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Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.

作者信息

Doccini Stefano, Sartori Stefano, Maeser Stefan, Pezzini Francesco, Rossato Sara, Moro Francesca, Toldo Irene, Przybylski Michael, Santorelli Filippo M, Simonati Alessandro

机构信息

Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Pisa, Italy.

Child Neurology, Paediatric University Hospital, Padua, Italy.

出版信息

J Neurol. 2016 May;263(5):1029-1032. doi: 10.1007/s00415-016-8111-6. Epub 2016 Apr 12.

DOI:10.1007/s00415-016-8111-6
PMID:27072142
Abstract
摘要

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Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders.小鼠中Cln1基因的破坏揭示了两种最致命的儿童期神经退行性溶酶体贮积症之间的共同致病联系。
Hum Mol Genet. 2015 Oct 1;24(19):5416-32. doi: 10.1093/hmg/ddv266. Epub 2015 Jul 9.
2
Experimental therapies in the neuronal ceroid lipofuscinoses.神经元蜡样脂褐质沉积症的实验性疗法。
Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2292-300. doi: 10.1016/j.bbadis.2015.04.026. Epub 2015 May 6.
3
Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.
神经元蜡样脂褐质沉积症：临床问题的多方面探讨，综述
Front Neurol. 2022 Mar 11;13:811686. doi: 10.3389/fneur.2022.811686. eCollection 2022.
4
The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease.CTSD 基因 c.863A>G（p.Glu288Gly）变异与 CLN10 病无关。
Mol Genet Genomic Med. 2021 Oct;9(10):e1777. doi: 10.1002/mgg3.1777. Epub 2021 Jul 31.
5
Rapid and Progressive Loss of Multiple Retinal Cell Types in Cathepsin D-Deficient Mice-An Animal Model of CLN10 Disease.组织蛋白酶 D 缺乏型小鼠中多种视网膜细胞类型的快速进行性丧失——CLN10 病的动物模型。
Cells. 2021 Mar 21;10(3):696. doi: 10.3390/cells10030696.
6
Cathepsin D Variants Associated With Neurodegenerative Diseases Show Dysregulated Functionality and Modified α-Synuclein Degradation Properties.与神经退行性疾病相关的组织蛋白酶D变体表现出功能失调和α-突触核蛋白降解特性改变。
Front Cell Dev Biol. 2021 Feb 11;9:581805. doi: 10.3389/fcell.2021.581805. eCollection 2021.
7
Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey.神经元蜡样脂褐质沉积症：来自土耳其的14例患者的遗传和表型谱
Neurol Sci. 2021 Mar;42(3):1103-1111. doi: 10.1007/s10072-021-05067-8. Epub 2021 Jan 23.
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Neurology. 2014 Nov 11;83(20):1873-5. doi: 10.1212/WNL.0000000000000981. Epub 2014 Oct 8.
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Human pathology in NCL.神经元蜡样脂褐质沉积症中的人类病理学
Biochim Biophys Acta. 2013 Nov;1832(11):1807-26. doi: 10.1016/j.bbadis.2012.11.014. Epub 2012 Nov 29.
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Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis.进行性传导缺陷和心脏性死亡见于晚发性婴儿神经元蜡样脂褐质沉积症。
Dev Med Child Neurol. 2012 Jul;54(7):663-6. doi: 10.1111/j.1469-8749.2011.04170.x. Epub 2011 Dec 23.
8
Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease).心脏受累的少年神经元蜡样脂褐质沉积症（Batten 病）。
Neurology. 2011 Apr 5;76(14):1245-51. doi: 10.1212/WNL.0b013e31821435bd.
9
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).组织蛋白酶D缺乏症（CLN10）的新型突变及首次产前筛查
Acta Neuropathol. 2009 Feb;117(2):201-8. doi: 10.1007/s00401-008-0426-7. Epub 2008 Sep 2.
10
Cathepsin D deficiency is associated with a human neurodegenerative disorder.组织蛋白酶D缺乏与一种人类神经退行性疾病相关。
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