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Article

Extra-Neurological Characterization of Seckel Syndrome-Model Mice Harboring CEP152 Variants.

Cells - 24 Jun 2026

Hamada Nanako, Ichihashi Koki, Matsuki Tohru, Iwamoto Ikuko, Nakayama Atsuo, Hara Akira, Nagata Koh-Ichi

Abstract excerpt

Centrosomal protein 152 (CEP152) is a key regulator of centriole architecture and function, essential for proper cell division and polarity. Pathogenic variants in CEP152 cause Seckel syndrome (SCKL), a systemic disorder characterized by microcephalic primordial dwarfism. However, the mechanisms underlying its multi-organ manifestations remain poorly understood. To investigate this, we utilized two mouse models...

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Identifiers

PMID: 42439625
DOI: 10.3390/cells15131148
PMCID: PMC13359663

Genes

CEP152

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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