Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis
Khemissa Bejaoui, … , Walter M. Holleran, Kentaro Hanada
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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Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis

Abstract

Research Article

Authors

Khemissa Bejaoui, Yoshikazu Uchida, Satoshi Yasuda, Mengfatt Ho, Masahiro Nishijima, Robert H. Brown Jr., Walter M. Holleran, Kentaro Hanada

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Figure 1

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Comparison of SPT-specific activity between HSN1 patients and healthy co...
Comparison of SPT-specific activity between HSN1 patients and healthy controls. SPT activity was determined in microsomes isolated from lymphoblastoid cell lines of HSN1 patients (HSN1) and age- and gender-matched healthy controls (Cont). Each assay was performed in triplicate, and data are presented as means with SD. Cell line ID numbers correspond to those listed in Table 1.