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Article

KATNAL2 mutations link ciliary dysfunction to hydrocephalus and autism.

Proceedings of the National Academy of Sciences of the United States of America - 23 Jul 2024

Soni Videep, LoTurco Joseph J

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Identifiers

PMID: 39008680
DOI: 10.1073/pnas.2410761121
PMCID: PMC11287267

Genes

KATNAL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Research trail→

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KATNAL2 mutations link ciliary dysfunction to hydrocephalus and autism.PMID 39008680Read ↗

ASD mutation of Katnal2 impairs ependymal ciliary motion and causes hydrocephalusSemantic proximity Read ↗

Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice.Semantic proximity Read ↗

Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamicsSemantic proximity Read ↗

The ciliopathies: an emerging class of human genetic disorders.Semantic proximity Read ↗

Joubert syndrome and hydrocephalus: Further expanding the phenotypic spectrum of a pleiotropic ciliopathy.Semantic proximity Read ↗

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Genetics and Molecular Pathogenesis of Human HydrocephalusSemantic proximity Read ↗

Emerging insights into primary ciliary dyskinesia-associated hydrocephalus: a scoping review.Semantic proximity Read ↗

Congenital hydrocephalus: a review of recent advances in genetic etiology and molecular mechanisms.Semantic proximity Read ↗

Hydrocephalus caused by <i>Katnip</i> deletion is linked to increased ciliogenesis and reduced proliferation of neuroprogenitor cellsSemantic proximity Read ↗

The genetic background of hydrocephalus in a population-based cohort: implication of ciliary involvementSemantic proximity Read ↗

Convergence of autism proteins at the ciliumSemantic proximity Read ↗

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