Varaico: Literature-Extracted Genetic Variants

Gene:PANK2
Variant:p.R190insFs
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PANK2

NM_001386393.1:p.R190insFs

Associated Papers

Mitochondrial iron deficiency triggers cytosolic iron overload in PKAN hiPS-derived astrocytes.

Santambrogio P et al.

Cell Death & Disease, 2024

Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype.

Santambrogio P et al.

Cell Death & Disease, 2022

PKAN hiPS-Derived Astrocytes Show Impairment of Endosomal Trafficking: A Potential Mechanism Underlying Iron Accumulation.

Ripamonti M et al.

Frontiers in Cellular Neuroscience, 2022

iPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases.

Hollingsworth EW et al.

Embo Molecular Medicine, 2017

29051230 (PubMed )
Supplement: EMMM-9-1742-s001.pdf

Coenzyme A corrects pathological defects in human neurons of PANK2-associated neurodegeneration.

Orellana DI et al.

Embo Molecular Medicine, 2016

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

Santambrogio P et al.

Neurobiology of Disease, 2015

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.

Leoni V et al.

Molecular Genetics and Metabolism, 2012

Biochemical properties of human pantothenate kinase 2 isoforms and mutations linked to pantothenate kinase-associated neurodegeneration.

Zhang YM et al.

The Journal of Biological Chemistry, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."