Phenotypic characterization of mice with targeted disruption of glycosylasparaginase gene: a mouse model for aspartylglycosaminuria.

Suppr

超能文献

作者信息

Kaartinen V, Mononen I, Gonzalez-Gomez I, Noronkoski T, Heisterkamp N, Groffen J

机构信息

Department of Pathology, Children's Hospital Los Angeles Research Institute, California, USA.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):207-9. doi: 10.1023/a:1005387215224.

DOI:10.1023/a:1005387215224

PMID:9686358

Abstract

摘要

相似文献

Phenotypic characterization of mice with targeted disruption of glycosylasparaginase gene: a mouse model for aspartylglycosaminuria.

J Inherit Metab Dis. 1998 Jun;21(3):207-9. doi: 10.1023/a:1005387215224.

Human leukocyte glycosylasparaginase: cell-to-cell transfer and properties in correction of aspartylglycosaminuria.人白细胞糖基天冬酰胺酶：细胞间转移及其在纠正天冬氨酰葡糖胺尿症中的特性

FEBS Lett. 2001 Jun 15;499(1-2):77-81. doi: 10.1016/s0014-5793(01)02526-1.

Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin.天冬氨酰葡糖胺酶基因外显子7中的单碱基缺失在一名毛里求斯裔患者中导致了轻度形式的天冬氨酰葡糖胺尿症。

J Inherit Metab Dis. 1996;19(1):76-83. doi: 10.1007/BF01799351.

Aspartylglycosaminuria: a review.天冬氨酰氨基葡糖苷尿症：综述

Orphanet J Rare Dis. 2016 Dec 1;11(1):162. doi: 10.1186/s13023-016-0544-6.

Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients.携带与人类相似的天冬氨酰葡糖胺尿症突变的小鼠复制了患者的病理生理学特征。

Hum Mol Genet. 1998 Feb;7(2):265-72. doi: 10.1093/hmg/7.2.265.

Aspartylglycosaminuria: protein chemistry and molecular biology of the most common lysosomal storage disorder of glycoprotein degradation.天冬氨酰氨基葡糖苷尿症：糖蛋白降解最常见的溶酶体贮积症的蛋白质化学与分子生物学

FASEB J. 1993 Oct;7(13):1247-56. doi: 10.1096/fasebj.7.13.8405810.

Aspartylglycosaminuria: biochemistry and molecular biology.天冬氨酰氨基葡糖苷尿症：生物化学与分子生物学

Biochim Biophys Acta. 1999 Oct 8;1455(2-3):139-54. doi: 10.1016/s0925-4439(99)00076-9.

Enzymatic diagnosis of aspartylglycosaminuria by fluorometric assay of glycosylasparaginase in serum, plasma, or lymphocytes.

Clin Chem. 1994 Mar;40(3):385-8.

Progressive neurodegeneration in aspartylglycosaminuria mice.天冬氨酰氨基葡糖苷尿症小鼠的进行性神经变性

Am J Pathol. 1998 Oct;153(4):1293-300. doi: 10.1016/S0002-9440(10)65674-X.

A mouse model for the human lysosomal disease aspartylglycosaminuria.一种用于人类溶酶体疾病天冬氨酰氨基葡糖苷尿症的小鼠模型。

Nat Med. 1996 Dec;2(12):1375-8. doi: 10.1038/nm1296-1375.

引用本文的文献

Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation.用 AAV9/AGA 进行临床前基因治疗在天冬氨酰葡糖胺尿症小鼠中提供了临床转化的证据。

Mol Ther. 2021 Mar 3;29(3):989-1000. doi: 10.1016/j.ymthe.2020.11.012. Epub 2020 Nov 11.

Aspartylglycosaminuria: a review.天冬氨酰氨基葡糖苷尿症：综述

Orphanet J Rare Dis. 2016 Dec 1;11(1):162. doi: 10.1186/s13023-016-0544-6.

本文引用的文献

A mouse model for the human lysosomal disease aspartylglycosaminuria.一种用于人类溶酶体疾病天冬氨酰氨基葡糖苷尿症的小鼠模型。

Nat Med. 1996 Dec;2(12):1375-8. doi: 10.1038/nm1296-1375.

FASEB J. 1993 Oct;7(13):1247-56. doi: 10.1096/fasebj.7.13.8405810.

Aspartylglycosaminuria: a generalized storage disease. Morphological and histochemical studies.天冬氨酰氨基葡糖苷尿症：一种全身性贮积病。形态学和组织化学研究。

Acta Neuropathol. 1975;31(3):243-55. doi: 10.1007/BF00684563.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验