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Article

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.

European journal of human genetics : EJHG - 1 May 2014

Paciorkowski Alex R, Weisenberg Judy, Kelley Joshua B, Spencer Adam, Tuttle Emily, Ghoneim Dalia, Thio Liu Lin, Christian Susan L, Dobyns William B, Paschal Bryce M

Abstract excerpt

Nuclear import receptors of the KPNA family recognize the nuclear localization signal in proteins and together with importin-β mediate translocation into the nucleus. Accordingly, KPNA family members have a highly conserved architecture with domains that contact the nuclear localization signal an...

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Source

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Identifiers

PMID: 24045845
DOI: 10.1038/ejhg.2013.196
PMCID: PMC3992559

Genes

KPNA7
KPNA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24045845-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.PMID 24045845Read ↗

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