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Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility.明显性腺功能减退可能不是无名指蛋白216的警示信号：与共济失调、舞蹈症和生育能力相关的两个新突变
Mov Disord Clin Pract. 2019 Oct 23;6(8):724-726. doi: 10.1002/mdc3.12839. eCollection 2019 Nov.
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Clinical and genetic spectrum of -related disorder: a new case and literature review.- 相关障碍的临床和遗传谱：一个新病例及文献复习。
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RNF216 is essential for spermatogenesis and male fertility†.RNF216 对于精子发生和男性生育力是必不可少的†。
Biol Reprod. 2019 May 1;100(5):1132-1134. doi: 10.1093/biolre/ioz006.
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Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation.由RNF216突变引起的共济失调和低促性腺激素性性腺功能减退伴家族内变异性
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RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.RNF216突变是常染色体隐性亨廷顿样疾病的新病因。
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Mechanism and chain specificity of RNF216/TRIAD3, the ubiquitin ligase mutated in Gordon Holmes syndrome.戈登霍尔姆斯综合征相关的泛素连接酶 RNF216/TRIAD3 的作用机制和链特异性。
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RNF216 Regulates the Migration of Immortalized GnRH Neurons by Suppressing Beclin1-Mediated Autophagy.RNF216通过抑制Beclin1介导的自噬来调节永生化促性腺激素释放激素神经元的迁移。
Front Endocrinol (Lausanne). 2019 Jan 24;10:12. doi: 10.3389/fendo.2019.00012. eCollection 2019.
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Mutations in RNF216 do not cause 4H syndrome.RNF216基因的突变不会导致4H综合征。
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Regulation of autophagy by E3 ubiquitin ligase RNF216 through BECN1 ubiquitination.E3泛素连接酶RNF216通过对BECN1进行泛素化修饰来调控自噬。
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Neuronal ceroid lipofuscinosis with hypergonadotropic hypogonadism.伴有高促性腺激素性性腺功能减退的神经元蜡样脂褐质沉积症。
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Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216.低促性腺激素性性腺功能减退作为由RNF216引起的严重神经内分泌疾病的首发表现。
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Gordon Holmes Syndrome Model Mice Exhibit Alterations in Microglia, Age, and Sex-Specific Disruptions in Cognitive and Proprioceptive Function.戈登·霍姆斯综合征模型小鼠表现出小胶质细胞的改变、年龄以及认知和本体感觉功能的性别特异性破坏。
eNeuro. 2024 Jan 25;11(1). doi: 10.1523/ENEURO.0074-23.2023. Print 2024 Jan.
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A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.一个土耳其 Gordon Holmes 综合征病例中 RNF216 基因突变的新发现。
BMC Med Genomics. 2023 May 9;16(1):98. doi: 10.1186/s12920-023-01529-4.
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Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.共济失调和性腺机能减退：相关基因和综合征的综述。
Cerebellum. 2024 Apr;23(2):688-701. doi: 10.1007/s12311-023-01549-x. Epub 2023 Mar 30.
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The E3 ubiquitin ligase RNF216/TRIAD3 is a key coordinator of the hypothalamic-pituitary-gonadal axis.E3泛素连接酶RNF216/TRIAD3是下丘脑-垂体-性腺轴的关键协调因子。
iScience. 2022 May 10;25(6):104386. doi: 10.1016/j.isci.2022.104386. eCollection 2022 Jun 17.
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NGS in Hereditary Ataxia: When Rare Becomes Frequent.遗传性共济失调中的 NGS：从罕见变为常见。
Int J Mol Sci. 2021 Aug 6;22(16):8490. doi: 10.3390/ijms22168490.
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Spinocerebellar ataxia type 48: last but not least.48型脊髓小脑共济失调：最后但同样重要。
Neurol Sci. 2020 Sep;41(9):2423-2432. doi: 10.1007/s10072-020-04408-3. Epub 2020 Apr 27.

本文引用的文献

1
Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings.2名阿根廷兄弟姐妹中由RNF216新突变引起的戈登·霍姆斯综合征
Mov Disord Clin Pract. 2019 Jan 16;6(3):259-262. doi: 10.1002/mdc3.12721. eCollection 2019 Mar.
2
Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation.由RNF216突变引起的共济失调和低促性腺激素性性腺功能减退伴家族内变异性
Neurol Int. 2016 Jun 15;8(2):6444. doi: 10.4081/ni.2016.6444.
3
The 4H syndrome due to RNF216 mutation.由RNF216突变引起的4H综合征。
Parkinsonism Relat Disord. 2015 Sep;21(9):1122-3. doi: 10.1016/j.parkreldis.2015.07.012. Epub 2015 Jul 18.
4
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.RNF216突变是常染色体隐性亨廷顿样疾病的新病因。
Neurology. 2015 Apr 28;84(17):1760-6. doi: 10.1212/WNL.0000000000001521. Epub 2015 Apr 3.
5
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.由泛素化紊乱引起的共济失调、痴呆和性腺功能减退症。
N Engl J Med. 2013 May 23;368(21):1992-2003. doi: 10.1056/NEJMoa1215993. Epub 2013 May 8.

Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility.

作者信息

Lieto Maria, Galatolo Daniele, Roca Alessandro, Cocozza Sirio, Pontillo Giuseppe, Fico Tommasina, Pane Chiara, Saccà Francesco, De Michele Giuseppe, Santorelli Filippo Maria, Filla Alessandro

机构信息

Department of Neurosciences and Reproductive and Odontostomatological Sciences Federico II University Naples Italy.

Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Stella Maris Pisa Italy.

出版信息

Mov Disord Clin Pract. 2019 Oct 23;6(8):724-726. doi: 10.1002/mdc3.12839. eCollection 2019 Nov.

DOI:10.1002/mdc3.12839
PMID:31745488
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6856465/
Abstract
摘要