AMACR mutations cause late-onset autosomal recessive cerebellar ataxia.
作者信息
Dick David, Horvath Rita, Chinnery Patrick F
机构信息
Department of Neurology, Norfolk and NorwichUniversity Hospital, Norwich, UK.
出版信息
Neurology. 2011 May 17;76(20):1768-70. doi: 10.1212/WNL.0b013e31821a4484.
Abstract
摘要
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本文引用的文献
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Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.Rundataxin 是一种具有 RUN 和二酰基甘油结合结构域的新型蛋白，在一种新的隐性共济失调中发生突变。
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2
The influence of the branched-chain fatty acids pristanic acid and Refsum disease-associated phytanic acid on mitochondrial functions and calcium regulation of hippocampal neurons, astrocytes, and oligodendrocytes.支链脂肪酸植烷酸和 Refsum 病相关植烷酸对海马神经元、星形胶质细胞和少突胶质细胞线粒体功能和钙调节的影响。
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Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.一名患有α-甲基酰基辅酶A消旋酶缺乏症患者的复发性脑病
J Neurol Neurosurg Psychiatry. 2008 Apr;79(4):448-50. doi: 10.1136/jnnp.2007.129478. Epub 2007 Nov 21.
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Peroxisomal disorders affecting phytanic acid alpha-oxidation: a review.影响植烷酸α-氧化的过氧化物酶体疾病：综述
Biochem Soc Trans. 2007 Nov;35(Pt 5):881-6. doi: 10.1042/BST0350881.
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A new defect of peroxisomal function involving pristanic acid: a case report.一种涉及降植烷酸的过氧化物酶体功能新缺陷：病例报告
J Neurol Neurosurg Psychiatry. 2002 Mar;72(3):396-9. doi: 10.1136/jnnp.72.3.396.
6
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.编码过氧化物酶体α-甲基酰基辅酶A消旋酶的基因突变会导致成人迟发性感觉运动神经病。
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