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El diagnostico se realiza mediante biopsia de la piel y cultivo de fibroblastos, secuenciacion de ADN para la busqueda de mutaciones de NPC1 o NPC2 o deteccion de oxisteroles (29).
Most of its patients (95%) have mutations in the NPC1 gene (8).
Although SNPs were located on obesity-related genes, some of the genes also have a direct role in lipid metabolism including PPARG, FABP2, PLIN1, NPC1, ACSL5, and FAAH, suggesting relationships between genetics, adiposity, and plasma lipid profiles.
Niemann-Picktype C proteins NPC1 and NPC2 are critically important for unloading of cholesterol from LE.
 Human genes: HMGCR, 3-hydroxy-3-methylglutaryl-CoA reductase; LDLR, low density lipoprotein receptor; PCSK9, proprotein convertase subtilisin/kexin type 9; NPC1L1, NPC1 like intracellular cholesterol transporter 1; ABCG5, ATP Binding Cassette Subfamily G Member 5; ABCG8, ATP Binding Cassette Subfamily G Member 8.
Carstea announced the discovery of the NPC1 gene four years later.
Mice lacking the virus's accomplice, a protein called NPC1, are completely protected from Ebola infection, scientists report online May 26 in mBio.
Research on mice has shown that the virus can only gain entry to host cells by attaching to a specific protein, NPC1.
The Niemann-Pick C1 (NPC1) protein is a cholesterol transporter protein.
(2013) Discovery of oxysterol-derived pharmacological chaperones for NPC1: Implication for the existence of second sterol-binding site.
All children were assessed for the following polymorphisms: FTO (rs9939609: A/T, rs1421085: C/T, rs17817449: G/T, rs1121980: A/G), MC4R (rs17782313: C/T), INSIG2 (rs7566605: C/G), FASN (rs2229422: A/G), NPC1 (rs1805081: C/T), PTER (rs10508503: C/T), SIRT1 (rs7895833: A/G, rs1467568: A/G), MAF (rs1424233: C/T), and CD36 (rs3211867: A/C, rs3211883: A/T, rs1527483: A/G) via allelic discrimination with ABI 7900HT Fast Real-Time PCR System with SDS 2.1 software (Applied Biosystems, Foster City, CA, USA).
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