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Results 1 - 10 of 47 > >>
EC Number
Amino acid exchange
Commentary
Reference
A179T
loss-of-function allele
A179T
loss-of-function allele, although endocytosis and endo-lysosomal trafficking does occur in Ppt1 mutant garland cells, there is a reduced level of uptake and a decreased rate of trafficking to the lysosomes
A179T
loss-of-function mutant, shows an increased frequency of mini excitatory junctional potentials, defects in vesicle cycling during and following repetitive stimulation, and a decreased rate of fluorescent endocytic tracer FM1-43 endocytosis
C6S
the activity of the non-palmitoylatable mutant significantly surpasses that of the wild type enzyme by more than 42% in the cell lysate and 25% in the cell medium
D233N
site-directed mutagenesis, inactive mutant
D79G
naturally occurring mutation, recombinant enzyme shows 32.8% of the wild-type activity, mutation is associated with the juvenile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor
D79G
site-directed mutagenesis, highly reduced activity
E184K
naturally occurring mutation, recombinant enzyme is nearly inactive showing an activity below 2% of the wild-type activity, mutation is associated with the infantile form of neuronal ceroid lipofuscinosis, no binding of mannose 6-phosphate receptor
F84del
natural deletion mutation in gene ppt1, leading to enzyme deficiency and infantile progressive neurological defects
G118D
natural mutation in gene ppt1, leading to enzyme deficiency and infantile progressive neurological defects
Results 1 - 10 of 47 > >>