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ProteomicsA fibroblast-specific genome-scale model focused on fatty acid alpha-oxidation
Refsum disease is an inborn error of metabolism that is characterized by a defect in peroxisomal α-oxidation of the branched-chain fatty acid phytanic acid. After clinical suspicion of this disorder, including progressive retinitis pigmentosa and polyneuropathy, Refsum disease is biochemically diagn...
ORGANISM(S): Homo sapiens (Human) 
2020-03-20 | PXD015518 | Pride
Refsum Model Human Fatty acid alpha-oxidation Fibroblasts 
GenomicsFibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease
Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease
PRJNA575696 | ENA
TranscriptomicsFibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease
In this study, we reconstructed a fibroblast-specific genome-scale model based on the recently published, FAD-curated model, based on Recon3D reconstruction. To constrain the model we used transcriptomics, and proteomics data, which we obtained from healthy controls and Refsum disease patient fibrob...
ORGANISM(S): Homo sapiens 
2020-03-21 | GSE138379 | GEO
UnknownIdentification of PEX7 as the second gene involved in Refsum disease.
Not available
S-EPMC379239 | biostudies-literature
UnknownInfantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.
Not available
S-EPMC4864718 | biostudies-literature
UnknownPregnancy outcome in Refsum disease: Affected fetuses and children born to an affected mother.
Not available
S-EPMC6498833 | biostudies-literature
UnknownFibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum disease.
Not available
S-EPMC7754141 | biostudies-literature
UnknownImmunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated protein.
Not available
S-EPMC26744 | biostudies-literature
UnknownUltrastructure of skin from Refsum disease with emphasis on epidermal lamellar bodies and stratum corneum barrier lipid organization.
Not available
S-EPMC4169723 | biostudies-literature
UnknownPHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.
Not available
S-EPMC10910431 | biostudies-literature
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