MUTATION IN THE SPHINGOLIPID ACTIVATOR PROTEIN-2 IN A PATIENT WITH A VARIANT OF GAUCHER DISEASE

被引：150

作者：

SCHNABEL, D ^{[1
]}

SCHRODER, M ^{[1
]}

SANDHOFF, K ^{[1
]}

机构：

[1] INST ORGAN CHEM & BIOCHEM,GERHARD DOMAGK STR 1,W-5300 BONN 1,GERMANY

来源：

FEBS LETTERS | 1991年 / 284卷 / 01期

关键词：

SAP-2; DEFICIENCY; GAUCHER DISEASE;

D O I：

10.1016/0014-5793(91)80760-Z

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：

The lysosomal degradation of glucosylceramide requires the hydrolase, glucosylceramide-beta-glucosidase and a sphingolipid activator protein (Gaucher factor, SAP-2, saposin C). Genetic defects in either of these lysosomal proteins cause phenotypically similar disorders in man, the Gaucher disease. SAP-2 originates from a gene which generates a mRNA that codes for four homologous proteins. In a patient with an immunologically proven SAP-2 deficiency a G1154 --> T transversion (counted from A of the initiation codon ATG) was found in the mRNA of the SAP-2 precursor which results in the substitution of Phe for CyS385 in the mature SAP-2. The rest of the coding sequence remained entirely normal.

引用

页码：57 / 59

页数：3

共 19 条

[1]

Ausubel FM., 1995, MOL REPROD DEV, V3rd edn, DOI DOI 10.1002/MRD.1080010210

[2] ISOLATION OF BIOLOGICALLY-ACTIVE RIBONUCLEIC-ACID FROM SOURCES ENRICHED IN RIBONUCLEASE [J].

CHIRGWIN, JM ;

PRZYBYLA, AE ;

MACDONALD, RJ ;

RUTTER, WJ .

BIOCHEMISTRY, 1979, 18 (24) :5294-5299

[3] IMMUNOCHEMICAL CHARACTERIZATION OF 2 ACTIVATOR PROTEINS STIMULATING ENZYMATIC SPHINGOMYELIN DEGRADATION INVITRO ABSENCE OF ONE OF THEM IN A HUMAN GAUCHER DISEASE VARIANT [J].

CHRISTOMANOU, H ;

AIGNESBERGER, A ;

LINKE, RP .

BIOLOGICAL CHEMISTRY HOPPE-SEYLER, 1986, 367 (09) :879-890

[4] AB-VARIANT OF INFANTILE GM2 GANGLIOSIDOSIS - DEFICIENCY OF A FACTOR NECESSARY FOR STIMULATION OF HEXOSAMINIDASE A-CATALYZED DEGRADATION OF GANGLIOSIDE GM2 AND GLYCOLIPID GA2 [J].

CONZELMANN, E ;

SANDHOFF, K .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (08) :3979-3983

[5]

CONZELMANN E, 1987, METHOD ENZYMOL, V138, P792

[6]

Conzelmann E., 1989, MOL BASIS MEMBRANE A, P379

[7]

ERZBERGER A, 1979, THESIS U MUNCHEN

[8] THE PRECURSOR OF SULFATIDE ACTIVATOR PROTEIN IS PROCESSED TO 3 DIFFERENT PROTEINS [J].

FURST, W ;

MACHLEIDT, W ;

SANDHOFF, K .

BIOLOGICAL CHEMISTRY HOPPE-SEYLER, 1988, 369 (05) :317-328

[9] SPHINGOLIPID ACTIVATOR PROTEIN-DEFICIENCY IN A 16-WEEK-OLD ATYPICAL GAUCHER DISEASE PATIENT AND HIS FETAL SIBLING - BIOCHEMICAL SIGNS OF COMBINED SPHINGOLIPIDOSES [J].

HARZER, K ;

PATON, BC ;

POULOS, A ;

KUSTERMANNKUHN, B ;

ROGGENDORF, W ;

GRISAR, T ;

POPP, M .

EUROPEAN JOURNAL OF PEDIATRICS, 1989, 149 (01) :31-39

[10] THE ORGANIZATION OF THE GENE FOR THE HUMAN CEREBROSIDE SULFATE ACTIVATOR PROTEIN [J].

HOLTSCHMIDT, H ;

SANDHOFF, K ;

FURST, W ;

KWON, HY ;

SCHNABEL, D ;

SUZUKI, K .

FEBS LETTERS, 1991, 280 (02) :267-270

← 1 2 →