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Niemann-Pick Disease, Type C1 产品

(Niemann-Pick Disease, Type C1 (NPC1))
This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009].

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Featured Niemann-Pick Disease, Type C1 Categories

Niemann-Pick Disease, Type C1 抗体

High quality antibodies with extensive validation data.

Niemann-Pick Disease, Type C1 ELISA试剂盒

Reliable ELISA kits for a wide range of species.

Niemann-Pick Disease, Type C1 蛋白

Proteins for various applications incl. WB, ELISA, IF etc.

Recommended Niemann-Pick Disease, Type C1 抗体

Product
Reactivity
Application
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human
Application ELISA, WB, IHC, FACS
Validations
  • (2)
  • (6)
Cat. No. ABIN1724840
Quantity 0.1 mg
Datasheet Datasheet
Reactivity Human
Application WB, IHC, IF
Validations
  • (7)
Cat. No. ABIN7268911
Quantity 100 μL
Datasheet Datasheet
Reactivity Human
Application ELISA, WB, IHC
Validations
  • (2)
  • (5)
Cat. No. ABIN1724876
Quantity 0.1 mg
Datasheet Datasheet

Recommended Niemann-Pick Disease, Type C1 ELISA试剂盒

Product
Reactivity
Analytical Method
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human
Analytical Method Quantitative Sandwich ELISA
Validations
  • (1)
Cat. No. ABIN6958195
Quantity 96 tests
Datasheet Datasheet
Reactivity Sheep
Analytical Method Quantitative
Validations
Cat. No. ABIN1056424
Quantity 96 tests
Datasheet Datasheet
Reactivity Monkey
Analytical Method Quantitative
Validations
Cat. No. ABIN1056423
Quantity 96 tests
Datasheet Datasheet

Recommended Niemann-Pick Disease, Type C1 蛋白

Product
Reactivity
Source
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human
Source Wheat germ
Validations
  • (1)
Cat. No. ABIN1312849
Quantity 10 μg
Datasheet Datasheet
Reactivity Human
Source HEK-293 Cells
Validations
  • (1)
Cat. No. ABIN7317151
Quantity 100 μg
Datasheet Datasheet
Reactivity Human
Source Escherichia coli (E. coli)
Validations
  • (1)
Cat. No. ABIN3094184
Quantity 1 mg
Datasheet Datasheet

Latest Publications for our Niemann-Pick Disease, Type C1 Products

Ferrante, De Nuccio, Pepponi, Visentin, Martire, Bernardo, Minghetti, Popoli: "Stimulation of adenosine A2A receptors reduces intracellular cholesterol accumulation and rescues mitochondrial abnormalities in human neural cell models of Niemann-Pick C1." in: Neuropharmacology, Vol. 103, pp. 155-62, (2016) (PubMed).

Ebrahimi-Fakhari, Wahlster, Bartz, Werenbeck-Ueding, Praggastis, Zhang, Joggerst-Thomalla, Theiss, Grimm, Ory, Runz: "Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells." in: Human molecular genetics, (2016) (PubMed).

Li, Deffieu, Lee, Saha, Pfeffer: "Glycosylation inhibition reduces cholesterol accumulation in NPC1 protein-deficient cells." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 112, Issue 48, pp. 14876-81, (2015) (PubMed).

Maetzel, Sarkar, Wang, Abi-Mosleh, Xu, Cheng, Gao, Mitalipova, Jaenisch: "Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick Type C patient-specific iPS cells." in: Stem cell reports, Vol. 2, Issue 6, pp. 866-80, (2014) (PubMed).

Armstrong, Mattsson, Appelqvist, Janefjord, Sandin, Agholme, Olsson, Svensson, Blennow, Zetterberg, Kågedal: "Lysosomal network proteins as potential novel CSF biomarkers for Alzheimer's disease." in: Neuromolecular medicine, Vol. 16, Issue 1, pp. 150-60, (2014) (PubMed).

Zampieri, Bembi, Rosso, Filocamo, Dardis: "Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking." in: JIMD reports, Vol. 2, pp. 59-69, (2013) (PubMed).

Ohgane, Karaki, Dodo, Hashimoto: "Discovery of oxysterol-derived pharmacological chaperones for NPC1: implication for the existence of second sterol-binding site." in: Chemistry & biology, Vol. 20, Issue 3, pp. 391-402, (2013) (PubMed).

Fu, Wassif, Yanjanin, Watkins-Chow, Baxter, Incao, Liscum, Sidhu, Firnkes, Graham, Ory, Porter, Pavan: "Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1." in: Human molecular genetics, Vol. 22, Issue 17, pp. 3508-23, (2013) (PubMed).

Roszell, Tao, Yu, Gao, Huang, Ning, Feinstein, Vite, Bates: "Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease." in: PLoS ONE, Vol. 8, Issue 7, pp. e67084, (2013) (PubMed).

Cianciola, Greene, Morton, Carlin: "Adenovirus RIDα uncovers a novel pathway requiring ORP1L for lipid droplet formation independent of NPC1." in: Molecular biology of the cell, Vol. 24, Issue 21, pp. 3309-25, (2013) (PubMed).

Synonyms and alternative names related to Niemann-Pick Disease, Type C1

NPC intracellular cholesterol transporter 1 (NPC1), NPC1 like intracellular cholesterol transporter 1 (Npc1l1), NPC intracellular cholesterol transporter 1 (Npc1), Niemann-Pick disease, type C1 (npc1), Niemann-Pick C1 protein (LOC579887), 9130221N23Rik, A430089E03Rik, C85354, Cdig2, D18Ertd139e, D18Ertd723e, Gm243, im:7149020, lcsd, nmf164, NPC, spm, wu:fb53a12, wu:fc29a12

Protein level used designations for Niemann-Pick Disease, Type C1

  • Niemann-Pick C1 protein
  • Niemann-Pick C1-like protein 1
  • Niemann-Pick disease, type C1
  • Niemann-Pick disease, type C1-like 1
  • Niemann-Pick type C1 disease protein
  • Nasopharyngeal carcinoma 1
  • Niemann-Pick C1
  • sphingomyelinosis
  • Niemann-Pick C disease protein
  • Niemann Pick type C1
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