课题基金 / 基金详情

GLYCOGENOSIS TYPE II--MOLECULAR ANALYSIS OF PATIENTS

GLYCOGENOSIS TYPE II--MOLECULAR ANALYSIS OF PATIENTS
II 型糖原分解--患者的分子分析
批准号:
6277068
负责人:
Frank T Martiniuk
金额:
$2.03万
依托单位国家:
美国
项目类别:
财政年份:
1997
资助国家:
美国
项目状态:
已结题
起止时间:
1997-12-01 至 1998-11-30

项目摘要

项目成果

Frank T Martiniuk的其他基金

相似基金

相关文献

中文摘要
翻译
酸性麦芽糖酶缺乏导致糖原储存病(GSD II)
英文摘要
Acid maltase deficiency results in glycogen storage disease (GSD II) that may present in an infantile form (Pompe's Disease) or slowly progressive juvenile- or adult-onset form. The infantile form is rapidly fatal because of massive accumulation of glycogen in cardiac and skeletal muscle. Juvenile- or adult-onset forms are characterized by progressive skeletal muscle weakness and respiratory failure secondary to alveolar hypoventilation. Acid alpha glucosidase is a lysosomal enzyme that hydrolyzes linear a1-4 glucosidic linkages ranging from the large polymer glycogen to maltase. Martiniuk and colleagues cloned the 2856 bp cDNA in 1986 and have identified approximately 20 mutations in the enzyme that occurs in patients. The purpose of this study is to correlate acid maltase gene mutations in the enzyme that occurs in patients. The study will correlate acid maltase gene mutations with level of enzyme activity and course of disease. The laboratory will be used for oligonucleotide synthesis, DNA sequencing, DNA isolation, RNA isolation, PCR, Northern and Southern analysis, ultracentrifugation, and recombinant DNA techniques.
期刊论文(0)
专著(0)
科研奖励(0)
会议论文
GLYCOGENOSIS TYPE II--MOLECULAR ANALYSIS OF PATIENTS
NOVEL MUSCLE SPECIFIC VECTOR FOR GENE THERAPY OF ACID MALTASE DEFICIENCY
NOVEL MUSCLE SPECIFIC VECTOR FOR GENE THERAPY OF ACID MALTASE DEFICIENCY
GLYCOGENOSIS TYPE II--MOLECULAR ANALYSIS OF PATIENTS
海外基金