Antigen presentation and lysosomal membrane traffic in the Chediak-Higashi syndrome

Faigle W.; Amigorena S.; Raposo G.

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Antigen presentation and lysosomal membrane traffic in the Chediak-Higashi syndrome

机译：Chediak-Higashi综合征的抗原呈递和溶酶体膜运输

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Chediak-Higashi syndrome is a rare human genetic disease causing severe immunodeficiencies and defects in pigmentation. The mutated gene codes for a large cytosolic protein with several domains mediating protein-protein interactions, playing a yet unclear role in endosomal membrane transport. Several genetic diseases with similar clinical characteristics (like the Griscelli, Hermansky-Pudlak, and Chediak-Higashi syndromes) also show related defects in intracellular membrane trafficking. Analyzing intracellular transport in cells from these patients shed light on the function of important players in lysosomal membrane traffic in effector cells of the immune system. [References: 35]

机译：Chediak-Higashi综合征是一种罕见的人类遗传病，会导致严重的免疫缺陷和色素沉着缺陷。突变的基因编码具有多个介导蛋白质-蛋白质相互作用的结构域的大的胞质蛋白质，在内体膜运输中起着尚不清楚的作用。几种具有相似临床特征的遗传疾病（如格里切利，赫曼斯基-普德拉克和谢迪亚克-东综合症）也显示出细胞内膜运输中的相关缺陷。分析来自这些患者的细胞内的细胞内转运，阐明了免疫系统效应细胞中溶酶体膜运输中重要参与者的功能。 [参考：35]

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《Protoplasma: An International Journal of Cell Biology》 |2000年第4期|共6页
作者
Faigle W.; Amigorena S.; Raposo G.;
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正文语种 eng
中图分类细胞形态学;
关键词
Chediak-higashi syndrome; Macrolysosomes; Major histocompatibility complex class ii; Antigen presentation; Endosomal transport; Immunodeficiency; Syndrome gene; Protein; Identification; Mutations; Beige; Expression; Disease; Mouse; Vesicles; Humans;

机译：Chediak-higashi综合征;溶酶体;主要组织相容性复合体ii类;抗原提呈;内体转运;免疫缺陷;综合征基因;蛋白质;鉴定;突变;米色;表达;疾病;小鼠;囊泡;人类;

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1. Antigen presentation and lysosomal membrane traffic in the Chediak-Higashi syndrome [J] . Faigle W., Amigorena S., Raposo G. Protoplasma: An International Journal of Cell Biology . 2000,第3a4期

机译：Chediak-Higashi综合征的抗原呈递和溶酶体膜运输
2. Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome [J] . Yaqiong Jin, Li Zhang, Senfen Wang, Scientific reports. . 2017,第1期

机译：全基因组测序鉴定了与常染色体隐性Chediak-higashi综合征相关的新型化合物杂合溶酶体贩运调节因子突变
3. Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells [J] . Gil-Krzewska Aleksandra, Wood Stephanie M., Murakami Yousuke, The Journal of Allergy and Clinical Immunology . 2016,第4期

机译：Chediak-Higashi综合征：溶酶体运输调节结构域调节裂解颗粒的胞吐作用，但不调节自然杀伤细胞分泌的细胞因子
4. Lysosomal cathepsins: structure, role in antigen processing and presentation, and cancer [C] . Vito Turk, Boris Turk, Gregor Guncar, International Symposium on Regulation of Enzyme Activity and Synthesis in Normal and Neoplastic Tissues . 2003

机译：溶酶体组织蛋白酶：结构，在抗原加工和呈现中的作用，以及癌症
5. Study of LvsB in Dictyostelium discoideum provides insights into the Chediak-Higashi syndrome. [D] . Kypri, Elena. 2007

机译：对盘基网柄菌中的LvsB的研究提供了对Chediak-Higashi综合征的见解。
6. Neurobeachin: A Protein Kinase A-Anchoringbeige/Chediak-Higashi Protein Homolog Implicated in Neuronal Membrane Traffic [O] . Xiaolu Wang, Friedrich W. Herberg, Michael M. Laue, 2000

机译：Neurobeachin：涉及神经元膜运输的蛋白激酶A锚定米色/ Chediak-Higashi蛋白同源物。
7. Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome [O] . Yaqiong Jin, Li Zhang, Senfen Wang, 2017

机译：全基因组测序鉴定了与常染色体隐性Chediak-higashi综合征相关的新型化合物杂合溶酶体贩运调节因子突变
8. Isolation and Sequencing of a cDNA Clone Encoding Lysosomal Membrane Glycoprotein mLAMP-1: Sequence Similarity to Proteins Bearing Onco-Differentiation Antigens [R] . Chenn, J. W., Cha, Y., Yukselt, K. U., 1988

机译：溶酶体膜糖蛋白mLamp-1的cDNa克隆的分离和测序：与携带分化抗原的蛋白质的序列相似性

Antigen presentation and lysosomal membrane traffic in the Chediak-Higashi syndrome

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