Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy.
Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy.
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作者：
Feltri ML;Weinstock NI;Favret J;Dhimal N;Wrabetz L;Shin D
球样细胞脑白质营养不良（GLD），也称为克拉伯病，是一种溶酶体贮积症，引起中枢和外周神经系统广泛脱髓鞘。GLD是由溶酶体水解酶半乳糖神经酰胺酶（GALC）的功能缺失突变引起的，该酶分解代谢髓鞘鞘脂半乳糖神经酰胺。GLD的病理生理学是复杂的，并且反映了GALC在中枢和外周神经系统（CNS和PNS）中的许多神经胶质细胞和神经细胞类型以及外周中的白细胞和肾脏中的表达。多年来，GLD已经获得了广泛的科学和医学利益，特别是作为一个模型系统，研究基因治疗和新的临床前治疗方法，以治疗自发的小鼠模型GLD。在这里，我们回顾了Krabbe病领域的最新研究结果，特别强调GALC生理学，GLD病理生理学和治疗策略的新方面。
Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a lysosomal storage disorder causing extensive demyelination in the central and peripheral nervous systems. GLD is caused by loss-of-function mutations in the lysosomal hydrolase, galactosylceramidase (GALC), which catabolizes the myelin sphingolipid galactosylceramide. The pathophysiology of GLD is complex and reflects the expression of GALC in a number of glial and neural cell types in both the central and peripheral nervous systems (CNS and PNS), as well as leukocytes and kidney in the periphery. Over the years, GLD has garnered a wide range of scientific and medical interests, especially as a model system to study gene therapy and novel preclinical therapeutic approaches to treat the spontaneous murine model for GLD. Here, we review recent findings in the field of Krabbe disease, with particular emphasis on novel aspects of GALC physiology, GLD pathophysiology, and therapeutic strategies.
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DOI：
10.1073/pnas.93.23.13280
发表时间：
1996-11-12
影响因子：
11.1
作者：
Bosio, A;Binczek, E;Stoffel, W
通讯作者：
Stoffel, W
影响因子：
3.5
作者：
Corado, Carley R.;Pinkstaff, Jason;Bradbury, Allison M.
通讯作者：
Bradbury, Allison M.
影响因子：
5.3
作者：
Cantuti-Castelvetri, Ludovico;Maravilla, Erick;Bongarzone, Ernesto R.
通讯作者：
Bongarzone, Ernesto R.
影响因子：
6.1
作者：
Cantuti-Castelvetri, Ludovico;Zhu, Hongling;Givogri, Maria I.;Chidavaenzi, Robstein L.;Lopez-Rosas, Aurora;Bongarzone, Ernesto R.
通讯作者：
Bongarzone, Ernesto R.
影响因子：
30.8
作者：
Chang D;Nalls MA;Hallgrímsdóttir IB;Hunkapiller J;van der Brug M;Cai F;International Parkinson's Disease Genomics Consortium;23andMe Research Team;Kerchner GA;Ayalon G;Bingol B;Sheng M;Hinds D;Behrens TW;Singleton AB;Bhangale TR;Graham RR
通讯作者：
Graham RR