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尼曼-匹克病C型的互补研究表明存在第二类。

Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.

作者信息

Steinberg S J, Ward C P, Fensom A H

机构信息

Paediatric Research Unit, United Medical School of Guy's Hospital, London, UK.

出版信息

J Med Genet. 1994 Apr;31(4):317-20. doi: 10.1136/jmg.31.4.317.

DOI:10.1136/jmg.31.4.317
PMID:8071958
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049805/
Abstract

Niemann-Pick disease type C is a clinically heterogeneous storage disorder with an unknown primary metabolic defect. We have undertaken somatic cell hybridisation experiments using skin fibroblast strains from 12 patients representing a wide clinical spectrum. Preliminary experiments using filipin staining of free cholesterol as a marker for complementation indicated the existence of one major group (group alpha) and one minor group (group beta) represented by one mutant strain. Subsequent experiments in which sphingomyelinase activity was measured as a marker for complementation using five mutant strains showing activity consistently < 40% control levels confirmed the existence of the second group.

摘要

C型尼曼-匹克病是一种临床异质性的贮积病，其原发性代谢缺陷不明。我们使用了来自12名患者的皮肤成纤维细胞株进行体细胞杂交实验，这些患者代表了广泛的临床谱系。初步实验使用荧光素染色游离胆固醇作为互补标记，表明存在一个由一个突变株代表的主要组（α组）和一个次要组（β组）。随后的实验中，使用五个活性始终低于对照水平40%的突变株，测量鞘磷脂酶活性作为互补标记，证实了第二组的存在。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41b4/1049805/de50c468cb2e/jmedgene00283-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41b4/1049805/de50c468cb2e/jmedgene00283-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41b4/1049805/de50c468cb2e/jmedgene00283-0059-a.jpg

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本文引用的文献

1
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
2
Linkage of Niemann-Pick disease type C to human chromosome 18.尼曼-匹克病C型与人类18号染色体的连锁关系。
Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):2002-4. doi: 10.1073/pnas.90.5.2002.
3
Fibroblast alpha-galactosidase A activity for identification of Fabry's disease heterozygotes.用于鉴定法布里病杂合子的成纤维细胞α-半乳糖苷酶A活性
采用液相色谱/串联质谱法分析尼曼-匹克病 C 型模型细胞中类固醇激素的代谢改变。
Int J Mol Sci. 2022 Apr 18;23(8):4459. doi: 10.3390/ijms23084459.
4
Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C.五种尿胆固醇代谢产物用于尼曼-匹克病 C 型诊断性能的研究。
J Lipid Res. 2019 Dec;60(12):2074-2081. doi: 10.1194/jlr.M093971. Epub 2019 Oct 4.
5
Association of plasma fatty acid alteration with the severity of coronary artery disease lesions in Tunisian patients.突尼斯患者血浆脂肪酸改变与冠状动脉疾病病变严重程度的关联
Lipids Health Dis. 2017 Aug 14;16(1):154. doi: 10.1186/s12944-017-0538-y.
6
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.快速全外显子测序在诊断伴有胎儿水肿和急性肝衰竭的C型尼曼-匹克病中的应用
Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). doi: 10.1101/mcs.a002147. Print 2017 Nov.
7
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat.作为尼曼-匹克病 C 型患者死亡风险因素的吞咽困难：系统文献综述及米格列醇治疗研究证据
Orphanet J Rare Dis. 2012 Oct 6;7:76. doi: 10.1186/1750-1172-7-76.
8
A clinical approach to early-onset inheritable dementia.早发性遗传性痴呆的临床处理方法。
Am J Alzheimers Dis Other Demen. 2012 May;27(3):154-61. doi: 10.1177/1533317512444000.
9
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.尼曼-匹克病 C 型患儿米格列奈酯的长期疗效。
J Inherit Metab Dis. 2013 Jan;36(1):129-37. doi: 10.1007/s10545-012-9479-9. Epub 2012 Apr 5.
10
Niemann-Pick disease type C.尼曼-匹克病 C 型。
Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16.
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4
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5
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Proc Natl Acad Sci U S A. 1985 Dec;82(23):8247-51. doi: 10.1073/pnas.82.23.8247.
6
Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.尼曼-匹克病C型：临床变异性及基于胆固醇酯化缺陷的诊断。对70例患者的一项协作研究。
Clin Genet. 1988 May;33(5):331-48. doi: 10.1111/j.1399-0004.1988.tb03460.x.
7
Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.编码人酸性鞘磷脂酶的cDNA克隆的分离：选择性加工转录本的出现
EMBO J. 1989 Sep;8(9):2469-73. doi: 10.1002/j.1460-2075.1989.tb08382.x.
8
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Pediatr Res. 1989 Jul;26(1):67-72. doi: 10.1203/00006450-198907000-00019.
10
Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis.一个患有非神经型尼曼-匹克病和海蓝色组织细胞增多症的家庭中，四名同胞的高密度脂蛋白胆固醇水平极低。
J Med Genet. 1990 Aug;27(8):499-504. doi: 10.1136/jmg.27.8.499.