor)

Source

Open in PubMed Open full text

Identifiers

PMID: 28863176
DOI: 10.1371/journal.pone.0184104
PMCID: PMC5581181

Genes

PANK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

iPSC-derived neuronal models of PANK2-associated neurodegeneration reveal mitochondrial dysfunction contributing to early disease.PMID 28863176Read ↗

Down Regulation Of The Expression Of Mitochondrial Phosphopantetheinyl-Proteins In Pantothenate Kinase-Associated Neurodegeneration: Pathophysiological Consequences and Therapeutic PerspectivesSemantic proximity Read ↗

Neurodegeneration with brain iron accumulation: from genes to pathogenesis.Semantic proximity Read ↗

Pantothenate Rescues Iron Accumulation in Pantothenate Kinase-Associated Neurodegeneration Depending on the Type of Mutation.Semantic proximity Read ↗

Metabolic alterations in fibroblasts of patients presenting with the MPAN subtype of neurodegeneration with brain iron accumulation (NBIA).Semantic proximity Read ↗

Alpha-Lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levelsSemantic proximity Read ↗

Generation of a human induced pluripotent stem cell (iPSC) line (IBMS-iPSC-070-02) from a patient with neurodegeneration with brain iron accumulation (NBIA) having compound heterozygous mutations in PANK2 gene.Semantic proximity Read ↗

On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.Semantic proximity Read ↗

Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration.Semantic proximity Read ↗

Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases.Semantic proximity Read ↗

4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN.Semantic proximity Read ↗

NBIA Syndromes: A Step Forward from the Previous Knowledge.Semantic proximity Read ↗

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.