In this review, we describe the current state of knowledge about the biochemistry of mammalian
peroxisomes, especially human peroxisomes. The identification and characterization of …

A century after the identification of a coenzymatic activity for NAD + , NAD + metabolism has
come into the spotlight again due to the potential therapeutic relevance of a set of enzymes …

Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is an
autosomal recessive disorder characterized by recurrent episodes of fever associated with …

Fatty acids (FAs) can be degraded via different mechanisms including α‐, β‐ and ω‐oxidation.
In humans, a range of different genetic diseases has been identified in which either …

Oxidation of fatty acids in mitochondria is a key physiological process in higher eukaryotes
including humans. The importance of the mitochondrial beta-oxidation system in humans is …

Over the years, the mitochondrial fatty acid β-oxidation (FAO) pathway has been characterised
at the biochemical level as well as the molecular biological level. FAO plays a pivotal role …

Carnitine is indispensable for energy metabolism, since it enables activated fatty acids to
enter the mitochondria, where they are broken down via β-oxidation. Carnitine is probably …

Study of monogenic mitochondrial cardiomyopathies may yield insights into mitochondrial
roles in cardiac development and disease. Here, we combined patient-derived and …

<p id="p001">We report on a newborn girl with microcephaly, abnormal brain development,
optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma …

Identification of genes that are dysregulated in association with prostate carcinogenesis can
provide disease markers and clues relevant to disease etiology. Of particular interest as …