7-DHC |
7-dehydrocholesterol |
24-S-OH |
24-S hydroxycholestero |
AD |
Alzheimer’s disease |
ASD |
Autism Spectrum Disorder |
ABCA1 |
ATP binding cassette 1 protein |
CNS |
Central Nervous system |
CDKL5 |
Cyclin-dependent kinase-like 5 |
CYP46A1 |
Cholesterol 24-hydroxylase |
DHCR7 |
17-Dehydrocholesterol reductase |
ER |
Endoplasmic reticulum |
HDL |
High Density Lipoprotein |
HD |
Huntington’s disease |
HMG-CoA |
3-hydroxy-3-methylglutaryl Coenzyme A |
HMGCR |
3-hydroxy-3-methylglutaryl Coenzyme A reductase |
HTT |
Huntingtin |
LDL |
Low density lipoprotein |
LDLR |
Low density lipoprotein receptor |
LRP1 |
LDLR related protein |
MeCP2 |
Methyl CpG binding protein 2 |
MVA |
Mevalonate |
NPC |
Niemann-Pick type C |
PCSK9 |
Proprotein Convertase Subtilisin/Kexin type 9 |
RTT |
Rett syndrome |
SLOS |
Smith–Lemli–Opitz syndrome |
SQLE |
Squalene epoxidase |
SR-B1 |
Scavenger Receptor class B type 1 |
SREBP2 |
Sterol Regulatory Element Binding Protein 2 |
VPA |
Valproic acid |