TY - JOUR
T1 - Human disorders of peroxisome metabolism and biogenesis
AU - Waterham, Hans R.
AU - Ferdinandusse, Sacha
AU - Wanders, Ronald J. A.
PY - 2016
Y1 - 2016
N2 - 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, and plasmalogen and bile acid synthesis. Defects in genes encoding peroxisomal proteins can result in a large variety of peroxisomal disorders either affecting specific metabolic pathways, i.e., the single peroxisomal enzyme deficiencies, or causing a generalized defect in function and assembly of peroxisomes, i.e., peroxisome biogenesis disorders. In this review, we discuss the clinical, biochemical, and genetic aspects of all human peroxisomal disorders currently known
AB - 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, and plasmalogen and bile acid synthesis. Defects in genes encoding peroxisomal proteins can result in a large variety of peroxisomal disorders either affecting specific metabolic pathways, i.e., the single peroxisomal enzyme deficiencies, or causing a generalized defect in function and assembly of peroxisomes, i.e., peroxisome biogenesis disorders. In this review, we discuss the clinical, biochemical, and genetic aspects of all human peroxisomal disorders currently known
U2 - https://doi.org/10.1016/j.bbamcr.2015.11.015
DO - https://doi.org/10.1016/j.bbamcr.2015.11.015
M3 - Article
C2 - 26611709
SN - 0167-4889
VL - 1863
SP - 922
EP - 933
JO - BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
JF - BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
IS - 5
ER -