Familial hyperinsulinism caused by an activating glucokinase mutation

被引：445

作者：

Glaser, B

Kesavan, P

Heyman, M

Davis, E

Cuesta, A

Buchs, A

Stanley, CA

Thornton, PS

Permutt, MA

Matschinsky, FM

Herold, KC

机构：

[1] Hebrew Univ Jerusalem, Hadassah Med Sch, Dept Endocrinol & Metab, IL-91010 Jerusalem, Israel

[2] Univ Penn, Sch Med, Dept Biochem & Biophys, Philadelphia, PA 19104 USA

[3] Univ Penn, Sch Med, Diabet Res Ctr, Philadelphia, PA 19104 USA

[4] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA

[5] Childrens Hosp, Natl Metab Unit, Dublin, Ireland

[6] Washington Univ, Sch Med, Div Endocrinol Diabet & Metab, St Louis, MO USA

[7] Univ Illinois, Dept Internal Med, Chicago, IL USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1998年 / 338卷 / 04期

关键词：

D O I：

10.1056/NEJM199801223380404

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：226 / 230

页数：5

共 30 条

[1] 2 REGIONS OF GLUT-2 GLUCOSE-TRANSPORTER PROTEIN ARE RESPONSIBLE FOR ITS DISTINCTIVE AFFINITY FOR GLUCOSES [J].

BUCHS, A ;

WU, L ;

MORITA, H ;

WHITESELL, RR ;

POWERS, AC .

ENDOCRINOLOGY, 1995, 136 (10) :4224-4230

[2] GLUCOKINASE GENE VARIANTS IN THE COMMON FORM OF NIDDM [J].

CHIU, KC ;

TANIZAWA, Y ;

PERMUTT, MA .

DIABETES, 1993, 42 (04) :579-582

[3] CHARACTERIZATION OF 7 C-PEPTIDE ANTISERA [J].

FABER, OK ;

BINDER, C ;

MARKUSSEN, J ;

HEDING, LG ;

NAITHANI, VK ;

KUZUYA, H ;

BLIX, P ;

HORWITZ, DL ;

RUBENSTEIN, AH .

DIABETES, 1978, 27 :170-177

[4]

Froguel P, 1997, DIABETES REV, V5, P123

[5] FAMILIAL HYPERGLYCEMIA DUE TO MUTATIONS IN GLUCOKINASE - DEFINITION OF A SUBTYPE OF DIABETES-MELLITUS [J].

FROGUEL, P ;

ZOUALI, H ;

VIONNET, N ;

VELHO, G ;

VAXILLAIRE, M ;

SUN, F ;

LESAGE, S ;

STOFFEL, M ;

TAKEDA, J ;

PASSA, P ;

PERMUTT, MA ;

BECKMANN, JS ;

BELL, GI ;

COHEN, D .

NEW ENGLAND JOURNAL OF MEDICINE, 1993, 328 (10) :697-702

[6] ELISA FOR HUMAN PROINSULIN [J].

HARTLING, SG ;

DINESEN, B ;

KAPPELGARD, AM ;

FABER, OK ;

BINDER, C .

CLINICA CHIMICA ACTA, 1986, 156 (03) :289-297

[7] Structural instability of mutant beta-cell glucokinase: Implications for the molecular pathogenesis of maturity-onset diabetes of the young (type-2) [J].

Kesavan, P ;

Wang, LQ ;

Davis, E ;

Cuesta, A ;

Sweet, I ;

Niswender, K ;

Magnuson, MA ;

Matschinsky, FM .

BIOCHEMICAL JOURNAL, 1997, 322 :57-63

[8] An autosomal dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy, not linked to the sulfonylurea receptor locus [J].

Kukuvitis, A ;

Deal, C ;

Arbour, L ;

Polychronakos, C .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1997, 82 (04) :1192-1194

[9]

KUNKEL TA, 1987, METHOD ENZYMOL, V154, P367

[10] VARIABLE EFFECTS OF MATURITY-ONSET-DIABETES-OF-YOUTH (MODY)-ASSOCIATED GLUCOKINASE MUTATIONS ON SUBSTRATE INTERACTIONS AND STABILITY OF THE ENZYME [J].

LIANG, Y ;

KESAVAN, P ;

WANG, LQ ;

NISWENDER, K ;

TANIZAWA, Y ;

PERMUTT, MA ;

MAGNUSON, MA ;

MATSCHINSKY, FM .

BIOCHEMICAL JOURNAL, 1995, 309 :167-173

← 1 2 3 →