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Article

Altered apoptosis regulation in Kufor-Rakeb syndrome patients with mutations in the ATP13A2 gene.

Journal of cellular and molecular medicine - 1 Aug 2012

Radi Elena, Formichi Patrizia, Di Maio Giuseppe, Battisti Carla, Federico Antonio

Abstract excerpt

ATP13A2 gene encodes for a protein of the group 5 P-type ATPase family. ATP13A2 mutations are responsible for Kufor-Rakeb syndrome (KRS), a rare autosomal recessive juvenile parkinsonism characterized by the subacute onset of extrapyramidal, pyramidal and cognitive dysfunction with secondary nonresponsiveness to levodopa. FBXO7 protein is an F-box-containing protein. Recessive FBXO7 mutations are responsible for...

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Source

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Identifiers

PMID: 22117566
DOI: 10.1111/j.1582-4934.2011.01488.x
PMCID: PMC3822702

Genes

FBXO7

Provenance

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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