THE MOLECULAR-BASIS OF THE TYPE-1 GLYCOGEN-STORAGE DISEASES

被引:57
作者
BURCHELL, A
机构
[1] Department of Obstetrics and Gynaecology, University of Dundee, Ninewells Hospital and Medical School, Dundee
关键词
D O I
10.1002/bies.950140609
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Microsomal glucose-6-phosphatase catalyses the last step in liver glucose production. Glucose-6-phosphatase deficiency, now termed type 1 glycogen storage disease, was first described almost 40 years ago but until recently very little was known about the molecular basis of the various type 1 glycogen storage diseases. Recently we have shown that at least six different proteins are needed for normal glucose-6-phosphatase activity in liver. Four of the proteins have been purified and three cloned. Study of the type 1 glycogen storage diseases has stimulated investigations of the mechanisms of small molecule transport across the endoplasmic reticulum membrane and demonstrated the existence of novel endoplasmic reticulum transport proteins for glucose and phosphate.
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页码:395 / 400
页数:6
相关论文
共 53 条
[1]  
ARION WJ, 1980, J BIOL CHEM, V255, P396
[2]   THE ROLE OF HEPATIC GLUCOSE-6-PHOSPHATASE IN THE REGULATION OF CARBOHYDRATE METABOLISM [J].
ASHMORE, J ;
WEBER, G .
VITAMINS AND HORMONES, 1959, 17 :91-132
[3]   KINETIC AND IMMUNOLOGICAL EVIDENCE FOR THE ABSENCE OF GLUCOSE-6-PHOSPHATASE IN EARLY HUMAN CHORIONIC VILLI AND TERM PLACENTA [J].
BARASH, V ;
RISKIN, A ;
SHAFRIR, E ;
WADDELL, ID ;
BURCHELL, A .
BIOCHIMICA ET BIOPHYSICA ACTA, 1991, 1073 (01) :161-167
[4]  
BERTELOOT A, 1991, J BIOL CHEM, V266, P5497
[5]   PERINATAL DIAGNOSIS OF TYPE-1C GLYCOGEN-STORAGE DISEASE [J].
BURCHELL, A ;
WADDELL, ID ;
STEWART, L ;
HUME, R .
JOURNAL OF INHERITED METABOLIC DISEASE, 1989, 12 :315-317
[6]  
BURCHELL A, 1989, LANCET, V2, P291
[7]   MOLECULAR PATHOLOGY OF GLUCOSE-6-PHOSPHATASE [J].
BURCHELL, A .
FASEB JOURNAL, 1990, 4 (12) :2978-2988
[8]   IDENTIFICATION OF THE HUMAN HEPATIC-MICROSOMAL GLUCOSE-6-PHOSPHATASE ENZYME [J].
BURCHELL, A ;
WADDELL, ID ;
COUNTAWAY, JL ;
ARION, WJ ;
HUME, R .
FEBS LETTERS, 1988, 242 (01) :153-156
[9]   THE MOLECULAR-BASIS OF THE HEPATIC-MICROSOMAL GLUCOSE-6-PHOSPHATASE SYSTEM [J].
BURCHELL, A ;
WADDELL, ID .
BIOCHIMICA ET BIOPHYSICA ACTA, 1991, 1092 (02) :129-137
[10]  
BURCHELL A, 1990, GENETICS AND HUMAN NUTRITION, P93