Associated Papers
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
Bode H et al.
Human Molecular Genetics, 2016
The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations.
Beattie AE et al.
Biomed Research International, 2013
Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.
Bejaoui K et al.
The Journal of Clinical Investigation, 2002
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