Patient-Derived Induced Pluripotent Stem Cell Models for Phenotypic Screening in the Neuronal Ceroid Lipofuscinoses.
Patient-Derived Induced Pluripotent Stem Cell Models for Phenotypic Screening in the Neuronal Ceroid Lipofuscinoses.
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DOI：
10.3390/molecules26206235
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发表时间：
2021-10-15
期刊：
影响因子：
--
通讯作者：
Trippier PC
中科院分区：
文献类型：
--
作者：
Morsy A;Carmona AV;Trippier PC
Batten病或神经元蜡样质脂褐质沉积症（NCL）是一组罕见的、致命的、遗传性神经退行性溶酶体贮积症。许多基因（CLN 1-CLN 8，CLN 10-CLN 14）被鉴定为突变可导致NCL;然而，潜在的病理生理学仍然难以捉摸。尽管如此，NCL具有一些相同的特征和症状，但在严重程度和症状发作方面因年龄而异。一些常见的症状包括视力的逐渐丧失、精神和运动退化、癫痫发作、过早死亡，以及在罕见的成人发病中的痴呆。目前，所有形式的NCL都是致命的，并且没有治愈性治疗。诱导多能干细胞（iPSC）可以分化成人体的任何细胞类型。从患者重编程的细胞具有获得疾病发病机制的优点，沿着疾病相关表型的重演。它们作为实用的模型系统，为疾病机制提供了新的线索，并提供了一个表型筛选平台，使药物发现成为可能。在此，我们提供了一些不同NCL的可用iPSC模型的概述。更具体地说，我们强调了这些模型中可能刺激靶点识别和药物开发的发现。
Batten disease or neuronal ceroid lipofuscinosis (NCL) is a group of rare, fatal, inherited neurodegenerative lysosomal storage disorders. Numerous genes (CLN1–CLN8, CLN10–CLN14) were identified in which mutations can lead to NCL; however, the underlying pathophysiology remains elusive. Despite this, the NCLs share some of the same features and symptoms but vary in respect to severity and onset of symptoms by age. Some common symptoms include the progressive loss of vision, mental and motor deterioration, epileptic seizures, premature death, and in the rare adult-onset, dementia. Currently, all forms of NCL are fatal, and no curative treatments are available. Induced pluripotent stem cells (iPSCs) can differentiate into any cell type of the human body. Cells reprogrammed from a patient have the advantage of acquiring disease pathogenesis along with recapitulation of disease-associated phenotypes. They serve as practical model systems to shed new light on disease mechanisms and provide a phenotypic screening platform to enable drug discovery. Herein, we provide an overview of available iPSC models for a number of different NCLs. More specifically, we highlight findings in these models that may spur target identification and drug development.
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影响因子：
3.5
作者：
Cotman, SL;Vrbanac, V;MacDonald, ME
通讯作者：
MacDonald, ME
影响因子：
4.8
作者：
Chandrachud, Uma;Walker, Mathew W.;Cotman, Susan L.
通讯作者：
Cotman, Susan L.
模拟人类神经和神经退行性疾病：从诱导多能干细胞到神经元分化及其在神经创伤中的应用。
影响因子：
4.8
作者：
Bahmad H;Hadadeh O;Chamaa F;Cheaito K;Darwish B;Makkawi AK;Abou-Kheir W
通讯作者：
Abou-Kheir W
影响因子：
3.7
作者：
Burnight, Erin R.;Bohrer, Laura R.;Wiley, Luke A.
通讯作者：
Wiley, Luke A.
DOI：
10.1007/8904_2013_226
发表时间：
2013-01-01
期刊：
JIMD REPORTS, VOL 11
影响因子：
--
作者：
Gavin, M.;Wen, G. Y.;Velinov, M.
通讯作者：
Velinov, M.