keyword
MENU ▼
Read by QxMD icon Read
search

Ectonucleotide Pyrophosphatase/Phosphodiesterase 1

keyword
https://www.readbyqxmd.com/read/29141319/-homozygous-ectonucleotide-pyrophosphatase-phosphodiesterase-1-variants-in-a-girl-with-hypophosphatemic-rickets-and-literature-review
#1
Z Q Liu, X B Chen, F Y Song, K Gao, M F Qiu, Y Qian, M Du
Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" ...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28964717/enpp1-mutation-causes-recessive-cole-disease-by-altering-melanogenesis
#2
Marwa Chourabi, Mei Shan Liew, Shawn Lim, Dorra H'mida-Ben Brahim, Lobna Boussofara, Liang Dai, Pui Mun Wong, Jia Nee Foo, Badreddine Sriha, Kim Samirah Robinson, Simon Denil, John Ea Common, Ons Mamaï, Youcef Ben Khalifa, Mathieu Bollen, Jianjun Liu, Mohamed Denguezli, Carine Bonnard, Ali Saad, Bruno Reversade
Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. In this study we investigated eight patients affected with an overlapping genodermatosis following recessive inheritance. The patients presented with hypo- and hyper-pigmented macules over the body, resembling dyschromatosis universalis hereditaria in addition to punctuate palmoplantar keratosis. By homozygosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation in Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was identified in all patients...
September 27, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28951309/gender-differences-in-the-association-of-enpp1-polymorphisms-with-type-2-diabetes-in-a-chinese-population
#3
Lulin Chen, Yingfen Qin, Danyan Liang, Xinghuan Liang, Yaojie Liang, Li Li, Jing Xian, Lulu Zhang, Lei Tong, Hong Li, Haiying Zhang
BACKGROUND: Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) encodes the human plasma-cell membrane differentiation antigen-1, and ENPP1 variants have been shown to be associated with type 2 diabetes (T2D) and insulin resistance. In this study, we investigated the involvement of ENPP1 polymorphisms in T2D. METHODS: The association of the two polymorphisms of ENPP1 (rs7754586 and rs55725924) with T2D and diabetes-related quantitative traits was analyzed in Chinese samples containing 929 T2D patients and 1044 healthy individuals...
December 30, 2017: Gene
https://www.readbyqxmd.com/read/28887147/both-ligand-and-vdr-expression-levels-critically-determine-the-effect-of-1%C3%AE-25-dihydroxyvitamin-d3-on-osteoblast-differentiation
#4
Dongqing Yang, Paul H Anderson, Asiri R Wijenayaka, Kate R Barratt, Rahma Triliana, Catherine J M Stapledon, Hong Zhou, David M Findlay, Howard A Morris, Gerald J Atkins
Previous studies have shown that 1α,25-dihydroxyvitamin D3 (1,25D) through vitamin D receptor (VDR) signalling has both catabolic and anabolic effects on osteoblast differentiation. However, the mechanism of these differential effects by 1,25D is not fully understood. In this study, mice with three different genetic backgrounds, representing a normal VDR level (wild-type, WT), VDR over-expression specifically in mature osteoblasts (ObVDR-B6) and global VDR knockout (VDRKO), were utilised to generate primary osteoblast-like cultures to further elucidate the effects of 1,25D on osteoblast differentiation...
September 6, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28852989/biophysical-aspects-of-biomineralization
#5
REVIEW
Maytê Bolean, Ana M S Simão, Marina B Barioni, Bruno Z Favarin, Heitor G Sebinelli, Ekeveliny A Veschi, Tatiane A B Janku, Massimo Bottini, Marc F Hoylaerts, Rosangela Itri, José L Millán, Pietro Ciancaglini
During the process of endochondral bone formation, chondrocytes and osteoblasts mineralize their extracellular matrix (ECM) by promoting the synthesis of hydroxyapatite (HA) seed crystals in the sheltered interior of membrane-limited matrix vesicles (MVs). Several lipid and proteins present in the membrane of the MVs mediate the interactions of MVs with the ECM and regulate the initial mineral deposition and posterior propagation. Among the proteins of MV membranes, ion transporters control the availability of phosphate and calcium needed for initial HA deposition...
October 2017: Biophysical Reviews
https://www.readbyqxmd.com/read/28798354/enpp1-is-an-anti-aging-factor-that-regulates-klotho-under-phosphate-overload-conditions
#6
Ryuichi Watanabe, Nobuyuki Fujita, Yuiko Sato, Tami Kobayashi, Mayu Morita, Takatsugu Oike, Kana Miyamoto, Makoto Kuro-O, Toshimi Michigami, Seiji Fukumoto, Takashi Tsuji, Yoshiaki Toyama, Masaya Nakamura, Morio Matsumoto, Takeshi Miyamoto
Control of phosphate metabolism is crucial to regulate aging in mammals. Klotho is a well-known anti-aging factor that regulates phosphate metabolism: mice mutant or deficient in Klotho exhibit phenotypes resembling human aging. Here we show that ectonucleotide pyrophosphatase/phosphodiesterase 1 (Enpp1) is required for Klotho expression under phosphate overload conditions. Loss-of-function Enpp1 (ttw/ttw) mice under phosphate overload conditions exhibited phenotypes resembling human aging and Klotho mutants, such as short life span, arteriosclerosis and osteoporosis, with elevated serum 1,25(OH)2D3 levels...
August 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28767692/insulin-receptor-signaling-and-glucagon-like-peptide-1-effects-on-pancreatic-beta-cells
#7
Nunzia Caporarello, Cristina Parrino, Vincenzo Trischitta, Lucia Frittitta
Glucagon-like peptide-1 (GLP-1) is a potent gluco-incretin hormone, which plays a central role on pancreatic beta cell proliferation, survival and insulin secreting activity and whose analogs are used for treating hyperglycemia in type 2 diabetes mellitus. Notably, abnormal insulin signaling affects all the above-mentioned aspects on pancreatic beta cells. The aim of our study was to investigate whether the protective effects of GLP1-1 on beta cells are affected by altered insulin receptor signaling. To this end, several effects of GLP-1 were studied in INS-1E rat beta cells transfected either with an inhibitor of insulin receptor function (i...
2017: PloS One
https://www.readbyqxmd.com/read/28598038/biphasic-effect-of-atp-on-in-vitro-mineralization-of-dental-pulp-cells
#8
Oranuch Techatharatip, Nunthawan Nowwarote, Suthisa Taebunpakul, Prasit Pavasant
Dental pulp cells release adenosine triphosphate (ATP) in response to intrapulpal pressure and the amount released depends on the magnitude of the pressure. ATP regulates the differentiation of stem cells into adipocytes and osteoblasts. However, it is unknown whether extracellular ATP influences the stemness and osteogenic differentiation of stem cells from human exfoliated deciduous teeth (SHEDs). Therefore, this study investigated the effects of extracellular ATP at a low (0.1 µM) and high (10 µM) concentration on the stemness and osteogenic differentiation of SHEDs...
June 9, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28560445/genistein-and-menaquinone-4-treatment-induced-alterations-in-the-expression-of-mrnas-and-their-products-are-beneficial-to-osteoblastic-mc3t3-e1-cell-functions
#9
Midori Katsuyama, Masashi Demura, Hironobu Katsuyama, Hideji Tanii, Kiyofumi Saijoh
The aim of the present study was to determine the molecular basis of the beneficial effects of genistein and/or menaquinone‑4 (MK‑4) on bone quality. Initially, 1 µM genistein was applied to MC3T3‑E1 cells for 24 h and the upregulated mRNAs that were detected by microarray were selected for further examination by reverse transcription‑quantitative‑polymerase chain reaction. Among them, alterations were observed in the level of GATA‑binding protein 6 (GATA6), Notch gene homolog 2 (NOTCH2), Wnt family member 5A (WNT5A), bone γ‑carboxyglutamate protein (BGLAP), chondroadherin (CHAD), dipeptidyl peptidase 4 (DPP4), ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), alkaline phosphatase (ALP) 3 and ATPase phospholipid‑transporting 11A (ATP11A) in response to treatment with 0...
July 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28474020/characterization-of-the-structure-dynamics-and-allosteric-pathways-of-human-npp1-in-its-free-form-and-substrate-bound-complex-from-molecular-modeling
#10
Xavier Barbeau, Patrick Mathieu, Jean-François Paquin, Patrick Lagüe
The ectonucleotide phosphodiesterase/pyrophosphatase-1 (NPP1) is a type II transmembrane glycoprotein that regulates extracellular inorganic purine nucleotide and inorganic diphosphate levels through the hydrolysis of ATP into AMP and diphosphate. NPP1 is a promising drug target as it plays a role in several disorders. In the present work, we report the 3D structure modeling and extensive molecular dynamics simulations of NPP1-h, both in its free and ATP-bound forms. We identified the key residues involved in the binding of the ATP and the binding modes...
May 5, 2017: Molecular BioSystems
https://www.readbyqxmd.com/read/28170448/genome-wide-analysis-identifies-colonic-genes-differentially-associated-with-serum-leptin-and-insulin-concentrations-in-c57bl-6j-mice-fed-a-high-fat-diet
#11
Sung-Eun Kim, Jinsil Choo, Joon Yoon, Jae Ryang Chu, Yun Jung Bae, Seungyeoun Lee, Taesung Park, Mi-Kyung Sung
Obesity-induced chronic inflammation is known to increase the risk of ulcerative colitis, Crohn's disease, and colorectal cancer. Accumulating evidence suggests that leptin and insulin are key molecules linking obesity with diseases of the lower intestine. Here, we identified serum phenotype-associated genes in the colon of diet-induced obese mice as early biomarkers of obesity-associated colonic diseases. C57BL/6J mice were fed with either normal diet (ND, 15% of fat calories) or high-fat diet (HFD, 45% of fat calories) for 8 weeks...
2017: PloS One
https://www.readbyqxmd.com/read/27888146/a-rhodium-iii-based-inhibitor-of-autotaxin-with-antiproliferative-activity
#12
Tian-Shu Kang, Wanhe Wang, Hai-Jing Zhong, Jia-Xin Liang, Chung-Nga Ko, Jin-Jian Lu, Xiu-Ping Chen, Dik-Lung Ma, Chung-Hang Leung
BACKGROUND: Cancer of the skin is by far the most common of all cancers. Melanoma accounts for only about 1% of skin cancers but causes a large majority of skin cancer deaths. Autotaxin (ATX), also known as ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), regulates physiological and pathological functions of lysophosphatidic acid (LPA), and is thus an important therapeutic target. METHODS: We synthesized ten metal-based complexes and a novel cyclometalated rhodium(III) complex 1 was identified as an ATX enzymatic inhibitor using multiple methods, including ATX enzymatic assay, thermal shift assay, western immunoblotting and so on...
February 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27537838/e4orf1-enhances-glucose-uptake-independent-of-proximal-insulin-signaling
#13
Ha-Na Na, Vijay Hegde, Olga Dubuisson, Nikhil V Dhurandhar
Impaired proximal insulin signaling is often present in diabetes. Hence, approaches to enhance glucose disposal independent of proximal insulin signaling are desirable. Evidence indicates that Adenovirus-derived E4orf1 protein may offer such an approach. This study determined if E4orf1 improves insulin sensitivity and downregulates proximal insulin signaling in vivo and enhances cellular glucose uptake independent of proximal insulin signaling in vitro. High fat fed mice were injected with a retrovirus plasmid expressing E4orf1, or a null vector...
2016: PloS One
https://www.readbyqxmd.com/read/27467858/effects-of-different-variants-in-the-enpp1-gene-on-the-functional-properties-of-ectonucleotide-pyrophosphatase-phosphodiesterase-family-member-1
#14
Jacqueline Stella, Insa Buers, Koen van de Wetering, Wolfgang Höhne, Frank Rutsch, Yvonne Nitschke
Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (E-NPP1), encoded by ENPP1, is a plasma membrane protein that generates inorganic pyrophosphate (PPi ), a physiologic inhibitor of hydroxyapatite formation. In humans, variants in ENPP1 are associated with generalized arterial calcification of infancy, an autosomal-recessive condition causing premature onset of arterial calcification and intimal proliferation resulting in stenoses. ENPP1 variants also cause pseudoxanthoma elasticum characterized by ectopic calcification of soft connective tissues...
November 2016: Human Mutation
https://www.readbyqxmd.com/read/27454315/alkalosis-and-dialytic-clearance-of-phosphate-increases-phosphatase-activity-a-hidden-consequence-of-hemodialysis
#15
Ricardo Villa-Bellosta, Emilio González-Parra, Jesús Egido
BACKGROUND: Extracellular pyrophosphate is a potent endogenous inhibitor of vascular calcification, which is degraded by alkaline phosphatase (ALP) and generated by hydrolysis of ATP via ectonucleotide pyrophosphatase/phosphodiesterase 1 (eNPP1). ALP activity (as routinely measured in clinical practice) represents the maximal activity (in ideal conditions), but not the real activity (in normal or physiological conditions). For the first time, the present study investigated extracellular pyrophosphate metabolism during hemodialysis sessions (including its synthesis via eNPP1 and its degradation via ALP) in physiological conditions...
2016: PloS One
https://www.readbyqxmd.com/read/27406238/enpp1-processes-protein-adp-ribosylation-in-vitro
#16
Luca Palazzo, Casey M Daniels, Joanne E Nettleship, Nahid Rahman, Robert Lyle McPherson, Shao-En Ong, Kazuki Kato, Osamu Nureki, Anthony K L Leung, Ivan Ahel
ADP-ribosylation is a conserved post-translational protein modification that plays a role in all major cellular processes, particularly DNA repair, transcription, translation, stress response and cell death. Hence, dysregulation of ADP-ribosylation is linked to the physiopathology of several human diseases including cancers, diabetes and neurodegenerative disorders. Protein ADP-ribosylation can be reversed by the macrodomain-containing proteins PARG, TARG1, MacroD1 and MacroD2, which hydrolyse the ester bond known to link proteins to ADP-ribose as well as consecutive ADP-ribose subunits; targeting this bond can thus result in the complete removal of the protein modification or the conversion of poly(ADP-ribose) to mono(ADP-ribose)...
September 2016: FEBS Journal
https://www.readbyqxmd.com/read/27238374/the-enpp1-k121q-polymorphism-is-associated-with-type-2-diabetes-and-related-metabolic-phenotypes-in-a-taiwanese-population
#17
Tun-Jen Hsiao, Eugene Lin
Increased risk of developing type 2 diabetes (T2D) has been associated with a single nucleotide polymorphism (SNP), rs1044498 (K121Q), in the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene, but this association is unclear among Asians. In this replication study, we reassessed whether the ENPP1 rs1044498 SNP is associated with T2D, obesity, and T2D/obesity-related metabolic traits in a Taiwanese population. A total of 1513 Taiwanese subjects were assessed in this study. The ENPP1 rs1044498 SNP was genotyped by the Taqman assay...
September 15, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27219689/association-of-k121q-polymorphism-in-ectonucleotide-pyrophosphatase-phosphodiesterase-1-with-clinical-characteristics-of-metabolic-syndrom
#18
N Li, H Pan, M Cui, Q Li
PURPOSE: This study aimed to investigate the relationships between K121Q polymorphism of ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) and clinical characteristics of metabolic syndrome (MS) in northern Han Chinese. MATERIALS AND METHODS: A total of 209 MS patients and 248 healthy controls of Han ethnic group in northern China were enrolled in this study. Various clinical parameters of these participants were firstly collected and compared, including age, sex, body mass index (BMI), waist circumference (WC), systolic and diastolic blood pressures (SBP/DBP), fasting plasma glucose (FPG), fasting insulin (FINS), homeostasis model assessment of insulin resistance index (HOMA-IR), total cholesterol (TC), triglycerides (TG), high-density and low-density lipoprotein cholesterol (LDL-C/HDL-C)...
May 2016: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/27187064/corpus-luteum-as-a-novel-target-of-weight-changes-that-contribute-to-impaired-female-reproductive-physiology-and-function
#19
Satu Kuokkanen, Alex J Polotsky, Justin Chosich, Andrew P Bradford, Anna Jasinska, Tzu Phang, Nanette Santoro, Susan E Appt
UNLABELLED: Obesity and malnutrition are associated with decreased fecundity in women. Impaired reproductive capacity in obese women is often attributed to anovulation. However, obese women with ovulatory cycles also have reduced fertility, but the etiology of their impaired reproduction is only partially understood. Accumulating evidence suggests that obesity directly impairs oocyte and embryo quality as well as endometrial receptivity. In obese women, urinary progesterone metabolite excretion is decreased, but in excess of what can be explained by suppressed gonadotropin secretion, suggesting that apart from its central effect obesity may directly affect progesterone (P4) production...
August 2016: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/27086348/interleukin-1%C3%AE-suppresses-the-transporter-genes-ank-and-ent1-expression-in-stromal-progenitor-cells-retaining-mineralization
#20
Yoichi Ezura, Xin Lin, Arina Hatta, Yayoi Izu, Masaki Noda
Heterotopic ossification (HO) in various tissues evokes clinical problems. Inflammatory responses of the stromal progenitor cells may be involved in its etiology. Previous report indicated that pro-inflammatory cytokines including IL-1β enhanced the in vitro calcification of human mesenchymal stem cells (MSCs), by suppressing the expression of ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (ENPP1). However, possible contribution of other related factors had not been investigated. Here, we investigated the expression of regulators of extracellular pyrophosphate and nucleosides including Enpp1, Nt5e, Ank, Enptds, and Ent1, examining various connective tissue stromal progenitor cells, including bone marrow stromal cells and synovium derived cells from mouse, or bone marrow MSCs from human...
August 2016: Calcified Tissue International
keyword
keyword
77046
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"