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CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation.

作者信息

Mróz D, Jagłowska J, Wevers R A, Ziętkiewicz S

机构信息

Intercollegiate Faculty of Biotechnology, University of Gdansk, Gdansk, Poland.

Department of Pediatrics, Hematology and Oncology, Medical University of Gdansk, Gdansk, Poland.

出版信息

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

DOI:10.1002/jimd.70025
PMID:40194906
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11975511/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/568f/11975511/1b8d610c6623/JIMD-48-0-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/568f/11975511/730fbb4347fa/JIMD-48-0-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/568f/11975511/1b8d610c6623/JIMD-48-0-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/568f/11975511/730fbb4347fa/JIMD-48-0-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/568f/11975511/1b8d610c6623/JIMD-48-0-g001.jpg

相似文献

1
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.
2
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.
3
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.
4
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.
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Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.中性粒细胞减少症和智力残疾是双等位基因和新生CLPB缺陷的标志。
Genet Med. 2021 Sep;23(9):1705-1714. doi: 10.1038/s41436-021-01194-x. Epub 2021 Jun 17.
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CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex.CLPB 解聚酶功能障碍影响蛋白酶 SPY 复合物的功能完整性。
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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.
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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.
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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。
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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.

本文引用的文献

1
CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex.CLPB 解聚酶功能障碍影响蛋白酶 SPY 复合物的功能完整性。
J Cell Biol. 2024 Mar 4;223(3). doi: 10.1083/jcb.202305087. Epub 2024 Jan 25.
2
CLPB Deficiency Associated Neonatal Cavitating Leukoencephalopathy: A Potential Pathomechanism Underlying Neurologic Disorder.CLPB 缺乏相关的新生儿空泡性脑白质营养不良：一种潜在的神经功能障碍发病机制。
Pediatr Dev Pathol. 2024 Mar-Apr;27(2):198-204. doi: 10.1177/10935266231204785. Epub 2023 Oct 30.
3
Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
通过高保真长读长基因组测序和RNA测序解决CLPB缺陷病例。
Am J Med Genet A. 2023 Dec;191(12):2908-2912. doi: 10.1002/ajmg.a.63365. Epub 2023 Aug 7.
4
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.
5
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.
6
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.
7
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.
8
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.
9
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.
10
HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation.HAX1 依赖性的线粒体蛋白稳态控制粒细胞分化。
J Clin Invest. 2022 May 2;132(9). doi: 10.1172/JCI153153.