鞘磷脂酶同工酶与C型尼曼-匹克病的基因缺陷 - Suppr

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Isoenzymes of sphingomyelinase and the genetic defect in Niemann-Pick disease, type C.

作者信息

Callahan J W, Khalil M, Gerrie J

出版信息

Biochem Biophys Res Commun. 1974 May 20;58(2):385-90. doi: 10.1016/0006-291x(74)90376-3.

DOI:10.1016/0006-291x(74)90376-3

PMID:4366391

Abstract

摘要

相似文献

Isoenzymes of sphingomyelinase and the genetic defect in Niemann-Pick disease, type C.鞘磷脂酶同工酶与C型尼曼-匹克病的基因缺陷

Biochem Biophys Res Commun. 1974 May 20;58(2):385-90. doi: 10.1016/0006-291x(74)90376-3.

Letters: A simple sphingomyelinase determination for Niemann-Pick disease: differential diagnosis of types A, B and C.信函：一种用于尼曼-匹克病的简单鞘磷脂酶测定法：A、B和C型的鉴别诊断

J Neurochem. 1973 Oct;21(4):999-1001. doi: 10.1111/j.1471-4159.1973.tb07545.x.

Phosphodiesterases in human tissues. II. Decreased hydrolysis of synthetic substrate by tissues from patients with the Niemann-Pick syndrome.人体组织中的磷酸二酯酶。II. 尼曼-匹克综合征患者组织对合成底物的水解作用降低。

Biochem Med. 1974 Nov;11(3):262-74. doi: 10.1016/0006-2944(74)90123-9.

Sphingomyelinase isozymes of human tissues: a phpothesis on enzymatic differentiation of the neuropathic and non-neuropathic forms of Niemann-Pick disease.人类组织中的鞘磷脂酶同工酶：关于尼曼-匹克病神经病变型和非神经病变型酶分化的一种假说。

Biochem Biophys Res Commun. 1977 Aug 8;77(3):999-1003. doi: 10.1016/s0006-291x(77)80076-4.

Niemann-Pick disease, Type C: evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation.尼曼-匹克病C型：刺激鞘磷脂和葡萄糖脑苷脂降解的激活因子缺乏的证据

Hoppe Seylers Z Physiol Chem. 1980 Oct;361(10):1489-502. doi: 10.1515/bchm2.1980.361.2.1489.

Resolution of tissue sphingomyelinase isoelectric profile in multiple components is extraction-dependent: evidence for a component defect in Niemann-Pick disease type C is spurious.

J Neurochem. 1977 Dec;29(6):1155-7. doi: 10.1111/j.1471-4159.1977.tb06525.x.

Sphingomyelinases and the genetic defects in Niemann-Pick disease.鞘磷脂酶与尼曼-匹克病的基因缺陷

Adv Exp Med Biol. 1976;68:367-78. doi: 10.1007/978-1-4684-7735-1_24.

Studies on sphingomyelinase and beta-glucosidase activities in Niemann-Pick disease variants. Phosphodiesterase activities measured with natural and artificial substrates.尼曼-匹克病变异型中鞘磷脂酶和β-葡萄糖苷酶活性的研究。用天然和人工底物测定磷酸二酯酶活性。

Biochim Biophys Acta. 1983 Jun 16;752(1):54-64. doi: 10.1016/0005-2760(83)90232-1.

Sphingomyelinase activity levels in human peripheral blood leukocytes, using [3H]sphingomyelin as substrate: study of heterozygotes and homozygotes for Niemann-Pick disease variants.以[3H]鞘磷脂为底物测定人外周血白细胞中的鞘磷脂酶活性水平：尼曼-匹克病变异型杂合子和纯合子的研究

Clin Chim Acta. 1978 May 16;86(1):37-43. doi: 10.1016/0009-8981(78)90455-2.

Chromatofocusing of skin fibroblast sphingomyelinase: alterations in Niemann-Pick disease type C shared by GM1-gangliosidosis.皮肤成纤维细胞鞘磷脂酶的色谱聚焦法：GM1神经节苷脂贮积症所共有的尼曼-皮克病C型的改变。

Clin Chim Acta. 1983 May 30;130(2):155-61. doi: 10.1016/0009-8981(83)90112-2.

引用本文的文献

Niemann-Pick disease type C. Pathological, histochemical, ultrastructural and biochemical studies.C型尼曼-匹克病。病理学、组织化学、超微结构及生物化学研究。

Eur J Pediatr. 1981 Jul;136(3):263-74. doi: 10.1007/BF00442993.

Niemann-Pick disease: lipid storage in bone marrow macrophages.尼曼-皮克病：骨髓巨噬细胞中的脂质蓄积。

Histochem J. 1983 Nov;15(11):1065-77. doi: 10.1007/BF01003970.

Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants.体细胞杂交研究显示尼曼-皮克病不同变体中的基因突变。

Hum Genet. 1980;54(3):409-12. doi: 10.1007/BF00291589.

Alterations in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease type C.C型尼曼-匹克病患者培养成纤维细胞中胆固醇代谢的改变。

J Inherit Metab Dis. 1987;10(4):339-46. doi: 10.1007/BF01799976.

Niemann-Pick disease (Crocker's type C): A histological study of the distribution and qualitative differences fo the storage process.尼曼-皮克病（克罗克C型）：储存过程的分布及质性差异的组织学研究

Acta Neuropathol. 1975 Dec 19;33(3):191-200. doi: 10.1007/BF00688393.

[Sphingolipid storage disease as an example of a molecular neuropathology (author's transl)].以鞘脂贮积病为例的分子神经病理学（作者译）

Arch Psychiatr Nervenkr (1970). 1976 Apr 30;221(3):213-25. doi: 10.1007/BF00418481.

Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide beta-galactosidase and non-specific beta-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cells.克拉伯病（球形细胞脑白质营养不良症）。白细胞、培养的皮肤成纤维细胞及羊水细胞的半乳糖基神经酰胺β-半乳糖苷酶和非特异性β-半乳糖苷酶研究。

J Med Genet. 1976 Jun;13(3):195-9. doi: 10.1136/jmg.13.3.195.

Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D).新斯科舍省尼曼-匹克病（D型）的遗传和人口统计学方面。

Am J Hum Genet. 1978 Sep;30(5):530-8.

Sphingomyelinase activities in cultured skin fibroblasts from patients with Niemann-Pick Disease.尼曼-匹克病患者培养的皮肤成纤维细胞中的鞘磷脂酶活性。

Hum Genet. 1979 Mar 12;47(2):159-67. doi: 10.1007/BF00273198.

Neurovisceral lipidosis compatible with Niemann-Pick disease type C: morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family.与C型尼曼-匹克病相符的神经内脏脂质沉积症：1例晚发性婴儿病例的形态学和生化研究以及同一家族1例产前病例的酶和脂质检测

Acta Neuropathol. 1978 Aug 7;43(1-2):97-104. doi: 10.1007/BF00685003.

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