| Ezh2 is essential for the generation of functional yolk sac derived erythro-myeloid progenitors. | Ezh2 is essential for the generation of functional yolk sac derived erythro-myeloid progenitors.
Neo WH, Meng Y, Rodriguez-Meira A, Fadlullah MZH, Booth CAG, Azzoni E, Thongjuea S, de Bruijn MFTR, Jacobsen SEW, Mead AJ, Lacaud G., Free PMC Article | 01/8/2022 |
| these data demonstrate the benefit of a one-time intracisternal administration of AAVrh.10-mNpc2-HA as a life-long treatment for Niemann-Pick type C2 disease | Attenuation of the Niemann-Pick type C2 disease phenotype by intracisternal administration of an AAVrh.10 vector expressing Npc2.
Markmann S, J Christie-Reid J, Rosenberg JB, De BP, Kaminsky SM, Crystal RG, Sondhi D. | 02/2/2019 |
| accumulation of free cholesterol in late endosomes/lysosomes of Arf6 knockout mouse embryonic fibroblasts results from mistrafficking of Niemann-Pick type C protein | Arf6 controls retromer traffic and intracellular cholesterol distribution via a phosphoinositide-based mechanism.
Marquer C, Tian H, Yi J, Bastien J, Dall'Armi C, Yang-Klingler Y, Zhou B, Chan RB, Di Paolo G., Free PMC Article | 09/1/2018 |
| GARP complex contributes to intracellular cholesterol transport by targeting NPC2 to lysosomes in a CI-MPR-dependent manner. | The GARP Complex Is Involved in Intracellular Cholesterol Transport via Targeting NPC2 to Lysosomes.
Wei J, Zhang YY, Luo J, Wang JQ, Zhou YX, Miao HH, Shi XJ, Qu YX, Xu J, Li BL, Song BL. | 04/21/2018 |
| AAV9-mediated NPC1 delivery significantly promoted Purkinje cell survival, restored locomotor activity and coordination, and increased the lifespan of NPC1(-/-) mice. Our work suggests that AAV-based gene therapy is a promising means to treat NPC disease. | AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease.
Xie C, Gong XM, Luo J, Li BL, Song BL., Free PMC Article | 09/2/2017 |
| These findings show that NPC2 secreted by premalignant lung tumours suppresses immature macrophage-lineage cell recruitment to the microenvironment in a paracrine manner. | The cholesterol-binding protein NPC2 restrains recruitment of stromal macrophage-lineage cells to early-stage lung tumours.
Kamata T, Jin H, Giblett S, Patel B, Patel F, Foster C, Pritchard C., Free PMC Article | 06/4/2016 |
| Using the inhibitors of cathepsin enzymatic activity, it was found that cathepsins B and L regulate TNF-alpha production, the expression and secretion of NPC2 protein, and the mRNA levels of the genes involved in cholesterol trafficking in macrophages. | Involvement of cathepsins B and L in inflammation and cholesterol trafficking protein NPC2 secretion in macrophages.
Hannaford J, Guo H, Chen X., Free PMC Article | 03/29/2014 |
| Npc1 and npc2 deficiencies result in pulmonary abnormalities observed in human Niemann-Pick type C disease. | Pulmonary abnormalities in animal models due to Niemann-Pick type C1 (NPC1) or C2 (NPC2) disease.
Roszell BR, Tao JQ, Yu KJ, Gao L, Huang S, Ning Y, Feinstein SI, Vite CH, Bates SR., Free PMC Article | 01/25/2014 |
| This is the first report demonstrating that GNMT plays an important role in regulating cholesterol homeostasis via interaction with NPC2 | Glycine N-methyltransferase deficiency affects Niemann-Pick type C2 protein stability and regulates hepatic cholesterol homeostasis.
Liao YJ, Chen TL, Lee TS, Wang HA, Wang CK, Liao LY, Liu RS, Huang SF, Chen YM., Free PMC Article | 09/8/2012 |
| NPC1 and NPC2 proteins participate in endosomal/lysosomal processing of both sphingolipids and cholesterol | Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.
Zhou S, Davidson C, McGlynn R, Stephney G, Dobrenis K, Vanier MT, Walkley SU., Free PMC Article | 04/14/2012 |
| In liver, absence of either NPC1 or NPC2 resulted in similar alterations in the carbohydrate processing of the lysosomal protease, tripeptidyl peptidase I. | Loss of Niemann-Pick C1 or C2 protein results in similar biochemical changes suggesting that these proteins function in a common lysosomal pathway.
Dixit SS, Jadot M, Sohar I, Sleat DE, Stock AM, Lobel P., Free PMC Article | 02/25/2012 |
| The lack of fibronectin did not interfere with reconstruction of collagen fibril organization in response to liver injury. | A fibronectin-independent mechanism of collagen fibrillogenesis in adult liver remodeling.
Moriya K, Bae E, Honda K, Sakai K, Sakaguchi T, Tsujimoto I, Kamisoyama H, Keene DR, Sasaki T, Sakai T., Free PMC Article | 07/2/2011 |
| NPC2 is a positive regulator of biliary cholesterol secretion via stimulation of ABCG5/G8-mediated cholesterol transport. | NPC2 regulates biliary cholesterol secretion via stimulation of ABCG5/G8-mediated cholesterol transport.
Yamanashi Y, Takada T, Yoshikado T, Shoda J, Suzuki H. | 07/2/2011 |
| Studies showed that processing and export of sterol from the late E/L compartment was quantitatively different in mice lacking LAL, NPC2, or NPC1 function. | Quantitative role of LAL, NPC2, and NPC1 in lysosomal cholesterol processing defined by genetic and pharmacological manipulations.
Ramirez CM, Liu B, Aqul A, Taylor AM, Repa JJ, Turley SD, Dietschy JM., Free PMC Article | 06/25/2011 |
| NPC2 as a novel intracrine/autocrine factor that controls adipocyte differentiation and function | Somatic cell plasticity and Niemann-pick type C2 protein: adipocyte differentiation and function.
Csepeggi C, Jiang M, Frolov A., Free PMC Article | 10/23/2010 |
| Results suggest that NPC2 participates in the traffic of ovarian cholesterol required to provide the substrate for steroid synthesis and support follicle maturation, ovulation and luteinization. | Female infertility due to anovulation and defective steroidogenesis in NPC2 deficient mice.
Busso D, Oñate-Alvarado MJ, Balboa E, Zanlungo S, Moreno RD. | 07/12/2010 |
| deficiency of NPC1 (dNPC1a being its Drosophila homologue) leads to activation of an NPC1L1 (Drosophila homologue dNPC1b)-independent cholesterol uptake pathway | Do mammalian NPC1 and NPC2 play a role in intestinal cholesterol absorption?
Dixit SS, Sleat DE, Stock AM, Lobel P., Free PMC Article | 01/21/2010 |
| lysosomal targeting of NPC2 is strictly dependent on mannose 6-phosphate receptors in fibroblasts | Mannose 6-phosphate receptors, Niemann-Pick C2 protein, and lysosomal cholesterol accumulation.
Willenborg M, Schmidt CK, Braun P, Landgrebe J, von Figura K, Saftig P, Eskelinen EL. | 01/21/2010 |
| The isolation of late endocytic vesicles from mouse liver, and the metabolism of NPC1 and NPC2 in mice are reported. | NPC1 late endosomes contain elevated levels of non-esterified ('free') fatty acids and an abnormally glycosylated form of the NPC2 protein.
Chen FW, Gordon RE, Ioannou YA., Free PMC Article | 01/21/2010 |
| NPC2 protein has binding sites with a role in efficient secretion | The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels.
Ko DC, Binkley J, Sidow A, Scott MP., Free PMC Article | 01/21/2010 |
| NPC2 is secreted from the liver into bile and plasma, where it may have a functional role in cholesterol transport in normal and disease conditions. | NPC2 is expressed in human and murine liver and secreted into bile: potential implications for body cholesterol homeostasis.
Klein A, Amigo L, Retamal MJ, Morales MG, Miquel JF, Rigotti A, Zanlungo S. | 01/21/2010 |
| NPC2 protein plays a role in hematopoiesis at the physiologic bone marrow level of O(2). | Involvement of Niemann-Pick type C2 protein in hematopoiesis regulation.
Heo K, Jariwala U, Woo J, Zhan Y, Burke KA, Zhu L, Anderson WF, Zhao Y. | 01/21/2010 |
| NPC1 and NPC2 proteins function in concert to facilitate the intracellular transport of lipids from the lysosome to other cellular sites | Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport.
Sleat DE, Wiseman JA, El-Banna M, Price SM, Verot L, Shen MM, Tint GS, Vanier MT, Walkley SU, Lobel P., Free PMC Article | 01/21/2010 |
| NPC2 and the majority of sterols secreted from astrocytes are not released together and the secretion of neither sterols nor NPC2 requires NPC1 function | Secretion of sterols and the NPC2 protein from primary astrocytes.
Mutka AL, Lusa S, Linder MD, Jokitalo E, Kopra O, Jauhiainen M, Ikonen E. | 01/21/2010 |
| loading of endogenous and exogenous lipids and glycolipids onto CD1d is dependent on various small, soluble lipid transfer proteins present in the lysosome | The Niemann-Pick type C2 protein loads isoglobotrihexosylceramide onto CD1d molecules and contributes to the thymic selection of NKT cells.
Schrantz N, Sagiv Y, Liu Y, Savage PB, Bendelac A, Teyton L., Free PMC Article | 01/21/2010 |