一名患有3-甲基戊二酸尿症的患者出现新型CLPB突变，导致严重的神经受累和先天性中性粒细胞减少症。 - Suppr

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超能文献

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.

作者信息

Kiykim Ayca, Garncarz Wojciech, Karakoc-Aydiner Elif, Ozen Ahmet, Kiykim Ertugrul, Yesil Gozde, Boztug Kaan, Baris Safa

机构信息

Marmara University, Division of Pediatric Allergy/Immunology, Istanbul, Turkey.

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

出版信息

Clin Immunol. 2016 Apr;165:1-3. doi: 10.1016/j.clim.2016.02.008. Epub 2016 Feb 23.

DOI:10.1016/j.clim.2016.02.008

PMID:26916670

Abstract

摘要

相似文献

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.一名患有3-甲基戊二酸尿症的患者出现新型CLPB突变，导致严重的神经受累和先天性中性粒细胞减少症。

Clin Immunol. 2016 Apr;165:1-3. doi: 10.1016/j.clim.2016.02.008. Epub 2016 Feb 23.

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.CLPB的破坏与先天性小头畸形、严重脑病和3-甲基戊二酸尿症有关。

J Med Genet. 2015 May;52(5):303-11. doi: 10.1136/jmedgenet-2014-102952. Epub 2015 Feb 3.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.CLPB基因突变会导致3-甲基戊二酸尿症、进行性脑萎缩、智力障碍、先天性中性粒细胞减少症、白内障和运动障碍。

Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15.

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.与常染色体隐性遗传性线粒体疾病相关的CLPB变异体，该疾病伴有白内障、中性粒细胞减少、癫痫和甲基戊二酸尿症。

Am J Hum Genet. 2015 Feb 5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 Jan 15.

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.双等位基因CLPB突变导致白内障、肾囊肿、肾钙质沉着症和3-甲基戊二酸尿症，这是一种线粒体蛋白解聚的新型疾病。

J Inherit Metab Dis. 2015 Mar;38(2):211-9. doi: 10.1007/s10545-015-9813-0. Epub 2015 Jan 18.

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.基于 31 例胎儿和新生儿表现的 CLPB 缺陷临床病程预测评分系统。

J Inherit Metab Dis. 2017 Nov;40(6):853-860. doi: 10.1007/s10545-017-0057-z. Epub 2017 Jul 7.

[CLPB gene mutations analysis in a case of type 3-methylglutaconic aciduria].[1例3-甲基戊二酸尿症患者的CLPB基因突变分析]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Sep 10;37(9):1014-1017. doi: 10.3760/cma.j.cn511374-20190912-00470.

Heterozygous variants of CLPB are a cause of severe congenital neutropenia.CLPB 的杂合变体是严重先天性中性粒细胞减少症的一个原因。

Blood. 2022 Feb 3;139(5):779-791. doi: 10.1182/blood.2021010762.

[Clinical and genetic analysis of an infant with 3-methylglutaconic aciduria type VII].[一名VII型3-甲基戊二酸尿症婴儿的临床与遗传学分析]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Apr 10;37(4):423-426. doi: 10.3760/cma.j.issn.1003-9406.2020.04.014.

Skd3 (human ClpB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations.Skd3（人源 ClpB）是一种有效的线粒体蛋白解聚酶，其活性会被与 3-甲基戊烯二酸血症相关的突变所抑制。

Elife. 2020 Jun 23;9:e55279. doi: 10.7554/eLife.55279.

引用本文的文献

CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation.CLPB缺陷症，一种伴有中性粒细胞减少和神经学表现的线粒体伴侣蛋白病。

J Inherit Metab Dis. 2025 May;48(3):e70025. doi: 10.1002/jimd.70025.

Dodecamer assembly of a metazoan AAA chaperone couples substrate extraction to refolding.多聚体组装的后生动物 AAA 伴侣蛋白将底物提取与重折叠偶联。

Sci Adv. 2023 May 10;9(19):eadf5336. doi: 10.1126/sciadv.adf5336.

Structural basis of impaired disaggregase function in the oxidation-sensitive SKD3 mutant causing 3-methylglutaconic aciduria.导致 3-甲基戊烯二酸尿症的氧化敏感 SKD3 突变体中解聚酶功能障碍的结构基础。

Nat Commun. 2023 Apr 11;14(1):2028. doi: 10.1038/s41467-023-37657-9.

Comprehensive structural characterization of the human AAA+ disaggregase CLPB in the apo- and substrate-bound states reveals a unique mode of action driven by oligomerization.全面的结构表征揭示了人 AAA+解聚酶 CLPB 在apo 和底物结合状态下的独特作用模式，该模式由寡聚化驱动。

PLoS Biol. 2023 Feb 6;21(2):e3001987. doi: 10.1371/journal.pbio.3001987. eCollection 2023 Feb.

Unique structural features govern the activity of a human mitochondrial AAA+ disaggregase, Skd3.独特的结构特征控制着人类线粒体 AAA+解聚酶 Skd3 的活性。

Cell Rep. 2022 Sep 27;40(13):111408. doi: 10.1016/j.celrep.2022.111408.

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.CLPB 缺乏导致的卵巢早衰：转录组学、蛋白质组学和表型见解。

J Clin Endocrinol Metab. 2022 Nov 25;107(12):3328-3340. doi: 10.1210/clinem/dgac528.

The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes.细菌 ClpXP-ClpB 家族富含 RNA 结合蛋白复合物。

Cells. 2022 Aug 2;11(15):2370. doi: 10.3390/cells11152370.

Biallelic CLPB mutation associated with isolated neutropenia and 3-MGA-uria.双等位基因CLPB突变与孤立性中性粒细胞减少症和3-甲基戊二酸尿症相关。

Pediatr Allergy Immunol. 2022 May;33(5):e13782. doi: 10.1111/pai.13782.

Mitochondrial Protein Homeostasis and Cardiomyopathy.线粒体蛋白动态平衡与心肌病。

Int J Mol Sci. 2022 Mar 20;23(6):3353. doi: 10.3390/ijms23063353.

Heterozygous variants of CLPB are a cause of severe congenital neutropenia.CLPB 的杂合变体是严重先天性中性粒细胞减少症的一个原因。

Blood. 2022 Feb 3;139(5):779-791. doi: 10.1182/blood.2021010762.

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