Search references for NPC1. Phrases containing NPC1
See searches and references containing NPC1!NPC1
Protein-coding gene in Humans
type C1 (NPC1) is a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans the protein is encoded by the NPC1 gene (chromosome
NPC1
Medical condition
Alzheimer's") is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick type C affects an estimated 1:150,000 people
Niemann–Pick_disease_type_C
Virus responsible for hemorrhagic fever
that Ebola virus cell entry and replication requires NPC1. When cells from patients lacking NPC1 were exposed to Ebola virus in the laboratory, the cells
Marburg_virus
Species of virus affecting humans and animals
infection by preventing viral envelope glycoprotein (GP) from binding to NPC1. Hence, NPC1 was shown to be critical to entry of this filovirus, because it mediates
Zaire_ebolavirus
Medical condition
sphingomyelinase, that breaks down the lipid sphingomyelin. Mutations in NPC1 or NPC2 cause Niemann–Pick disease, type C (NPC), which affects a protein
Niemann–Pick_disease
Chemical compound
pharmaceutical drug that inhibits cholesterol absorption. It targets the NPC1-like intracellular cholesterol transporter 1. It reduces plasma levels of
Hyzetimibe
Group of transport proteins in vertebrates
cell via receptor mediated endocytosis. NPC2 works cooperatively with the NPC1 protein to facilitate the exportation of LDL-derived cholesterol out of the
Epididymal secretory protein E1
Epididymal_secretory_protein_E1
Protein-coding gene in the species Homo sapiens
TMEM97 only in 2017. TMEM97 was shown to regulate the cholesterol transporter NPC1 and to be involved in cholesterol homeostasis. The sigma-2 receptor is a
Sigma-2_receptor
Monoclonal antibody medication
receptor protein, Niemann-Pick C1 (NPC1). This "competition" by ansuvimab prevents Ebola virus from binding to NPC1 and "neutralizes" the virus's ability
Ansuvimab
2013–2016 major disease outbreak
Hawkins, John A; Gifford, Robert J (23 December 2015). "Filovirus receptor NPC1 contributes to species-specific patterns of ebolavirus susceptibility in
Western African Ebola epidemic
Western_African_Ebola_epidemic
Topics referred to by the same term
progenitor cell; see Notch signaling pathway Niemann–Pick disease, type C NPC1, a protein involved in the disease NPC2, a protein involved in the disease
NPC
Species of virus
filoviruses. Like other filoviruses, Mengla virus utilizes the Niemann-Pick C1 (NPC1) receptor for cell entry, a trait that may facilitate cross-species transmission
Mengla_dianlovirus
Genus of virus
endosomes, Ebola virus binds the intracellular receptor Neimann-Pick C1 (NPC1) and the viral membrane fuses with the endosomal membrane, allowing the virus
Ebolavirus
Metabolic disorders affecting a cell's lysosomes
deficiency Sphingolipid activator proteins Niemann–Pick disease, type C1 NPC1 Salla disease Sialin Unless else specified in boxes, then the applicable
Lysosomal_storage_disease
Neurofibromatosis type II NF2 (22q12.2) Niemann–Pick disease SMPD1, NPA, NPB, NPC1, NPC2 1:250,000 (types A and B) 1:150,000 (type C) Nonketotic hyperglycinemia
List_of_genetic_disorders
involved in the last step of cholesterol biosynthesis. Niemann-Pick type C1 (NPC1), involved in intracellular cholesterol transport. Niemann-Pick type C1-like
Sterol-sensing_domain
Neuromyelitis optica NMS Neuroleptic malignant syndrome NP Niemann–Pick disease NPC1 Niemann–Pick disease, type C1 NPD Narcissistic personality disorder NPH Normal
List of abbreviations for diseases and disorders
List_of_abbreviations_for_diseases_and_disorders
Pharmaceutical drug
suggests vorinostat can be a therapeutic tool for Niemann-Pick type C1 (NPC1), a rare lysosomal lipid storage disease. Preclinical experiments by University
Vorinostat
Embryonic signaling pathway for proper cell differentiation
controlled by PTCH. PTCH1 has homology to Niemann-Pick disease, type C1 (NPC1) that is known to transport lipophilic molecules across a membrane. PTCH1
Hedgehog_signaling_pathway
Protein-coding gene in the species Homo sapiens
HAVCR1, but true entry into the cytosol is achieved through fusion with NPC1. It has also been shown that non-exosomal HAV (encapsidated) infection occurs
HAVCR1
Species of virus
glycoprotein interacts with the intracellular entry receptor, Niemann-Pick C1 (NPC1). The virus RdRp would partially uncoat the nucleocapsid and transcribe the
Lloviu_virus
American science documentary television series
relies on a membrane transport protein called NPC1 to infect cells. Human and bat cells both contain NPC1 transporter proteins in their cells. People infected
Through_the_Wormhole
Human chromosome
Gamma-soluble NSF attachment protein NOL4: encoding protein Nucleolar protein 4 NPC1: Niemann-Pick disease, type C1 PIGN: encoding protein Phosphatidylinositol
Chromosome_18
Enzyme that hydrolyzes sphingomyelin
lysosomal storage disorder, but instead is caused by a mutation in either the NPC1 or NPC2 gene. Despite having a functional SMPD1 gene, NPC fibroblasts were
Acid_sphingomyelinase
Mammalian protein found in Homo sapiens
significantly downregulated in a mouse model carrying the same mutation in the NPC1 protein that is underlying Niemann-Pick type C1 disease, a neurodegenerative
Myelin_regulatory_factor
Relation between obesity and genetic factors
body where this fat is stored. SH2B1 16p11.2 MTCH2 11p11.2 PCSK1 5q15-q21 NPC1 18q11-q12 LYPLAL1 616548 1q41 Disputed metabolic function of being either
Genetics_of_obesity
"Sterols and intracellular vesicular trafficking: lessons from the study of NPC1". Steroids. 67 (12): 947–51. doi:10.1016/s0039-128x(02)00042-9. PMID 12398991
Star related lipid transfer domain containing 3
Star_related_lipid_transfer_domain_containing_3
Mammalian protein found in Homo sapiens
Overview of all the structural information available in the PDB for UniProt: Q9UHC9 (Human NPC1-like intracellular cholesterol transporter 1) at the PDBe-KB.
NPC1L1
Protein-coding gene in the species Homo sapiens
18q11.2 which contains 24 exons. TMEM241 is located near CABLES1, RIOK3, and NPC1 on chromosome 18. The primary mRNA for human TMEM241, isoform 1, contains
TMEM241
Family of membrane transport proteins
Ca2+/H+ exchangers (TMEM165(SLC64A1)) NPC-type cholesterol transporters (NPC1(SLC65A1), NPC1L1(SLC65A2)) Cationic amino acid exporters (SLC66A1, SLC66A2
Solute_carrier_family
British biochemist
J.; Futter, C. E.; Spiegel, S.; Platt, F. M.; Eden, E. R. (2019-09-19). "NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress"
Frances_Platt
dietary cholesterol absorption in the intestine by acting downstream of NPC1-L1. More recently in 2023, Tontonoz identified CLSTN3β as a novel ER-lipid
Peter_Tontonoz
Q8NG41 10703 NPBWR1 HGNC:4522; P48145 10704 NPBWR2 HGNC:4530; P48146 10705 NPC1 HGNC:7897; O15118 10706 NPC1L1 HGNC:7898; Q9UHC9 10707 NPC2 HGNC:14537; P61916
List of human protein-coding genes 5
List_of_human_protein-coding_genes_5
Protein-coding gene in humans
"Cholesterol accumulation sequesters Rab9 and disrupts late endosome function in NPC1-deficient cells". J. Biol. Chem. 281 (26): 17890–9. doi:10.1074/jbc.M601679200
RAB9A
Niemann–Pick disease, type C1; 257220; NPC1 Niemann–Pick disease, type C2; 607625; NPC2 Niemann–Pick disease type D; 257220; NPC1 Night blindness, congenital stationary
List_of_OMIM_disorder_codes
British-Canadian biochemist
neurons lacking the protein associated with Niemann–Pick disease type C, NPC1, and found that these defects can be addressed by treatment with cyclodextrin
Jean_Vance
Protein-coding gene in the species Homo sapiens
evidence shows potential interaction between C15orf32 and PKD2, ALG9, DISP1, NPC1, FZD2, FAM69A, ATP6V1G2, ASIC1, DPY19L4, SPPL2B, and HGSNAT. Variants of
Uncharacterized protein C15orf32
Uncharacterized_protein_C15orf32
NPC1
NPC1
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NPC1
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NPC1