| Apolipoprotein A-I Binding Protein Inhibits the Formation of Infantile Hemangioma through Cholesterol-Regulated Hypoxia-Inducible Factor 1alpha Activation. | Apolipoprotein A-I Binding Protein Inhibits the Formation of Infantile Hemangioma through Cholesterol-Regulated Hypoxia-Inducible Factor 1α Activation.
Jiang Y, Li X, Liu Q, Lei G, Wu C, Chen L, Zhao Y, Hu Y, Xian H, Mao R. | 02/26/2024 |
| Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children. | Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children.
Rao SS, Bhavani GS, Jalan AB, Shenoy RD. | 01/26/2024 |
| Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation. | Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
Maalej M, Sfaihi L, Ammar M, Frikha F, Kharrat M, Alila-Fersi O, Mkaouar-Rebai E, Tlili A, Kammoun T, Fakhfakh F. | 11/19/2022 |
| A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy. | A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy.
Mohammadi P, Heidari M, Ashrafi MR, Mahdieh N, Garshasbi M. | 10/29/2022 |
| Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child. | Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child.
Incecık F, Ceylaner S. | 11/13/2021 |
| NAD(P)HX epimerase downregulation promotes tumor progression through ROS/HIF-1alpha signaling in hepatocellular carcinoma. | NAD(P)HX epimerase downregulation promotes tumor progression through ROS/HIF-1α signaling in hepatocellular carcinoma.
Sun B, Yu L, Xu C, Li YM, Zhao YR, Cao MM, Yang LY., Free PMC Article | 07/10/2021 |
| Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes. | Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Lee JS, Yoo T, Lee M, Lee Y, Jeon E, Kim SY, Lim BC, Kim KJ, Choi M, Chae JH. | 06/5/2021 |
| Cholesterol Efflux-Independent Modification of Lipid Rafts by AIBP (Apolipoprotein A-I Binding Protein). | Cholesterol Efflux-Independent Modification of Lipid Rafts by AIBP (Apolipoprotein A-I Binding Protein).
Low H, Mukhamedova N, Capettini LDSA, Xia Y, Carmichael I, Cody SH, Huynh K, Ditiatkovski M, Ohkawa R, Bukrinsky M, Meikle PJ, Choi SH, Field S, Miller YI, Sviridov D., Free PMC Article | 11/28/2020 |
| Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment. | Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.
Trinh J, Imhoff S, Dulovic-Mahlow M, Kandaswamy KK, Tadic V, Schäfer J, Dobricic V, Nolte A, Werber M, Rolfs A, Münchau A, Klein C, Lohmann K, Brüggemann N. | 11/28/2020 |
| Study finds that AIBP was expressed in inflammatory cells in the human lung. In vitro, AIBP in the presence of surfactant reduced LPS-induced p65, ERK1/2 and p38 phosphorylation, and IL-6 secretion by alveolar macrophages. These results suggest that lung injury increases pulmonary AIBP expression, which likely serves to promote cholesterol efflux to surfactant and reduce inflammation. | AIBP augments cholesterol efflux from alveolar macrophages to surfactant and reduces acute lung inflammation.
Choi SH, Wallace AM, Schneider DA, Burg E, Kim J, Alekseeva E, Ubags ND, Cool CD, Fang L, Suratt BT, Miller YI., Free PMC Article | 12/14/2019 |
| These results suggest that AIBP inhibits inflammatory signaling pathways through binding to apoA-1 and stabilizing ABCA1, and subsequent alteration of lipid rafts and TLR4 in the cell membrane. | Apolipoprotein A-1 Binding Protein Inhibits Inflammatory Signaling Pathways by Binding to Apolipoprotein A-1 in THP-1 Macrophages.
Zhang M, Zhao GJ, Yin K, Xia XD, Gong D, Zhao ZW, Chen LY, Zheng XL, Tang XE, Tang CK. | 08/17/2019 |
| These results provide circumstantial evidence that the epimerase has a metabolic function beyond NAD(P)HX repair and that this function involves vitamin B6. | Evidence that the metabolite repair enzyme NAD(P)HX epimerase has a moonlighting function.
Niehaus TD, Elbadawi-Sidhu M, Huang L, Prunetti L, Gregory JF 3rd, de Crécy-Lagard V, Fiehn O, Hanson AD., Free PMC Article | 03/16/2019 |
| NAXE gene mutations are associated with early-onset progressive encephalopathy. | [Clinical and genetic features of early-onset progressive encephalopathy associated with NAXE gene mutations].
Yu D, Zhao FM, Cai XT, Zhou H, Cheng Y., Free PMC Article | 12/22/2018 |
| Study shows a homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.This is the first report of a defect in the nicotinamide nucleotide repair system in humans. | Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.
Spiegel R, Shaag A, Shalev S, Elpeleg O. | 02/10/2018 |
| NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood | NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H., Free PMC Article | 05/27/2017 |
| AIBp contributes to mitotic entry and bipolar spindle assembly. | AIBp regulates mitotic entry and mitotic spindle assembly by controlling activation of both Aurora-A and Plk1.
Chou CH, Loh JK, Yang MC, Lin CC, Hong MC, Cho CL, Chou AK, Wang CH, Lieu AS, Howng SL, Hsu CM, Hong YR., Free PMC Article | 06/28/2016 |
| AIBP accelerates cholesterol efflux from endothelial cells to HDL and thereby regulates angiogenesis | Control of angiogenesis by AIBP-mediated cholesterol efflux.
Fang L, Choi SH, Baek JS, Liu C, Almazan F, Ulrich F, Wiesner P, Taleb A, Deer E, Pattison J, Torres-Vázquez J, Li AC, Miller YI., Free PMC Article | 06/29/2013 |
| A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
Martins-de-Souza D, Guest PC, Mann DM, Roeber S, Rahmoune H, Bauder C, Kretzschmar H, Volk B, Baborie A, Bahn S. | 04/26/2012 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart disease.
Peloso GM, Demissie S, Collins D, Mirel DB, Gabriel SB, Cupples LA, Robins SJ, Schaefer EJ, Brousseau ME. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC. | 09/15/2010 |
| Taken together, the current study demonstrates that APN might protect against atherosclerosis by increasing HDL assembly through enhancing ABCA1 pathway and apoA-1 synthesis in the liver. | Adiponectin accelerates reverse cholesterol transport by increasing high density lipoprotein assembly in the liver.
Matsuura F, Oku H, Koseki M, Sandoval JC, Yuasa-Kawase M, Tsubakio-Yamamoto K, Masuda D, Maeda N, Tsujii K, Ishigami M, Nishida M, Hirano K, Kihara S, Hori M, Shimomura I, Yamashita S. | 01/21/2010 |