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Genetics. Gamma-secretase and human disease.

作者信息

Kelleher Raymond J, Shen Jie

机构信息

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.

出版信息

Science. 2010 Nov 19;330(6007):1055-6. doi: 10.1126/science.1198668.

DOI:10.1126/science.1198668
PMID:21097925
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4556372/
Abstract
摘要

相似文献

1
Genetics. Gamma-secretase and human disease.遗传学。γ-分泌酶与人类疾病。
Science. 2010 Nov 19;330(6007):1055-6. doi: 10.1126/science.1198668.
2
Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa).γ-分泌酶基因NCSTN、PSENEN和PSEN1的突变是化脓性汗腺炎（反向性痤疮）罕见形式的基础。
J Invest Dermatol. 2012 Oct;132(10):2459-2461. doi: 10.1038/jid.2012.162. Epub 2012 May 24.
3
Gamma-secretase gene mutations in familial acne inversa.家族性化脓性汗腺炎中γ-分泌酶基因突变。
Science. 2010 Nov 19;330(6007):1065. doi: 10.1126/science.1196284. Epub 2010 Oct 7.
4
Hidradenitis Suppurativa-Like Lesions Associated with Pharmacologic Inhibition of Gamma-Secretase.与γ-分泌酶的药物抑制相关的化脓性汗腺炎样病变
J Invest Dermatol. 2018 Apr;138(4):979-981. doi: 10.1016/j.jid.2017.09.051. Epub 2017 Nov 11.
5
Absence of pathogenic γ-secretase mutations in a South Wales cohort of familial and sporadic hidradenitis suppurativa (acne inversa).南威尔士家族性和散发性化脓性汗腺炎（反向性痤疮）队列中致病性γ-分泌酶突变的缺失
Br J Dermatol. 2013 Apr;168(4):874-6. doi: 10.1111/bjd.12048. Epub 2013 Mar 7.
6
γ-Secretase gene mutations link acne inversa with Alzheimer's disease.γ-分泌酶基因突变将反向性痤疮与阿尔茨海默病联系起来。
Br J Dermatol. 2011 Feb;164(2):235-6. doi: 10.1111/j.1365-2133.2011.10221.x.
7
Mutations in the γ-secretase genes PSEN1, PSENEN, and NCSTN in a family with acne inversa.一个毛囊闭锁三联症家族中γ-分泌酶基因PSEN1、PSENEN和NCSTN的突变
Eur J Dermatol. 2018 Jun 1;28(3):374-376. doi: 10.1684/ejd.2018.3244.
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γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.γ-分泌酶突变与化脓性汗腺炎：对疾病发病机制的新认识。
J Invest Dermatol. 2013 Mar;133(3):601-607. doi: 10.1038/jid.2012.372. Epub 2012 Oct 25.
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Hidradenitis suppurativa: haploinsufficiency of gamma-secretase components does not affect gamma-secretase enzyme activity in vitro.化脓性汗腺炎：γ-分泌酶组分的单倍剂量不足在体外不影响γ-分泌酶的酶活性。
Br J Dermatol. 2016 Sep;175(3):632-5. doi: 10.1111/bjd.14621. Epub 2016 Jul 28.
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A Case Report of Inversa Acne and Evaluation for Mutations in the NCSTN, PSENEN, and PSEN1 Genes.逆剥性痤疮病例报告及NCSTN、PSENEN和PSEN1基因突变评估
Chin Med J (Engl). 2016 Jul 20;129(14):1759-60. doi: 10.4103/0366-6999.185853.

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Inhibiting BACE1 to reverse synaptic dysfunctions in Alzheimer's disease.抑制β-分泌酶1以逆转阿尔茨海默病中的突触功能障碍。
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Genotoxicity Studies of Titanium Dioxide Nanoparticles (TiO2NPs) in the Brain of Mice.二氧化钛纳米颗粒（TiO₂ NPs）对小鼠脑部的遗传毒性研究。
Scientifica (Cairo). 2016;2016:6710840. doi: 10.1155/2016/6710840. Epub 2016 Feb 29.

本文引用的文献

1
Hidradenitis suppurativa.化脓性汗腺炎。
Dermatol Clin. 2010 Oct;28(4):779-93. doi: 10.1016/j.det.2010.07.003.
2
A presenilin-1 mutation identified in familial Alzheimer disease with cotton wool plaques causes a nearly complete loss of gamma-secretase activity.在伴有棉绒斑的家族性阿尔茨海默病中发现的早老素-1 突变导致γ-分泌酶活性几乎完全丧失。
J Biol Chem. 2010 Jul 16;285(29):22350-9. doi: 10.1074/jbc.M110.116962. Epub 2010 May 11.
3
Presenilins are essential for regulating neurotransmitter release.早老素对于调节神经递质释放至关重要。
Nature. 2009 Jul 30;460(7255):632-6. doi: 10.1038/nature08177.
4
Epidermal growth factor receptor and notch pathways participate in the tumor suppressor function of gamma-secretase.表皮生长因子受体和Notch信号通路参与γ-分泌酶的肿瘤抑制功能。
J Biol Chem. 2007 Nov 2;282(44):32264-73. doi: 10.1074/jbc.M703649200. Epub 2007 Sep 7.
5
When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease.当失即得：早老素蛋白水解功能降低导致β淀粉样蛋白42/β淀粉样蛋白40增加。关于早老素突变在阿尔茨海默病中作用的讨论要点
EMBO Rep. 2007 Feb;8(2):136-40. doi: 10.1038/sj.embor.7400896.
6
The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.阿尔茨海默病的早老素假说：功能丧失致病机制的证据
Proc Natl Acad Sci U S A. 2007 Jan 9;104(2):403-9. doi: 10.1073/pnas.0608332104. Epub 2006 Dec 29.
7
Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration.早老素功能丧失会导致记忆和突触可塑性受损，随后出现年龄依赖性神经退行性变。
Neuron. 2004 Apr 8;42(1):23-36. doi: 10.1016/s0896-6273(04)00182-5.
8
Notch1 functions as a tumor suppressor in mouse skin.Notch1在小鼠皮肤中作为一种肿瘤抑制因子发挥作用。
Nat Genet. 2003 Mar;33(3):416-21. doi: 10.1038/ng1099. Epub 2003 Feb 18.
9
The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics.阿尔茨海默病的淀粉样蛋白假说：治疗之路上的进展与问题
Science. 2002 Jul 19;297(5580):353-6. doi: 10.1126/science.1072994.
10
Loss of presenilin 1 is associated with enhanced beta-catenin signaling and skin tumorigenesis.早老素1的缺失与β-连环蛋白信号增强及皮肤肿瘤发生有关。
Proc Natl Acad Sci U S A. 2001 Sep 11;98(19):10863-8. doi: 10.1073/pnas.191284198. Epub 2001 Aug 21.