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Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis.

作者信息

Brown B I, Brown D H

出版信息

Proc Natl Acad Sci U S A. 1966 Aug;56(2):725-9. doi: 10.1073/pnas.56.2.725.

DOI:10.1073/pnas.56.2.725
PMID:5229990
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC224432/
Abstract
摘要

相似文献

1
Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis.IV型糖原贮积症一例中缺乏α-1,4-葡聚糖：α-1,4-葡聚糖6-糖基转移酶
Proc Natl Acad Sci U S A. 1966 Aug;56(2):725-9. doi: 10.1073/pnas.56.2.725.
2
Type IV glycogenosis. Patient with absence of a branching enzyme alpha-1,4-glucan:alpha-1,4-glucan 6-glycosyl transferase.IV型糖原贮积症。患者缺乏分支酶α-1,4-葡聚糖：α-1,4-葡聚糖6-糖基转移酶。
Lab Invest. 1968 Nov;19(5):546-57.
3
Type IV glycogen-storage disease. Light-microscopic, electron-microscopic, and enzymatic study.IV型糖原贮积病。光镜、电镜及酶学研究。
Am J Clin Pathol. 1976 Oct;66(4):702-9. doi: 10.1093/ajcp/66.4.702.
4
The subcellular distribution of enzymes in type II glycogenosis and the occurrence of an oligo-alpha-1,4-glucan glucohydrolase in human tissues.II型糖原贮积病中酶的亚细胞分布及人组织中寡聚-α-1,4-葡聚糖葡萄糖水解酶的存在
Biochim Biophys Acta. 1965 Oct 25;110(1):124-33. doi: 10.1016/s0926-6593(65)80101-1.
5
Type 3 glycogenosis. A biochemical and electron microscopic study.III型糖原贮积病。一项生化与电子显微镜研究。
Lab Invest. 1970 May;22(5):468-77.
6
[Enzyme study of 21 cases of glycogenosis].21例糖原贮积症的酶学研究
Rev Eur Etud Clin Biol. 1970 Aug-Sep;15(7):800-6.
7
Glycogenosis with reduced activity of leukocyte phosphorylase. A survey and a case.白细胞磷酸化酶活性降低的糖原贮积症。一项调查及一个病例。
Dan Med Bull. 1970 Jan;17(1):28-32.
8
[Debranching enzyme activity in leukocytes and glycogen content of erythrocytes in patients with type III glycogenosis].[III型糖原贮积症患者白细胞中的脱支酶活性及红细胞中的糖原含量]
Pediatr Pol. 1983 May;58(5):447-53.
9
[Biochemical diagnosis of glycogenosis type II (acid maltase deficiency) (author's transl)].糖原贮积症Ⅱ型（酸性麦芽糖酶缺乏症）的生化诊断（作者译）
J Clin Chem Clin Biochem. 1977 Dec;15(12):705-8.
10
[Heterogeneity of glycogenosis type VI. Study of leukocyte phosphorylase activity in 2 families].[肝糖原累积症 VI 型的异质性。对 2 个家族中白细胞磷酸化酶活性的研究]
Arch Fr Pediatr. 1972 Dec;29(10):1043-57.

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Front Bioeng Biotechnol. 2023 Jun 28;11:1139611. doi: 10.3389/fbioe.2023.1139611. eCollection 2023.
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A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum.一种表征糖原贮积病IV型表型变异的新方法：重新认识临床连续体。
Front Genet. 2022 Sep 13;13:992406. doi: 10.3389/fgene.2022.992406. eCollection 2022.
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Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases.骨骼肌糖原链长与多聚糖相关神经退行性疾病小鼠模型中的不溶性相关。
Cell Rep. 2019 Apr 30;27(5):1334-1344.e6. doi: 10.1016/j.celrep.2019.04.017.
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A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene.1例糖原分支酶基因罕见纯合突变的IV型糖原贮积病病例
Pediatr Gastroenterol Hepatol Nutr. 2018 Oct;21(4):365-368. doi: 10.5223/pghn.2018.21.4.365. Epub 2018 Oct 10.
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Analysis of mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review.通过蛋白质表达研究分析IV型糖原贮积病的突变：关于一种非进行性形式的报告及文献综述
Mol Genet Metab Rep. 2018 Sep 13;17:31-37. doi: 10.1016/j.ymgmr.2018.09.001. eCollection 2018 Dec.
9
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.IV型糖原贮积病的临床表现多样：从严重肝脾肿大到心脏功能不全。遗传和生化异常存在一些差异。
Arch Med Sci. 2018 Jan;14(1):237-247. doi: 10.5114/aoms.2018.72246. Epub 2017 Dec 19.
10
A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV.一种改良的酶法用于测定IV型糖原贮积病中的糖原含量。
JIMD Rep. 2016;30:89-94. doi: 10.1007/8904_2015_522. Epub 2016 Jun 26.

本文引用的文献

1
THE MECHANISM OF THE DE NOVO SYNTHESIS OF POLYSACCHARIDE BY PHOSPHORYLASE.磷酸化酶催化多糖从头合成的机制
Proc Natl Acad Sci U S A. 1961 Apr;47(4):479-85. doi: 10.1073/pnas.47.4.479.
2
TRANSFER OF GLUCOSYL UNITS TO OLIGOSACCHARIDES AND POLYSACCHARIDES BY THE ACTION OF URIDINE DIPHOSPHOGLUCOSE-ALPHA-GLUCAN TRANSGLUCOSYLASE.通过尿苷二磷酸葡萄糖-α-葡聚糖转葡糖基酶的作用将葡萄糖基单位转移至寡糖和多糖
Biochemistry. 1965 Mar;4:486-95. doi: 10.1021/bi00879a017.
3
AMYLO-1,6-GLUCOSIDASE ACTIVITY IN NORMAL LEUCOCYTES AND IN LEUCOCYTES OF PATIENTS WITH GLYCOGEN-STORAGE DISEASE.正常白细胞及糖原贮积病患者白细胞中的淀粉-1,6-葡萄糖苷酶活性
Clin Chim Acta. 1964 Mar;9:269-72. doi: 10.1016/0009-8981(64)90106-8.
4
alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyltransferase from liver.α-1,4-葡聚糖：来自肝脏的α-1,4-葡聚糖6-糖基转移酶
Biochim Biophys Acta. 1962 Dec 4;65:307-15. doi: 10.1016/0006-3002(62)91049-1.
5
Type IV glycogenosis. Report of a case proven by characterization of glycogen and studied at necropsy.IV型糖原贮积病。一例经糖原特征鉴定并经尸检研究证实的病例报告。
Bull Johns Hopkins Hosp. 1962 Sep;111:157-81.
6
The de novo synthesis of polysaccharide by phosphorylase.磷酸化酶催化的多糖从头合成。
Proc Natl Acad Sci U S A. 1961 Apr 15;47(4):469-78. doi: 10.1073/pnas.47.4.469.
7
Familial cirrhosis of the liver with storage of abnormal glycogen.伴有异常糖原储存的家族性肝硬化
Lab Invest. 1956 Jan-Feb;5(1):11-20.
8
The action of branching enzymes on outer chains of glycogen.分支酶对糖原外链的作用。
J Biol Chem. 1953 Jun;202(2):491-503.
9
Structure of glycogens and amylopectins. III. Normal and abnormal human glycogen.糖原与支链淀粉的结构。III. 正常与异常人体糖原
J Biol Chem. 1952 Dec;199(2):653-60.
10
Type IV glycogenosis.IV型糖原贮积病
Lab Invest. 1966 Jan;15(1 Pt 2):357-67.