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Gaucher disease: Basic and translational science needs for more complete therapy and management.戈谢病：实现更全面治疗与管理所需的基础与转化科学
Mol Genet Metab. 2021 Feb;132(2):59-75. doi: 10.1016/j.ymgme.2020.12.291. Epub 2020 Dec 29.
2
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond.溶酶体贮积症与帕金森病：戈谢病及其他。
Mov Disord. 2011 Aug 1;26(9):1593-604. doi: 10.1002/mds.23774. Epub 2011 May 26.
3
Gaucher disease in Tunisia: High frequency of the most common mutations.突尼斯的戈谢病：最常见突变的高频率
Blood Cells Mol Dis. 2009 Sep-Oct;43(2):161-2. doi: 10.1016/j.bcmd.2009.05.004. Epub 2009 Jun 23.
4
Mutations causing Gaucher disease.导致戈谢病的突变。
Hum Mutat. 1994;3(1):1-11. doi: 10.1002/humu.1380030102.
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Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?戈谢病的围产期致死型是否比经典2型戈谢病更常见？
Eur J Hum Genet. 1999 May-Jun;7(4):505-9. doi: 10.1038/sj.ejhg.5200315.
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The clinical management of Type 2 Gaucher disease.2型戈谢病的临床管理
Mol Genet Metab. 2015 Feb;114(2):110-122. doi: 10.1016/j.ymgme.2014.11.008. Epub 2014 Nov 14.
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Gaucher disease, a paradigm for single gene defects.戈谢病，单基因缺陷的一个范例。
Experientia. 1995 Mar 15;51(3):196-7. doi: 10.1007/BF01931089.
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[Molecular diagnosis and gene therapy for Gaucher disease].戈谢病的分子诊断与基因治疗
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Gaucher disease in South Africa.南非的戈谢病。
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Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.1型戈谢病：葡萄牙人群中N396T的鉴定及葡萄糖脑苷脂酶突变的患病率
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Development of a Lentiviral Vector for High-Yield Production of Synthetic and Recombinant GCase for Gaucher Disease Therapy.用于高产量生产用于戈谢病治疗的合成和重组葡糖脑苷脂酶的慢病毒载体的开发。
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AAV-mediated GBA1 and GDNF rescue neurological defects in a murine model of neuronopathic Gaucher disease.腺相关病毒介导的葡糖脑苷脂酶1和胶质细胞源性神经营养因子可挽救神经元型戈谢病小鼠模型中的神经缺陷。
Mol Ther Nucleic Acids. 2025 Mar 7;36(2):102506. doi: 10.1016/j.omtn.2025.102506. eCollection 2025 Jun 10.
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Modeling bone marrow microenvironment and hematopoietic dysregulation in Gaucher disease through VavCre mediated Gba deletion.通过VavCre介导的Gba缺失对戈谢病的骨髓微环境和造血失调进行建模。
Hum Mol Genet. 2025 May 17;34(11):952-966. doi: 10.1093/hmg/ddaf045.
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Clinical Outcomes and Genetic Mutations in Turkish Patients with Type 1 Gaucher Disease: Insights from a Single-Center Study.土耳其1型戈谢病患者的临床结局与基因突变：一项单中心研究的见解
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Look Beyond Plasma Membrane Biophysics: Revealing Considerable Variability of the Dipole Potential Between Plasma and Organelle Membranes of Living Cells.超越质膜生物物理学：揭示活细胞的质膜与细胞器膜之间偶极电位的显著变异性。
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bioRxiv. 2024 Dec 12:2024.12.10.627687. doi: 10.1101/2024.12.10.627687.
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Organelle communication maintains mitochondrial and endosomal homeostasis during podocyte lipotoxicity.细胞器通讯在足细胞脂肪毒性过程中维持线粒体和内体的平衡。
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Novel insights into the modulation of the voltage-gated potassium channel K1.3 activation gating by membrane ceramides.新型见解：膜神经酰胺对电压门控钾通道 K1.3 激活门控的调节作用。
J Lipid Res. 2024 Aug;65(8):100596. doi: 10.1016/j.jlr.2024.100596. Epub 2024 Jul 15.

本文引用的文献

1
Mechanisms of bone development and repair.骨发育和修复的机制。
Nat Rev Mol Cell Biol. 2020 Nov;21(11):696-711. doi: 10.1038/s41580-020-00279-w. Epub 2020 Sep 8.
2
Impact on bone microarchitecture and failure load in a patient with type I Gaucher disease who switched from Imiglucerase to Eliglustat.一名从伊米苷酶转换为依利格鲁司他的I型戈谢病患者的骨微结构和破坏载荷受到的影响。
Mol Genet Metab Rep. 2020 May 30;24:100606. doi: 10.1016/j.ymgmr.2020.100606. eCollection 2020 Sep.
3
Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients.认知衰退和抑郁症状：埃及戈谢氏病患者帕金森病的早期非运动表现。
Neurogenetics. 2020 Jul;21(3):159-167. doi: 10.1007/s10048-020-00607-4. Epub 2020 Mar 26.
4
Glucocerebrosidase: Functions in and Beyond the Lysosome.葡萄糖脑苷脂酶：在溶酶体及其他方面的功能
J Clin Med. 2020 Mar 9;9(3):736. doi: 10.3390/jcm9030736.
5
Destroy to Rebuild: The Connection Between Bone Tissue Remodeling and Matrix Metalloproteinases.破而后立：骨组织重塑与基质金属蛋白酶之间的联系
Front Physiol. 2020 Feb 5;11:47. doi: 10.3389/fphys.2020.00047. eCollection 2020.
6
Liver involvement in patients with Gaucher disease types I and III.Ⅰ型和Ⅲ型戈谢病患者的肝脏受累情况
Mol Genet Metab Rep. 2020 Jan 7;22:100564. doi: 10.1016/j.ymgmr.2019.100564. eCollection 2020 Mar.
7
Molecular Signatures of Neuroinflammation Induced by αSynuclein Aggregates in Microglial Cells.α-突触核蛋白聚集物诱导小胶质细胞神经炎症的分子特征。
Front Immunol. 2020 Jan 31;11:33. doi: 10.3389/fimmu.2020.00033. eCollection 2020.
8
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy.葡萄糖脑苷脂神经酰胺酶，但不是 Saposin C，是戈谢病相关γ球蛋白血症的靶抗原。
Mol Genet Metab. 2020 Apr;129(4):286-291. doi: 10.1016/j.ymgme.2020.01.009. Epub 2020 Feb 5.
9
Chronic Systemic Inflammation Exacerbates Neurotoxicity in a Parkinson's Disease Model.慢性系统性炎症加重帕金森病模型中的神经毒性。
Oxid Med Cell Longev. 2020 Jan 13;2020:4807179. doi: 10.1155/2020/4807179. eCollection 2020.
10
Bone Regeneration, Reconstruction and Use of Osteogenic Cells; from Basic Knowledge, Animal Models to Clinical Trials.骨再生、重建及成骨细胞的应用；从基础知识、动物模型到临床试验。
J Clin Med. 2020 Jan 4;9(1):139. doi: 10.3390/jcm9010139.

Gaucher disease: Basic and translational science needs for more complete therapy and management.

作者信息

Grabowski Gregory A, Antommaria Armand H M, Kolodny Edwin H, Mistry Pramod K

机构信息

Department of Pediatrics, University of Cincinnati College of Medicine, United States of America; Department of Molecular Genetics, Biochemistry and Microbiology, University of Cincinnati College of Medicine, United States of America; Division of Human Genetics, Cincinnati Children's Research Foundation, Cincinnati, OH, United States of America.

Department of Pediatrics, University of Cincinnati College of Medicine, United States of America; Lee Ault Carter Chair of Pediatric Ethics, Cincinnati Children's Research Foundation, Cincinnati, OH, United States of America.

出版信息

Mol Genet Metab. 2021 Feb;132(2):59-75. doi: 10.1016/j.ymgme.2020.12.291. Epub 2020 Dec 29.

DOI:10.1016/j.ymgme.2020.12.291
PMID:33419694
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8809485/
Abstract
摘要