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Results 1 - 7 of 7
EC Number
Amino acid exchange
Commentary
Reference
A175T
mutation is deleterious to the human enzyme
A175T
site-directed mutagenesis, naturally occuring missense mutation linked to animals with bovine spinal muscular atrophy. Protein exhibits no detectable in vitro catalytic activity, but the mutated gene complements the growth defect of a homologous yeast knock-out strain as well as the healthy variant
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cobstruction of a tsc10 knockout mutant strain, analysis of lipid and ceramide profiles compared to wild-type strain, quantitative real time RT-PCR expression analysis, phenotype, overview
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construction of an enzyme-deficient mutant by gene replacement, the mutant produces lower levels of inositolphosphorylceramides
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construction of the deletion mutant TscDELTA38p
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identification of Arabidopsis thaliana leaf ionomic mutant 7113, termed tsc10a-1. Double mutant progeny plants lacking both genes are not recovered from crosses of single tsc10A and tsc10B mutants. Plant 3-KDS reductase activity is reduced to 10% of wild-type levels in the loss-of-function tsc10a mutant, leading to an altered sphingolipid profile
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mutation of any of the three residues that constitute the catalytic triad of FVT1 do not completely inactivate the enzyme, as it is able to support growth of tsc10DELTA mutant cells at 26C, but not at 37C. Deletion of residues 4-26 from the FVT1-GFP protein abolishes ER localization
Results 1 - 7 of 7