JCI - Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis

Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis

Khemissa Bejaoui, … , Walter M. Holleran, Kentaro Hanada

Published November 1, 2002
Citation Information: J Clin Invest. 2002;110(9):1301-1308. https://doi.org/10.1172/JCI16450.

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Metabolic labeling of lipids with radioactive serine in lymphoblastoid cells from HSN1 and healthy controls. Cells were incubated with L-[³H(G)]serine for 2.5 hours. Lipids were isolated by high-performance TLC as described in Methods. Lipid synthesis was expressed as counts per minute per milligram of protein. The mean values with SD from triplicate experiments are shown. *P < 0.01 vs. the healthy control levels. TSLs, total sphingolipids.

Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis

Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis

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