A different isoform of the transport protein mutated in the glycogen storage disease 1b is expressed in brain

被引：26

作者：

Middleditch, C ^{[1
]}

Clottes, E ^{[1
]}

Burchell, A ^{[1
]}

机构：

[1] Univ Dundee, Ninewells Hosp & Med Sch, Dept Obstet & Gynaecol, Dundee DD1 9SY, Scotland

来源：

FEBS LETTERS | 1998年 / 433卷 / 1-2期

基金：

英国医学研究理事会;

关键词：

glucose-6-phosphatase; glucose-6-phosphate translocase; glycogen storage disease; endoplasmic reticulum;

D O I：

10.1016/S0014-5793(98)00878-3

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：

There are differences in the kinetic properties of the liver and brain microsomal glucose-6-phosphate transport systems suggesting the possibility of tissue specific isoforms. The availability of a human liver cDNA sequence which is mutated in patients with deficiencies of liver microsomal glucose-6-phosphate transport (glycogen storage disease 1b) made it possible to determine if a brain isoform exists. Northern blots of liver and brain RNA revealed that the mRNA of the brain form is slightly longer than the liver one. Isolation and sequencing of the respective human brain cDNA revealed that the brain protein has an additional 22 amino acid sequence. (C) 1998 Federation of European Biochemical Societies.

引用

页码：33 / 36

页数：4

共 19 条

[1] The gene for glycogen-storage disease type 1b maps to chromosome 11q23 [J].

Annabi, B ;

Hiraiwa, H ;

Mansfield, BC ;

Lei, KJ ;

Ubagai, T ;

Polymeropoulos, MH ;

Moses, SW ;

Parvari, R ;

Hershkovitz, E ;

Mandel, H ;

Fryman, M ;

Chou, JY .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (02) :400-405

[2]

ARION WJ, 1980, J BIOL CHEM, V255, P396

[3] IMMUNOCYTOCHEMICAL DETECTION OF THE MICROSOMAL GLUCOSE-6-PHOSPHATASE IN HUMAN BRAIN ASTROCYTES [J].

BELL, JE ;

HUME, R ;

BUSUTTIL, A ;

BURCHELL, A .

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 1993, 19 (05) :429-435

[4] RAT HEPATIC-MICROSOMAL GLUCOSE-6-PHOSPHATASE PROTEIN-LEVELS ARE INCREASED IN STREPTOZOTOCIN-INDUCED DIABETES [J].

BURCHELL, A ;

CAIN, DI .

DIABETOLOGIA, 1985, 28 (11) :852-856

[5] MAMMALIAN CARBAMYL-PHOSPHATE - GLUCOSE PHOSPHOTRANSFERASE AND GLUCOSE-6-PHOSPHATE PHOSPHOHYDROLASE - EXTENDED TISSUE DISTRIBUTION [J].

COLILLA, W ;

JORGENSON, RA ;

NORDLIE, RC .

BIOCHIMICA ET BIOPHYSICA ACTA, 1975, 377 (01) :117-125

[6] ASTROCYTIC GLUCOSE-6-PHOSPHATASE AND THE PERMEABILITY OF BRAIN MICROSOMES TO GLUCOSE-6-PHOSPHATE [J].

FORSYTH, RJ ;

BARTLETT, K ;

BURCHELL, A ;

SCOTT, HM ;

EYRE, JA .

BIOCHEMICAL JOURNAL, 1993, 294 :145-151

[7]

GERN I, 1997, FEBS LETT, V419, P235

[8] STRUCTURE AND FUNCTION OF THE UHP GENES FOR THE SUGAR PHOSPHATE-TRANSPORT SYSTEM IN ESCHERICHIA-COLI AND SALMONELLA-TYPHIMURIUM [J].

ISLAND, MD ;

WEI, BY ;

KADNER, RJ .

JOURNAL OF BACTERIOLOGY, 1992, 174 (09) :2754-2762

[9] RETRIEVAL OF TRANSMEMBRANE PROTEINS TO THE ENDOPLASMIC-RETICULUM [J].

JACKSON, MR ;

NILSSON, T ;

PETERSON, PA .

JOURNAL OF CELL BIOLOGY, 1993, 121 (02) :317-333

[10] IDENTIFICATION OF A CONSENSUS MOTIF FOR RETENTION OF TRANSMEMBRANE PROTEINS IN THE ENDOPLASMIC-RETICULUM [J].

JACKSON, MR ;

NILSSON, T ;

PETERSON, PA .

EMBO JOURNAL, 1990, 9 (10) :3153-3162

← 1 2 →