Evidence map›Paper›PMID 39521780›Full record

ArticleCell death & disease2024

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

Siyi Chen, Jiali You, Xiaowei Zhou, Yan Li, Fang Liu, Yanling Teng, Hua Teng, Yunlong Li, Desheng Liang, Zhuo Li and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell death & disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Siyi ChenCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE KeyLab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, China.ORCID 0000-0003-3918-5842
Jiali YouCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE KeyLab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, China.
Xiaowei ZhouCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE KeyLab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, China.
Yan LiCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE KeyLab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, China.
Fang LiuCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE KeyLab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, China.
Yanling TengCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE KeyLab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, China.
Hua TengCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE KeyLab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, China.
Yunlong LiCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE KeyLab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, China.
Desheng LiangCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE KeyLab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, China. liangdesheng@sklmg.edu.cn.
Zhuo LiCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE KeyLab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, China. lizhuo@sklmg.edu.cn.ORCID 0000-0001-6010-6139
Lingqian WuCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE KeyLab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, China. wulingqian@sklmg.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 c.87dupT mutant (KI) found in GPIBD22 patients. Pcp2-cko mice demonstrated cerebellar atrophy, ataxia and progressive Purkinje cells loss which were accompanied by increased apoptosis and neuroinflammation. Similarly, KI iPSCs exhibited increased apoptosis and accelerated neural rosette formation, indicating that PIGK defects could impact early neural differentiation that confirmed by the RNA-Seq results of neural progenitor cells (NPCs). The increased apoptosis and accelerated NPC differentiation in KI iPSCs are associated with excessive unfolded protein response (UPR) pathway activation, and can be rescued by UPR pathway inhibitor. Our study reveals potential pathogenic mechanism of GPIBD22 and providing new insights into the therapeutic strategy for GPIBD.

Indexed as

ApoptosisCell DifferentiationInduced Pluripotent Stem CellsPurkinje CellsAnimalsHumansMiceMice, Inbred C57BLMice, KnockoutMutationNeural Stem CellsUnfolded Protein Response

Identifiers

PMID39521780
PMCPMC11550446

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.