贮积病中神经元功能障碍的生物学机制 - Suppr

Biology of neuronal dysfunction in storage disorders.

作者信息

Walkley S U, March P A

机构信息

Department of Neuroscience, Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461.

出版信息

J Inherit Metab Dis. 1993;16(2):284-7. doi: 10.1007/BF00710266.

DOI:10.1007/BF00710266

PMID:8411982

Abstract

摘要

相似文献

Biology of neuronal dysfunction in storage disorders.贮积病中神经元功能障碍的生物学机制

J Inherit Metab Dis. 1993;16(2):284-7. doi: 10.1007/BF00710266.

Infantile osteopetrosis and neuronal storage disease.婴儿骨硬化症和神经元贮积病。

Neurology. 1983 Apr;33(4):437-41. doi: 10.1212/wnl.33.4.437.

Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes.68 例神经元蜡样脂褐质沉积症及其亚型的临床、电生理、影像学和超微结构描述。

Pediatr Neurol. 2014 Jan;50(1):85-95. doi: 10.1016/j.pediatrneurol.2013.08.008. Epub 2013 Oct 10.

Neurology of the neuronal ceroid-lipofuscinoses: late infantile and juvenile types.神经元蜡样脂褐质沉积症的神经学：晚期婴儿型和青少年型

Am J Med Genet. 1992 Feb 15;42(4):533-5. doi: 10.1002/ajmg.1320420421.

Cathepsin deficiency as a model for neuronal ceroid lipofuscinoses.组织蛋白酶缺乏作为神经元蜡样脂褐质沉积症的一种模型。

Am J Pathol. 2005 Dec;167(6):1473-6. doi: 10.1016/S0002-9440(10)61233-3.

Pathogenesis of brain dysfunction in Batten disease.巴滕病脑功能障碍的发病机制。

Am J Med Genet. 1995 Jun 5;57(2):196-203. doi: 10.1002/ajmg.1320570218.

Redefining the "hyperphotoconvulsive" response of late-infantile neuronal ceroid lipofuscinosis.重新定义晚发性婴儿神经元蜡样脂褐质沉积症的“强光惊厥性”反应。

Pediatr Neurol. 2014 Feb;50(2):195-6. doi: 10.1016/j.pediatrneurol.2013.09.005. Epub 2013 Nov 19.

Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis.在理解巴顿病或神经元蜡样脂褐质沉积症神经生物学方面的进展。

Curr Opin Neurol. 2003 Apr;16(2):121-8. doi: 10.1097/01.wco.0000063762.15877.9b.

Localized proton magnetic resonance spectroscopy of cerebral metabolic disturbances in children with neuronal ceroid lipofuscinosis.神经元蜡样脂褐质沉积症患儿脑代谢紊乱的局部质子磁共振波谱分析

Neuropediatrics. 1996 Oct;27(5):242-8. doi: 10.1055/s-2007-973772.

Adult type of neuronal ceroid-lipofuscinosis.成人型神经元蜡样脂褐质沉积症

J Inherit Metab Dis. 1993;16(2):237-40. doi: 10.1007/BF00710253.

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The involvement of Purkinje cells in progressive myoclonic epilepsy: Focus on neuronal ceroid lipofuscinosis.浦肯野细胞在进行性肌阵挛性癫痫中的作用：关注神经元蜡样质脂褐质沉积症。

Neurobiol Dis. 2023 Sep;185:106258. doi: 10.1016/j.nbd.2023.106258. Epub 2023 Aug 11.

Pathophysiology of neuropathic lysosomal storage disorders.神经病变性溶酶体贮积症的病理生理学。

J Inherit Metab Dis. 2010 Aug;33(4):347-62. doi: 10.1007/s10545-010-9075-9. Epub 2010 Apr 29.

Selectivity and types of cell death in the neuronal ceroid lipofuscinoses.神经元蜡样脂褐质沉积症中的细胞死亡选择性及类型

Brain Pathol. 2004 Jan;14(1):86-96. doi: 10.1111/j.1750-3639.2004.tb00502.x.

Apparent loss and hypertrophy of interneurons in a mouse model of neuronal ceroid lipofuscinosis: evidence for partial response to insulin-like growth factor-1 treatment.神经元蜡样脂褐质沉积症小鼠模型中中间神经元的明显缺失和肥大：对胰岛素样生长因子-1治疗产生部分反应的证据

J Neurosci. 1999 Apr 1;19(7):2556-67. doi: 10.1523/JNEUROSCI.19-07-02556.1999.

Batten disease (ceroid-lipofuscinosis): the enigma of subunit c of mitochondrial ATP synthase accumulation.巴滕病（蜡样脂褐质沉积症）：线粒体ATP合酶亚基c蓄积之谜。

Neurochem Res. 1995 Nov;20(11):1301-4. doi: 10.1007/BF00992504.

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Studies of the uptake of 3 H-gaba and ( 3 H)glycine in slices and homogenates of rat brain and spinal cord by electron microscopic autoradiography.通过电子显微镜放射自显影术对大鼠脑和脊髓切片及匀浆中³H-γ-氨基丁酸和（³H）甘氨酸摄取的研究。

Brain Res. 1972 Jun 8;41(1):131-43. doi: 10.1016/0006-8993(72)90621-x.

Metabolism and nervous system disease: a challenge for our times. Part II.代谢与神经系统疾病：当代面临的一项挑战。第二部分。

Metab Brain Dis. 1986 Jun;1(2):91-117. doi: 10.1007/BF00999381.

Ectopic dendritogenesis and associated synapse formation in swainsonine-induced neuronal storage disease.苦马豆素诱导的神经元贮积病中的异位树突形成及相关突触形成

J Neurosci. 1988 Feb;8(2):445-57. doi: 10.1523/JNEUROSCI.08-02-00445.1988.

Pathobiology of neuronal storage disease.

Int Rev Neurobiol. 1988;29:191-244. doi: 10.1016/s0074-7742(08)60087-2.

Lysosomal storage of the DCCD reactive proteolipid subunit of mitochondrial ATP synthase in human and ovine ceroid lipofuscinoses.人及羊蜡样脂褐质沉积症中线粒体ATP合酶的二环己基碳二亚胺反应性蛋白脂质亚基的溶酶体储存。

Adv Exp Med Biol. 1989;266:211-22; discussion 223. doi: 10.1007/978-1-4899-5339-1_15.

Neuroaxonal dystrophy in neuronal storage disorders: evidence for major GABAergic neuron involvement.神经元贮积症中的神经轴突营养不良：主要γ-氨基丁酸能神经元受累的证据

J Neurol Sci. 1991 Jul;104(1):1-8. doi: 10.1016/0022-510x(91)90208-o.

Ectopic dendrites occur only on cortical pyramidal cells containing elevated GM2 ganglioside in alpha-mannosidosis.异位树突仅出现在α-甘露糖苷贮积症中含有升高的GM2神经节苷脂的皮质锥体细胞上。

Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11330-4. doi: 10.1073/pnas.88.24.11330.

The cellular pathology of neuronal ceroid-lipofuscinosis. A golgi-electronmicroscopic study.神经元蜡样脂褐质沉积症的细胞病理学。一项高尔基体电子显微镜研究。

Arch Neurol. 1977 May;34(5):298-305. doi: 10.1001/archneur.1977.00500170052010.

Pigmentoarchitectonic pathology of the isocortex in juvenile neuronal ceroid-lipofuscinosis: axonal enlargements in layer IIIab and cell loss in layer V.青少年神经元蜡样脂褐质沉积症中同型皮质的色素构筑病理学：Ⅲab层轴突增粗及Ⅴ层细胞丢失。

Acta Neuropathol. 1979 Apr 12;46(1-2):79-83. doi: 10.1007/BF00684808.

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Biology of neuronal dysfunction in storage disorders.

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