ABNORMAL LYSOSOMAL CATHEPSIN ACTIVITIES IN LEUKOCYTES AND CULTURED SKIN FIBROBLASTS IN LATE INFANTILE, BUT NOT IN JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS (BATTEN DISEASE)

被引：10

作者：

BENNETT, MJ

CHERN, L

CARPENTER, KH

SLADKY, JT

机构：

[1] CHILDRENS HOSP, DEPT PEDIAT, PHILADELPHIA, PA 19104 USA

[2] CHILDRENS HOSP, DEPT CHEM PATHOL, SHEFFIELD S10 2TH, S YORKSHIRE, ENGLAND

来源：

CLINICA CHIMICA ACTA | 1992年 / 208卷 / 1-2期

关键词：

NEURONAL CEROID-LIPOFUSCINOSIS; BATTEN DISEASE; CATHEPSINS; LYSOSOMAL PROTEASES;

D O I：

10.1016/0009-8981(92)90028-O

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

[No abstract available]

引用

页码：111 / 117

页数：7

共 45 条

[41] A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene (CLN2) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase
Ezaki, J
Tanida, I
Kanehagi, N
Kominami, E
JOURNAL OF NEUROCHEMISTRY, 1999, 72 (06) : 2573 - 2582
[42] Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models
Sohar, I
Sleat, DE
Jadot, M
Lobel, P
JOURNAL OF NEUROCHEMISTRY, 1999, 73 (02) : 700 - 711
[43] Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence
Mantel, I
Brantley, MA
Bellmann, C
Robson, AG
Holder, GE
Taylor, A
Anderson, G
Moore, AT
KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE, 2004, 221 (05) : 427 - 430
[44] ERYTHROCYTE-MEMBRANE REACYLATION IN JUVENILE NEURONAL CEROID-LIPOFUSCINOSIS - MEASUREMENT OF MEMBRANE-BOUND CARNITINE PALMITOYL TRANSFERASE, ACYL-COA SYNTHETASE, AND LYSOPHOSPHOLIPID - ACYL-COA ACYLTRANSFERASE ACTIVITIES
BENNETT, MJ
BORIACK, RL
AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 57 (02): : 304 - 306
[45] Lysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis
Bernardini, F
Warburton, MJ
BIOCHEMICAL JOURNAL, 2002, 366 : 521 - 529

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