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 | 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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P54803 | - |
- |
Mus musculus | P54818 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
fibroblast | from patients bearing nonsense mutations | Homo sapiens | - |
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 |