MUTATIONS OF KERATINOCYTE TRANSGLUTAMINASE IN LAMELLAR ICHTHYOSIS

被引：385

作者：

HUBER, M

RETTLER, I

BERNASCONI, K

FRENK, E

LAVRIJSEN, SPM

PONEC, M

BON, A

LAUTENSCHLAGER, S

SCHORDERET, DF

HOHL, D

机构：

[1] CHU VAUDOIS, HOP BEAUMONT, DEPT DERMATOL, CUTANEOUS BIOL LAB, CH-1011 LAUSANNE, SWITZERLAND

[2] LEIDEN UNIV HOSP, DEPT DERMATOL, 2333 AA LEIDEN, NETHERLANDS

[3] MUNICIPAL DERMATOL CLIN, CH-8000 ZURICH, SWITZERLAND

[4] CHU VAUDOIS, DEPT MED GENET, CH-1011 LAUSANNE, SWITZERLAND

[5] CHU VAUDOIS, MOLEC GENET UNIT, CH-1011 LAUSANNE, SWITZERLAND

来源：

SCIENCE | 1995年 / 267卷 / 5197期

关键词：

D O I：

10.1126/science.7824952

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Lamellar ichthyosis Is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was diminished or abnormal and no TGK protein was detected. Homozygous or compound heterozygous mutations of the TGK gene were identified in all families. These data suggest that defects in TGK cause lamellar ichthyosis and that intact cross-linkage of cornified cell envelopes is required for epidermal tissue homeostasis.

引用

页码：525 / 528

页数：4

共 28 条

[1] PHORBOL ESTER-STIMULATED PHOSPHORYLATION OF KERATINOCYTE TRANSGLUTAMINASE IN THE MEMBRANE ANCHORAGE REGION [J].