Literature summary for 3.2.1.46 extracted from

Luddi, A.; Crifasi, L.; Capaldo, A.; Piomboni, P.; Costantino-Ceccarini, E.
Suppression of galactocerebrosidase premature termination codon and rescue of galactocerebrosidase activity in twitcher cells (2016), J. Neurosci. Res., 94, 1273-1283 .

Search for more literature for 3.2.1.46

Application

Application	Comment	Organism
medicine	incubation of human fibroblasts from patients bearing nonsense mutations with PTC124 (premature termination codon, a well-characterized compound known to induce ribosomal read-through) and NMDI1 (nonsense-mediated mRNA decay inhibitor 1) increases the levels of mRNA and rescues galactocerebrosidase enzymatic activity in a dose-dependent manner. The low but sustained expression of beta-galactocerebrosidase in oligodendrocytes is sufficient to improve the morphology of the differentiated cells. The in vitro approach provides the basis for further investigation of ribosomal read-through as an alternative therapeutic strategy to ameliorate the quality of life in selected Krabbe's disease patients	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
W339X	the twitcher mouse is a naturally occurring model of Krabbe's disease, containing in beta-galactocerebrosidase a premature stop codon, W339X	Mus musculus

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P54803	-	-
Mus musculus	P54818	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	from patients bearing nonsense mutations	Homo sapiens	-

General Information

General Information	Comment	Organism
malfunction	Krabbe's disease is a degenerative lysosomal storage disease resulting from deficiency of bgalactocerebrosidase activity. Over 100 mutations are known to cause the disease, and these usually occur in compound heterozygote patterns. In affected patients, nonsense mutations leading to a nonfunctional enzyme are often found associated with other mutations	Homo sapiens
malfunction	Krabbe's disease is a degenerative lysosomal storage disease resulting from deficiency of galactocerebrosidase activity. Over 100 mutations are known to cause the disease, and these usually occur in compound heterozygote patterns. In affected patients, nonsense mutations leading to a nonfunctional enzyme are often found associated with other mutations	Mus musculus

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Release 2023.1 (January 2023)