The endoplasmic reticulum (ER), which occupies a large portion of the cytoplasm, is the
cell's main site for the biosynthesis of lipids and carbohydrate conjugates, and it is essential …

Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have
various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial …

Acyl-CoA binding domain-containing proteins (ACBDs) perform diverse but often
uncharacterised functions linked to cellular lipid metabolism. Human ACBD4 and ACBD5 …

The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed,
plays a role in the acylation of lipids and proteins and regulates the N-myristoylation of …

Peroxisomes and the endoplasmic reticulum (ER) are intimately linked subcellular
organelles, physically connected at membrane contact sites. While collaborating in lipid …

Peroxisomes are highly dynamic and responsive organelles, which can adjust their
morphology, number, intracellular position, and metabolic functions according to cellular …

Acyl‐CoA‐binding domain‐containing protein 5‐related retinal dystrophy with
leukodystrophy (ACBD5) is a peroxisomal disorder due to deficiency of ACBD5. Presenting …

Acyl-CoA binding domain containing 5 (ACBD5) is a critical player in handling very long
chain fatty acids (VLCFA) en route for peroxisomal β-oxidation. Mutations in ACBD5 lead to …

Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous
synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources …

Abstract Introduction: Acyl-CoA binding domain containing 5 (ACBD5) deficiency is a newly
defined inborn peroxisomal disorder with only 7 patients reported to date. Herein, we report …