Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis

Aberrant dolichol chain lengths as biomarkers for retinitis pigmentosa caused by impaired dolichol biosynthesis

We observed a characteristic shortening of plasma and urinary dolichols in retinitis pigmentosa (RP) patients carrying K42E and T206A mutations in the dehydrodolichol diphosphate synthase (DHDDS) gene, using liquid chromatography-mass spectrometry. Dolichol-18 (D18) became the dominant dolichol spec...

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Bibliographic Details
Main Authors: Rong Wen, Byron L. Lam, Ziqiang Guan
Format: Article
Language:English
Published: Elsevier 2013-12-01
Series:Journal of Lipid Research
Subjects:
dehydrodolichol diphosphate synthase
autosomal recessive
dolichol-18:dolichol-19 ratio
mass spectrometry
human blood
human urine
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520357023

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http://www.sciencedirect.com/science/article/pii/S0022227520357023

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