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Article

PIGK defects induce apoptosis in Purkinje cells and acceleration of neuroectodermal differentiation.

Cell death & disease - 9 Nov 2024

Chen Siyi, You Jiali, Zhou Xiaowei, Li Yan, Liu Fang, Teng Yanling, Teng Hua, Li Yunlong, Liang Desheng, Li Zhuo, Wu Lingqian

Abstract excerpt

Biallelic mutations in PIGK cause GPI biosynthesis defect 22 (GPIBD22), characterized with developmental delay, hypotonia, and cerebellar atrophy. The understanding of the underlying causes is limited due to the lack of suitable disease models. To address this gap, we generated a mouse model with PIGK deficits, specifically in Purkinje cells (Pcp2-cko) and an induced pluripotent stem cell (iPSC) model using the...

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Source

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Identifiers

PMID: 39521780
DOI: 10.1038/s41419-024-07201-8
PMCID: PMC11550446

Genes

PIGK
GPI

Variants

Provenance

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

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