Molecular biology of glucocerebrosidase and the treatment of Gaucher disease.
The inherited deficiency of glucocerebrosidase results in a group of sphingolipid storage disorders referred to collectively as Gaucher disease. Study of the biochemistry and cell biology of glucocerebrosidase has made possible an effective enzyme replacement therapy for the disease. Definition of the molecular genetics of glucocerebrosidase has improved diagnostic capabilities and presents the exciting possibility of a cure through gene therapy.
Barranger
J A
JA
Department of Human Genetics, University of Pittsburgh, USA.
Tomich
J
J
Weiler
S
S
Sakallah
S
S
Sansieri
C
C
Mifflin
T
T
Bahnson
A
A
Wei
F S
FS
Wei
J F
JF
Vallor
M
M
D000818:Animals; D030801:Animals, Genetically Modified; D002240:Carbohydrate Sequence; D004252:DNA Mutational Analysis; D005776:Gaucher Disease / Q000175:diagnosis / Q000201:enzymology / Q000628:therapy*; D018014:Gene Transfer Techniques; D015316:Genetic Therapy; D005962:Glucosylceramidase / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009844:Oligosaccharides / Q000737:chemistry; D016133:Polymerase Chain Reaction
D009844:Oligosaccharides; D005962:Glucosylceramidase