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Monoamine oxidase A activity in fibroblasts as a functional confirmation of variants.

作者信息

Peters Tessa M A, Lammerts van Bueren Irma, Geurtz Ben P B H, Coene Karlien L M, de Leeuw Nicole, Brunner Han G, Jónsson Jón J, Willemsen Michèl A A P, Wevers Ron A, Verbeek Marcel M

机构信息

Department of Neurology Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center Nijmegen The Netherlands.

Department of Laboratory Medicine, Translational Metabolic Laboratory (TML) Radboud University Medical Center Nijmegen The Netherlands.

出版信息

JIMD Rep. 2020 Dec 28;58(1):114-121. doi: 10.1002/jmd2.12194. eCollection 2021 Mar.

DOI:10.1002/jmd2.12194
PMID:33728254
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7932864/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/27ea/7932864/46c4039bddf7/JMD2-58-114-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/27ea/7932864/c22abfe6d910/JMD2-58-114-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/27ea/7932864/a3f2c6a18d74/JMD2-58-114-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/27ea/7932864/46c4039bddf7/JMD2-58-114-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/27ea/7932864/c22abfe6d910/JMD2-58-114-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/27ea/7932864/a3f2c6a18d74/JMD2-58-114-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/27ea/7932864/46c4039bddf7/JMD2-58-114-g003.jpg

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本文引用的文献

1
90 years of monoamine oxidase: some progress and some confusion.90 年的单胺氧化酶：一些进展和一些困惑。
J Neural Transm (Vienna). 2018 Nov;125(11):1519-1551. doi: 10.1007/s00702-018-1881-5. Epub 2018 Apr 10.
2
Non-invasive sources of cells with primary cilia from pediatric and adult patients.来自儿科和成年患者的具有初级纤毛的细胞的非侵入性来源。
Cilia. 2015 Jun 1;4:8. doi: 10.1186/s13630-015-0017-x. eCollection 2015.
3
New insights into Brunner syndrome and potential for targeted therapy.布伦纳综合征的新见解及靶向治疗潜力
遗传生物胺神经递质代谢障碍的表型和基因型。
Genes (Basel). 2023 Jan 19;14(2):263. doi: 10.3390/genes14020263.
4
Brunner syndrome caused by point mutation explained by multiscale simulation of enzyme reaction.由酶反应多尺度模拟解释的点突变引起的 Brunner 综合征。
Sci Rep. 2022 Dec 19;12(1):21889. doi: 10.1038/s41598-022-26296-7.
5
Modeling the Progression of Cardiac Catecholamine Deficiency in Lewy Body Diseases.路易体病中心脏儿茶酚胺缺乏进展的建模
J Am Heart Assoc. 2022 Jun 7;11(11):e024411. doi: 10.1161/JAHA.121.024411. Epub 2022 May 27.
Clin Genet. 2016 Jan;89(1):120-7. doi: 10.1111/cge.12589. Epub 2015 Apr 19.
4
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.20年后：通过靶向高通量测序在一个行为和认知改变的家族中鉴定出MAOA的第二个突变。
Eur J Hum Genet. 2014 Jun;22(6):776-83. doi: 10.1038/ejhg.2013.243. Epub 2013 Oct 30.
5
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.
6
Monoamine oxidase deficiency: a cause of flushing and attention-deficit/ hyperactivity disorder?
Arch Intern Med. 2001 Nov 12;161(20):2503-4. doi: 10.1001/archinte.161.20.2503.
7
Association between monoamine oxidase A activity in human male skin fibroblasts and genotype of the MAOA promoter-associated variable number tandem repeat.人类男性皮肤成纤维细胞中单胺氧化酶A活性与MAOA启动子相关可变数目串联重复序列基因型之间的关联
Hum Genet. 1999 Dec;105(6):542-51. doi: 10.1007/s004399900183.
8
Relationship between monoamine oxidase (MAO) A specific activity and proportion of human skin fibroblasts which express the enzyme in culture.单胺氧化酶（MAO）A的比活性与培养的人皮肤成纤维细胞中表达该酶的比例之间的关系。
J Neural Transm Suppl. 1998;52:17-27. doi: 10.1007/978-3-7091-6499-0_3.
9
Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes.单胺氧化酶A和B同工酶的特定基因缺陷具有独特的神经化学和临床表型特征。
J Clin Invest. 1996 Feb 15;97(4):1010-9. doi: 10.1172/JCI118492.
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X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.伴有明显行为障碍的X连锁边缘智力障碍：表型、基因定位及单胺代谢紊乱的证据
Am J Hum Genet. 1993 Jun;52(6):1032-9.