Adipose tissue remodeling: its role in energy metabolism and metabolic disorders
The adipose tissue is a central metabolic organ in the regulation of whole-body energy
homeostasis. The white adipose tissue functions as a key energy reservoir for other organs …
homeostasis. The white adipose tissue functions as a key energy reservoir for other organs …
Malformation syndromes caused by disorders of cholesterol synthesis
FD Porter, GE Herman - Journal of lipid research, 2011 - ASBMB
Cholesterol homeostasis is critical for normal growth and development. In addition to being
a major membrane lipid, cholesterol has multiple biological functions. These roles include …
a major membrane lipid, cholesterol has multiple biological functions. These roles include …
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
CA Wassif, JL Cross, J Iben, L Sanchez-Pulido… - Genetics in …, 2016 - nature.com
Purpose: Niemann-Pick disease type C (NPC) is a recessive, neurodegenerative, lysosomal
storage disease caused by mutations in either NPC1 or NPC2. The diagnosis is difficult and …
storage disease caused by mutations in either NPC1 or NPC2. The diagnosis is difficult and …
DHCR7: A vital enzyme switch between cholesterol and vitamin D production
The conversion of 7-dehydrocholesterol to cholesterol, the final step of cholesterol synthesis
in the Kandutsch-Russell pathway, is catalyzed by the enzyme 7-dehydrocholesterol …
in the Kandutsch-Russell pathway, is catalyzed by the enzyme 7-dehydrocholesterol …
[HTML][HTML] Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review
CDM van Karnebeek, S Stockler - Molecular genetics and metabolism, 2012 - Elsevier
BACKGROUND: Intellectual disability ('developmental delay'at age< 5years) affects 2.5% of
population worldwide. Recommendations to investigate genetic causes of intellectual …
population worldwide. Recommendations to investigate genetic causes of intellectual …
Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management
FD Porter - European Journal of Human Genetics, 2008 - nature.com
Abstract Smith–Lemli–Opitz syndrome (SLOS) is a malformation syndrome due to a
deficiency of 7-dehydrocholesterol reductase (DHCR7). DHCR7 primarily catalyzes the …
deficiency of 7-dehydrocholesterol reductase (DHCR7). DHCR7 primarily catalyzes the …
Cholesterol in myelin biogenesis and hypomyelinating disorders
G Saher, SK Stumpf - Biochimica Et Biophysica Acta (BBA)-Molecular and …, 2015 - Elsevier
The largest pool of free cholesterol in mammals resides in myelin membranes. Myelin
facilitates rapid saltatory impulse propagation by electrical insulation of axons. This function …
facilitates rapid saltatory impulse propagation by electrical insulation of axons. This function …
Cholesterol-mediated degradation of 7-dehydrocholesterol reductase switches the balance from cholesterol to vitamin D synthesis
Cholesterol is detrimental to human health in excess but is also essential for normal
embryogenesis. Hence, enzymes involved in its synthesis possess many layers of regulation …
embryogenesis. Hence, enzymes involved in its synthesis possess many layers of regulation …
Inborn errors of metabolism
CR Ferreira, CDM van Karnebeek - Handbook of clinical neurology, 2019 - Elsevier
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an
important group of conditions presenting with neurologic signs in newborns. They are …
important group of conditions presenting with neurologic signs in newborns. They are …
Statins and the brain: more than lipid lowering agents?
A Fracassi, M Marangoni, P Rosso… - Current …, 2019 - ingentaconnect.com
Background: Statins represent a class of medications widely prescribed to efficiently treat
dyslipidemia. These drugs inhibit 3-βhydroxy 3β-methylglutaryl Coenzyme A reductase …
dyslipidemia. These drugs inhibit 3-βhydroxy 3β-methylglutaryl Coenzyme A reductase …