Transcriptomics

Dataset Information

3

Expression data from Amacr knock-out mouse liver and intestine


ABSTRACT: This SuperSeries is composed of the SubSeries listed below. Refer to individual Series

ORGANISM(S): Mus musculus  

SUBMITTER: Kaija J Autio  

PROVIDER: E-GEOD-40125 | ArrayExpress | 2015-12-22

SECONDARY ACCESSION(S): GSE40125PRJNA172864

REPOSITORIES: GEO, ArrayExpress

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Publications

Phytol is lethal for Amacr-deficient mice.

Selkälä Eija M EM   Nair Remya R RR   Schmitz Werner W   Kvist Ari-Pekka AP   Baes Myriam M   Hiltunen J Kalervo JK   Autio Kaija J KJ  

Biochimica et biophysica acta 20150804 10


α-Methylacyl-CoA racemase (Amacr) catalyzes the racemization of the 25-methyl group in C27-intermediates in bile acid synthesis and in methyl-branched fatty acids such as pristanic acid, a metabolite derived from phytol. Consequently, patients with Amacr deficiency accumulate C27-bile acid intermediates, pristanic and phytanic acid and display sensorimotor neuropathy, seizures and relapsing encephalopathy. In contrast to humans, Amacr-deficient mice are clinically symptomless on a standard labor  ...[more]

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