Peroxisomes are subcellular organelles that play a central role in human physiology by
catalyzing a range of unique metabolic functions. The importance of peroxisomes for human …

Peroxisomes are dynamic organelles that play an essential role in a variety of cellular
catabolic and anabolic metabolic pathways, including fatty acid alpha-and beta-oxidation …

Peroxisome biogenesis disorders in the Zellweger spectrum (PBD-ZSD) are a
heterogeneous group of genetic disorders caused by mutations in PEX genes responsible …

Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal
biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical …

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting
enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel …

Peroxisomes are single-membrane organelles essential for cell metabolism including the β-
oxidation of fatty acids, synthesis of etherlipid plasmalogens, and redox homeostasis …

The VPS13 gene family consists of VPS13A–D in mammals. Although all four genes have
been linked to human diseases, their cellular functions are poorly understood, particularly …

Background Acyl-CoA binding domain containing protein 5 (ACBD5) is a peroxisomal
membrane protein with a cytosolic acyl-CoA binding domain. Because of its acyl-CoA …

Peroxisomes are single-membrane organelles present in eukaryotes. The functional
importance of peroxisomes in humans is represented by peroxisome-deficient peroxisome …

Inborn errors of metabolism (IEM) are not unlike common diseases. They often present as a
spectrum of disease phenotypes that correlates poorly with the severity of the disease …