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Heterogeneity in the properties of mutant secreted lymphocyte antigen 6/urokinase receptor-related protein 1 (SLURP1) in Mal de Meleda.

作者信息

Adeyo O, Oberer M, Ploug M, Fong L G, Young S G, Beigneux A P

机构信息

Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, 90095, CA, U.S.A.

Institute of Molecular Biosciences, University of Graz, Humboldtstrasse 50/3, A-8010, Graz, Austria.

出版信息

Br J Dermatol. 2015 Oct;173(4):1066-9. doi: 10.1111/bjd.13868. Epub 2015 Aug 19.

DOI:10.1111/bjd.13868
PMID:25919322
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4624039/
Abstract
摘要

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Heterogeneity in the properties of mutant secreted lymphocyte antigen 6/urokinase receptor-related protein 1 (SLURP1) in Mal de Meleda.遗传性掌跖角化病中突变型分泌性淋巴细胞抗原6/尿激酶受体相关蛋白1（SLURP1）特性的异质性。
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2
Gene Symbol: ars. Disease: Mal de Meleda.基因符号：ars。疾病：梅勒达病。
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3
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4
A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family.一个破坏SLURP1基因起始密码子的新型纯合突变是一个近亲家族中梅勒达病的病因。
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5
Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.在一个爪哇家族中发现了 Mal de Meleda 的新型纯合 SLURP1 突变。
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6
A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent.来自印度次大陆的Meleda病患者中SLURP1基因的一种新突变。
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Targeting the Urokinase-Type Plasminogen Activator Receptor (uPAR) in Human Diseases With a View to Non-invasive Imaging and Therapeutic Intervention.以非侵入性成像和治疗干预为目的，针对人类疾病中的尿激酶型纤溶酶原激活物受体（uPAR）
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本文引用的文献

1
GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.糖基磷脂酰肌醇锚定高密度脂蛋白结合蛋白1（GPIHBP1）错义突变常导致GPIHBP1多聚化，从而阻止脂蛋白脂肪酶结合。
Circ Res. 2015 Feb 13;116(4):624-32. doi: 10.1161/CIRCRESAHA.116.305085. Epub 2014 Nov 11.
2
Multimerization of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) and familial chylomicronemia from a serine-to-cysteine substitution in GPIHBP1 Ly6 domain.糖基磷脂酰肌醇锚定的高密度脂蛋白结合蛋白1（GPIHBP1）的多聚化以及由GPIHBP1 Ly6结构域中丝氨酸到半胱氨酸的取代导致的家族性乳糜微粒血症。
J Biol Chem. 2014 Jul 11;289(28):19491-9. doi: 10.1074/jbc.M114.558528. Epub 2014 May 20.
3
Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice.Slurp1 缺陷型小鼠的掌跖角化病以及神经肌肉和代谢表型。
J Invest Dermatol. 2014 Jun;134(6):1589-1598. doi: 10.1038/jid.2014.19. Epub 2014 Jan 17.
4
CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.CD59 缺乏与慢性溶血性疾病和儿童复发性免疫介导性多发性神经病有关。
Blood. 2013 Jan 3;121(1):129-35. doi: 10.1182/blood-2012-07-441857. Epub 2012 Nov 13.
5
A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.SLURP1基因中的一种新型纯合错义突变导致具有非典型表型的Meleda病。
Arch Dermatol. 2011 Jun;147(6):748-50. doi: 10.1001/archdermatol.2011.138.
6
Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase.评估糖基磷脂酰肌醇锚定高密度脂蛋白结合蛋白 1（GPIHBP1）三指结构域与脂蛋白脂肪酶结合的作用。
J Biol Chem. 2011 Jun 3;286(22):19735-43. doi: 10.1074/jbc.M111.242024. Epub 2011 Apr 7.
7
Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.在GPIHBP1缺陷情况下出现的伴有低肝素后脂蛋白脂肪酶水平的乳糜微粒血症。
Circ Cardiovasc Genet. 2010 Apr;3(2):169-78. doi: 10.1161/CIRCGENETICS.109.908905. Epub 2010 Feb 2.
8
Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.GPIHBP1 的 Ly6 结构域中保守半胱氨酸的突变导致家族性乳糜微粒血症。
J Lipid Res. 2010 Jun;51(6):1535-45. doi: 10.1194/jlr.M002717. Epub 2009 Dec 21.
9
Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.伴有无法结合脂蛋白脂肪酶的突变型GPIHBP1（Q115P）的乳糜微粒血症。
Arterioscler Thromb Vasc Biol. 2009 Jun;29(6):956-62. doi: 10.1161/ATVBAHA.109.186577. Epub 2009 Mar 19.
10
SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda.SLURP1是表皮分化的晚期标志物，在梅勒达病中不存在。
J Invest Dermatol. 2007 Feb;127(2):301-8. doi: 10.1038/sj.jid.5700551. Epub 2006 Sep 28.