Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

Bertold Schrank; Rudolf Gotz; Jennifer M. Gunnersen

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Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

机译：存活运动神经元基因（人类脊髓性肌萎缩症的候选基因）的失活导致早期小鼠胚胎中大量细胞死亡

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Proximal spinal muscular atrophy is an au- tosomal recessive human disease of spinal motor neurons leading to muscular weakness with onset predominantly in infancy and childhood. With an estimated heterozygote fre- quency of 1/40 it is the most common monogenic disorder lethal to infants; milder forms represent the second most common pediatric neuromuscular disorder. Two candidate genes - survival motor neuron (SMN) and neuronal apoptosis inhibitory protein have been identified on chromosome 5q13 by positional cloning. However, the functional impact of these genes and the mechanism leading to a degeneration of motor neurons remain to be defined.

机译：近端脊髓性肌萎缩是一种脊髓运动神经元的自发性隐性人类疾病，导致肌肉无力，主要在婴儿期和儿童期发作。据估计，杂合子频率为1/40，这是最常见的对婴儿致死的单基因疾病。较轻的形式代表第二最常见的小儿神经肌肉疾病。通过定位克隆在染色体5q13上鉴定了两个候选基因-生存运动神经元（SMN）和神经元凋亡抑制蛋白。然而，这些基因的功能影响和导致运动神经元变性的机制仍有待确定。

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《Proceedings of the National Academy of Sciences of the United States of America》 |1997年第18期|p.9920-9925|共6页
作者
Bertold Schrank; Rudolf Gotz; Jennifer M. Gunnersen;
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收录信息美国《科学引文索引》(SCI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
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正文语种 eng
中图分类自然科学总论;
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1. Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III. [J] . Jablonka S, Schrank B, Kralewski M, Human Molecular Genetics . 2000,第3期

机译：小鼠中减少的存活运动神经元（Smn）基因剂量可导致运动神经元变性：III型脊髓性肌萎缩症的动物模型。
2. High incidence of a survival motor neuron gene/cBCD541 gene ratio of 2 in Japanese parents of spinal muscular atrophy patients: a characteristic background of spinal muscular atrophy in Japan? [J] . Nishio H, Ishikawa Y, Lee MJ, Journal of neurology . 1999,第1期

机译：日本脊柱肌萎缩症患者父母中存活运动神经元基因/ cBCD541基因比例为2的高发生率：日本脊柱肌萎缩症的特征背景？
3. High incidence of a survival motor neuron gene/cBCD541 gene ratio of 2 in Japanese parents of spinal muscular atrophy patients: a characteristic background of spinal muscular atrophy in Japan? [J] . Nishio H, Ishikawa Y, Lee MJ, Journal of neurology . 1999,第1期

机译：日本脊柱肌萎缩症患者父母中存活运动神经元基因/ cBCD541基因比例为2的高发生率：日本脊柱肌萎缩症的特征背景？
4. Early decrease of survival signal protein and DNA repair enzyme in spinal motor neuron of presymptomatic transgenic mice with a mutant SOD1 gene [C] . M. Shiote, H. Ilieva, I. Nagano, International Symposium on Molecular Mechanism and Epochal Therapeutics for Ischemic Stroke and Dementia . 2003

机译：用突变SOD1基因早期降低生存信号蛋白和脊柱运动神经元中的脊髓运动神经元的DNA修复酶
5. Characterizing the effect of mutations within exon 7 of the murine survival motor neuron gene to model spinal muscular atrophy in the mouse. [D] . Hammond, Suzan Michelle. 2010

机译：表征小鼠存活运动神经元基因外显子7内突变对小鼠脊髓性肌萎缩模型的影响。
6. Inactivation of the survival motor neuron gene a candidate gene for human spinal muscular atrophy leads to massive cell death in early mouse embryos [O] . Bertold Schrank, Rudolf Götz, Jennifer M. Gunnersen, 1997

机译：存活运动神经元基因（人类脊髓性肌萎缩症的候选基因）的失活导致早期小鼠胚胎中大量细胞死亡
7. Reduced survival motor neuron (Smn) gene dose in mice leads to motor neuron degeneration: an animal model for spinal muscular atrophy type III [O] . S. Jablonka 2000

机译：降低的存活电机神经元（SMN）基因剂量在小鼠中导致运动神经元变性：脊柱肌萎缩型III型动物模型

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

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