剖析溶酶体酸性脂肪酶缺乏相关疾病中细胞类型特异性影响。 - Suppr

Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders.

作者信息

Westerterp Marit, Li Fang, Zhang Hanrui

机构信息

Department of Pediatrics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Cardiometabolic Genomics Program, Division of Cardiology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.

出版信息

J Lipid Res. 2023 Dec;64(12):100474. doi: 10.1016/j.jlr.2023.100474. Epub 2023 Nov 14.

DOI:10.1016/j.jlr.2023.100474

PMID:37972729

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10750170/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c322/10750170/44811df25cdd/gr1.jpg

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Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders.剖析溶酶体酸性脂肪酶缺乏相关疾病中细胞类型特异性影响。

J Lipid Res. 2023 Dec;64(12):100474. doi: 10.1016/j.jlr.2023.100474. Epub 2023 Nov 14.

Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: non-invasive identification and treatment monitoring by magnetic resonance.溶酶体酸性脂肪酶缺乏症患者肝内胆固醇酯堆积：磁共振的非侵入性鉴定和治疗监测。

J Hepatol. 2013 Sep;59(3):543-9. doi: 10.1016/j.jhep.2013.04.016. Epub 2013 Apr 25.

Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.沃尔曼病潜在的分子缺陷似乎比导致胆固醇酯贮积病的分子缺陷更具异质性。

J Lipid Res. 1999 Feb;40(2):221-8.

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.溶酶体脂肪酶缺乏症：十一例沃曼病或胆固醇酯贮积病患者的分子特征。

Mol Genet Metab. 2012 Mar;105(3):450-6. doi: 10.1016/j.ymgme.2011.12.008. Epub 2011 Dec 17.

A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy.一例经塞贝利酶α治疗反应确诊的溶酶体酸性脂肪酶缺乏症病例。

J Pediatr Gastroenterol Nutr. 2020 Dec;71(6):726-730. doi: 10.1097/MPG.0000000000002870.

Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease.溶酶体酸性脂肪酶：胆固醇酯贮积病和沃尔曼病发病机制中的关键酶。

Z Gastroenterol. 1996 Jun;34 Suppl 3:66-7.

Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease.酸性脂肪酶选择性抑制剂的延长使用在沃曼病和胆固醇酯贮积症的诊断中的应用。

Gene. 2014 Apr 10;539(1):154-6. doi: 10.1016/j.gene.2014.02.003. Epub 2014 Feb 6.

Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.遗传和生化证据表明，CESD和沃尔曼病可通过残余溶酶体酸性脂肪酶活性加以区分。

Genomics. 1996 Apr 1;33(1):85-93. doi: 10.1006/geno.1996.0162.

Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease.溶酶体酸性脂肪酶缺乏症：沃尔曼病和胆固醇酯贮积病。

Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014;35(1):99-106.

Structural bases of Wolman disease and cholesteryl ester storage disease.沃尔曼病和胆固醇酯贮积症的结构基础。

Mol Genet Metab. 2012 Feb;105(2):244-8. doi: 10.1016/j.ymgme.2011.11.004. Epub 2011 Nov 20.

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Reduced Intra- and Extracellular Circulating Postprandial Lysosomal Acid Lipase Activity in Patients with MASLD.非酒精性脂肪性肝病患者餐后细胞内和细胞外循环溶酶体酸性脂肪酶活性降低。

Metabolites. 2024 Dec 23;14(12):725. doi: 10.3390/metabo14120725.

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Metabolic changes and propensity for inflammation, fibrosis, and cancer in livers of mice lacking lysosomal acid lipase.缺乏溶酶体酸性脂肪酶的小鼠肝脏中的代谢变化以及炎症、纤维化和癌症的倾向。

J Lipid Res. 2023 Sep;64(9):100427. doi: 10.1016/j.jlr.2023.100427. Epub 2023 Aug 16.

Recent insights into lysosomal acid lipase deficiency.溶酶体酸性脂肪酶缺乏症的最新研究进展。

Trends Mol Med. 2023 Jun;29(6):425-438. doi: 10.1016/j.molmed.2023.03.001. Epub 2023 Apr 5.

Outcome of haematopoietic cell transplantation in children with lysosomal acid lipase deficiency: a study on behalf of the EBMT Inborn Errors Working Party.溶酶体酸性脂肪酶缺乏症患儿造血细胞移植的结局：一项代表欧洲血液与骨髓移植协会先天性疾病工作组开展的研究

Bone Marrow Transplant. 2023 May;58(5):594-596. doi: 10.1038/s41409-023-01918-4. Epub 2023 Feb 14.

Lysosomal Acid Lipase Activity in Non-alcoholic Fatty Liver Disease as a Novel Diagnostic and Therapeutic Target: A Systematic Literature Review of Current Evidence and Future Directions.非酒精性脂肪性肝病中溶酶体酸性脂肪酶活性作为一种新型诊断和治疗靶点：当前证据及未来方向的系统文献综述

J Clin Exp Hepatol. 2022 Nov-Dec;12(6):1535-1546. doi: 10.1016/j.jceh.2022.04.011. Epub 2022 Apr 15.

Hepatic lysosomal acid lipase overexpression worsens hepatic inflammation in mice fed a Western diet.肝溶酶体酸性脂肪酶过表达加剧西方饮食喂养小鼠的肝炎症。

J Lipid Res. 2021;62:100133. doi: 10.1016/j.jlr.2021.100133. Epub 2021 Oct 5.

Functional Characterization of LIPA (Lysosomal Acid Lipase) Variants Associated With Coronary Artery Disease.功能性分析与冠状动脉疾病相关的 LIPA（溶酶体酸性脂肪酶）变异体。

Arterioscler Thromb Vasc Biol. 2019 Dec;39(12):2480-2491. doi: 10.1161/ATVBAHA.119.313443. Epub 2019 Oct 24.

Hepatocyte-specific lysosomal acid lipase deficiency protects mice from diet-induced obesity but promotes hepatic inflammation.肝实质细胞溶酶体酸性脂肪酶缺乏症可保护小鼠免于饮食诱导的肥胖，但会促进肝脏炎症。

Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Apr;1864(4):500-511. doi: 10.1016/j.bbalip.2019.01.007. Epub 2019 Jan 9.

Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients.溶酶体酸性脂肪酶缺乏症肝移植复发和肝功能衰竭-18 例肝移植患者的临床结局。

Mol Genet Metab. 2018 May;124(1):11-19. doi: 10.1016/j.ymgme.2018.03.010. Epub 2018 Mar 27.

Hepatocyte-Specific Expression of Human Lysosome Acid Lipase Corrects Liver Inflammation and Tumor Metastasis in lal(-/-) Mice.人溶酶体酸性脂肪酶的肝细胞特异性表达可纠正lal(-/-)小鼠的肝脏炎症和肿瘤转移。

Am J Pathol. 2015 Sep;185(9):2379-89. doi: 10.1016/j.ajpath.2015.05.021. Epub 2015 Jul 26.

Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.胆固醇酯贮积症：135 例报道患者的发现回顾——一种被低估的疾病。

J Hepatol. 2013 Jun;58(6):1230-43. doi: 10.1016/j.jhep.2013.02.014. Epub 2013 Feb 26.

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Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders.

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