The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can
be inherited or acquired, and result in defective keratinocyte differentiation and abnormal …

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 …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

Dermatology, edited by world authorities Jean L. Bolognia, MD, Joseph L. Jorizzo, MD, and
Julie V. Schaffer, MD, is an all-encompassing medical reference book that puts the latest …

Fe (II)/α-ketoglutarate (αKG)-dependent hydroxylases catalyze an amazing diversity of
reactions that result in protein side-chain modifications, repair of alkylated DNA/RNA …

Amyotrophic lateral sclerosis (ALS) is a paralytic disorder caused by motor neuron
degeneration. Mutations in more than 50 human genes cause diverse types of motor neuron …

The third edition retains the highly detailed, authoritative quality of the previous editions to
present in-depth knowledge of fatty acids in food and food products and reveal diverse …

Translocation of proteins across membranes of the endoplasmic reticulum, mitochondrion,
and chloroplast has been shown to be mediated by targeting signals present in the …

Covering: up to 2018 α-Ketoglutarate (αKG, also known as 2-oxoglutarate)-dependent
mononuclear non-haem iron (αKG-NHFe) enzymes catalyze a wide range of biochemical …

Peroxisomes contain numerous enzymatic activities that are important for mammalian
physiology. Patients lacking either all peroxisomal functions or a single enzyme or …