2016
DOI: 10.1136/jmedgenet-2016-104132
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ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

Abstract: Our investigations strongly suggest that ACBD5 plays an important role in sequestering C26-CoA in the cytosol and thereby facilitates transport into the peroxisome and subsequent β-oxidation. Accordingly, ACBD5 deficiency is a novel single peroxisomal enzyme deficiency caused by impaired VLCFA metabolism, leading to retinal dystrophy and white matter disease.

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Cited by 99 publications
(118 citation statements)
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References 25 publications
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“…Plasmalogens synthesis (a subcategory of PL) involve several compartments: not only peroxisomes but also the endoplasmic reticulum (ER). As an example, ACBD5 deficiency disrupts lipid transfer between the ER and the peroximes and produces decreased synthesis of plasmalogens associated with a progressive leukodystrophy with ataxia and retinal distrophy …”
Section: Classificationmentioning
confidence: 99%
See 1 more Smart Citation
“…Plasmalogens synthesis (a subcategory of PL) involve several compartments: not only peroxisomes but also the endoplasmic reticulum (ER). As an example, ACBD5 deficiency disrupts lipid transfer between the ER and the peroximes and produces decreased synthesis of plasmalogens associated with a progressive leukodystrophy with ataxia and retinal distrophy …”
Section: Classificationmentioning
confidence: 99%
“…As an example, ACBD5 deficiency disrupts lipid transfer between the ER and the peroximes and produces decreased synthesis of plasmalogens associated with a progressive leukodystrophy with ataxia and retinal distrophy. 51 Diagnosis is first performed using blood tests measuring VLCFA, phytanic, pristanic and pipecolic acids in plasma, and plasmalogens from erythrocytes. Non-mitochondrial FA homeostasis defects share many similarities with Sjogren-Larsson syndrome or deficiencies in Elongase ELOV1, 4 and 5.…”
Section: Deficiency Of Complex Moleculesmentioning
confidence: 99%
“…It is becoming evident that MCSs are central to normal cell physiology. Moreover, several MCS proteins have been linked to various diseases …”
Section: Introductionmentioning
confidence: 99%
“…The Acyl-CoA binding domain containing protein5 (ACBD5) is a human orthologue of Atg35 and is also associated with pexophagy [186,102]. A pathogenic patient mutation in ACBD5 is associated with impaired fatty acid metabolism with retinal dystrophy and white matter disease [102].…”
Section: Pexophagymentioning
confidence: 99%