Peroxisomal Enzyme Deficiency in X-linked Dominant Conradi—Hünermann Syndrome

1989 ◽  
pp. 358-360 ◽  
Author(s):  
P. T. Clayton ◽  
D. Chester Kalter ◽  
D. J. Atherton ◽  
G. T. N. Besley ◽  
D. M. Broadhead
Keyword(s):  
Enzyme Deficiency ◽  
Peroxisomal Enzyme

scholarly journals PEROXISOMAL ENZYME DEFICIENCY IN THE CONRADI-HUNERMAN FORM OF CHONDRODYSPLASIA PUNCTATA

1987 ◽  
Vol 21 (4) ◽  
pp. 228A-228A
Author(s):  
Ronald D Holmes ◽  
Amiya K Hajra ◽  
Golder N Wilson
Keyword(s):  
Enzyme Deficiency ◽  
Chondrodysplasia Punctata ◽  
Peroxisomal Enzyme

Pristanic acid and phytanic acid in plasma from patients with a single peroxisomal enzyme deficiency

1991 ◽  
Vol 14 (3) ◽  
pp. 345-348 ◽  
Author(s):  
H. J. ten Brink ◽  
R. J. A. Wanders ◽  
F. Stellaard ◽  
R. B. H. Schutgens ◽  
C. Jakobs
Keyword(s):  
Phytanic Acid ◽  
Enzyme Deficiency ◽  
Pristanic Acid ◽  
Peroxisomal Enzyme

Peroxisomal Enzyme Deficiency in X-linked Dominant Conradi—Hünermann Syndrome

1989 ◽  
Vol 12 (S2) ◽  
pp. 358-360 ◽  
Author(s):  
P. T. Clayton ◽  
D. Chester Kalter ◽  
D. J. Atherton ◽  
G. T. N. Besley ◽  
D. M. Broadhead
Keyword(s):  
Enzyme Deficiency ◽  
Peroxisomal Enzyme

Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency

2000 ◽  
Vol 436 (5) ◽  
pp. 459-465 ◽  
Author(s):  
I. Kerckaert ◽  
B. T. Poll-The ◽  
M. Espeel ◽  
M. Duran ◽  
A. B. C. Roeleveld ◽  
...  
Keyword(s):  
Enzyme Deficiency ◽  
Peroxisomal Enzyme

Dissection of the molecular mechanisms of protein targeting to the peroxisome using immunofluorescence and immunocryoelectron microscopies

1990 ◽  
Vol 48 (3) ◽  
pp. 44-45
Author(s):  
G-A. Keller ◽  
S. J. Gould ◽  
S. Subramani ◽  
S. Krisans
Keyword(s):  
Mammalian Cells ◽  
Molecular Mechanisms ◽  
Protein Targeting ◽  
Firefly Luciferase ◽  
Peroxisomal Enzyme ◽  
Transfected Cells ◽  
Peroxisomal Targeting ◽  
Targeting Signal ◽  
Series Of Experiments ◽  
Peroxisomal Targeting Signal

Subcellular compartments within eukaryotic cells must each be supplied with unique sets of proteins that must be directed to, and translocated across one or more membranes of the target organelles. This transport is mediated by cis- acting targeting signals present within the imported proteins. The following is a chronological account of a series of experiments designed and carried out in an effort to understand how proteins are targeted to the peroxisomal compartment.-We demonstrated by immunocryoelectron microscopy that the enzyme luciferase is a peroxisomal enzyme in the firefly lantern. -We expressed the cDNA encoding firefly luciferase in mammalian cells and demonstrated by immunofluorescence that the enzyme was transported into the peroxisomes of the transfected cells. -Using deletions, linker insertions, and gene fusion to identify regions of luciferase involved in its transport to the peroxisomes, we demonstrated that luciferase contains a peroxisomal targeting signal (PTS) within its COOH-terminal twelve amino acid.

Replacement Therapy for Inherited Enzyme Deficiency

1973 ◽  
Vol 289 (1) ◽  
pp. 9-14 ◽  
Author(s):  
Roscoe O. Brady ◽  
John F. Tallman ◽  
William G. Johnson ◽  
Andrew E. Gal ◽  
William R. Leahy ◽  
...  
Keyword(s):  
Replacement Therapy ◽  
Enzyme Deficiency
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