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Summary Literature (60)
Literature for DOID 655: inherited metabolic disorder

Xenbase Articles :
( Denotes literature images)
Negative regulation of Hedgehog signaling by the cholesterogenic enzyme 7-dehydrocholesterol reductase., Koide T,Hayata T,Cho KW, Development. June 1, 2006; 133(12):1477-9129.
The MRH protein Erlectin is a member of the endoplasmic reticulum synexpression group and functions in N-glycan recognition., Cruciat CM,Hassler C,Niehrs C, J Biol Chem. May 5, 2006; 281(18):1083-351X.
The organization and inheritance of the mitochondrial genome., Chen XJ,Butow RA, Nat Rev Genet. November 1, 2005; 6(11):1471-0056.
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome., Proks P,Girard C,Haider S,Gloyn AL,Hattersley AT,Sansom MS,Ashcroft FM, EMBO Rep. May 1, 2005; 6(5):1469-3178.
In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations., Schimanski LM,Drakesmith H,Merryweather-Clarke AT,Viprakasit V,Edwards JP,Sweetland E,Bastin JM,Cowley D,Chinthammitr Y,Robson KJ,Townsend AR, Blood. May 15, 2005; 105(10):1528-0020.
A structural basis for the acute effects of HIV protease inhibitors on GLUT4 intrinsic activity., Hertel J,Struthers H,Horj CB,Hruz PW, J Biol Chem. December 31, 2004; 279(53):1083-351X.
The amino acid transporter asc-1 is not involved in cystinuria., Pineda M,Font M,Bassi MT,Manzoni M,Borsani G,Marigo V,Fernández E,Río RM,Purroy J,Zorzano A,Nunes V,Palacín M, Kidney Int. October 1, 2004; 66(4):1523-1755.
Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia., Chubanov V,Waldegger S,Mederos y Schnitzler M,Vitzthum H,Sassen MC,Seyberth HW,Konrad M,Gudermann T, Proc Natl Acad Sci U S A. March 2, 2004; 101(9):1091-6490.
A model of tripeptidyl-peptidase I (CLN2), a ubiquitous and highly conserved member of the sedolisin family of serine-carboxyl peptidases., Wlodawer A,Durell SR,Li M,Oyama H,Oda K,Dunn BM, BMC Struct Biol. November 11, 2003; 3:1472-6807.
Hedgehog signaling in gastrointestinal development and disease., Harmon EB,Ko AH,Kim SK, Curr Mol Med. February 1, 2002; 2(1):1875-5666.
The cloning of extracellular Ca(2+)-sensing receptors from parathyroid and kidney: molecular mechanisms of extracellular Ca(2+)-sensing., Brown EM,Pollak M,Chou YH,Seidman CE,Seidman JG,Hebert SC, J Nutr. July 1, 1995; 125(7 Suppl):1541-6100.
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein., Shoulders CC,Brett DJ,Bayliss JD,Narcisi TM,Jarmuz A,Grantham TT,Leoni PR,Bhattacharya S,Pease RJ,Cullen PM, Hum Mol Genet. December 1, 1993; 2(12):1460-2083.
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes., Proks P,Arnold AL,Bruining J,Girard C,Flanagan SE,Larkin B,Colclough K,Hattersley AT,Ashcroft FM,Ellard S, Hum Mol Genet. June 1, 2006; 15(11):1460-2083.
Impaired iron transport activity of ferroportin 1 in hereditary iron overload., McGregor JA,Shayeghi M,Vulpe CD,Anderson GJ,Pietrangelo A,Simpson RJ,McKie AT, J Membr Biol. July 1, 2005; 206(1):1432-1424.
Aminoaciduria and altered renal expression of luminal amino acid transporters in mice lacking novel gene collectrin., Malakauskas SM,Quan H,Fields TA,McCall SJ,Yu MJ,Kourany WM,Frey CW,Le TH, Am J Physiol Renal Physiol. February 1, 2007; 292(2):1522-1466.
Transcription factor HNF1beta and novel partners affect nephrogenesis., Dudziak K,Mottalebi N,Senkel S,Edghill EL,Rosengarten S,Roose M,Bingham C,Ellard S,Ryffel GU, Kidney Int. July 1, 2008; 74(2):1523-1755.
Use of tc-99m mebrofenin as a clinical probe to assess altered hepatobiliary transport: integration of in vitro, pharmacokinetic modeling, and simulation studies., Ghibellini G,Leslie EM,Pollack GM,Brouwer KL, Pharm Res. August 1, 2008; 25(8):1573-904X.
Promoting ectopic pancreatic fates: pancreas development and future diabetes therapies., Pearl EJ,Horb ME, Clin Genet. October 1, 2008; 74(4):1399-0004.
Heme metabolism enzymes are dynamically expressed during Xenopus embryonic development., Shi J,Mei W,Yang J, Biocell. December 1, 2008; 32(3):0327-9545.
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival., Rauschenberger K,Schöler K,Sass JO,Sauer S,Djuric Z,Rumig C,Wolf NI,Okun JG,Kölker S,Schwarz H,Fischer C,Grziwa B,Runz H,Nümann A,Shafqat N,Kavanagh KL,Hämmerling G,Wanders RJ,Shield JP,Wendel U,Stern D,Nawroth P,Hoffmann GF,Bartram CR,Arnold B,Bierhaus A,Oppermann U,Steinbeisser H,Zschocke J, EMBO Mol Med. February 1, 2010; 2(2):1757-4684.
An alpha7 nicotinic acetylcholine receptor-selective agonist reduces weight gain and metabolic changes in a mouse model of diabetes., Marrero MB,Lucas R,Salet C,Hauser TA,Mazurov A,Lippiello PM,Bencherif M, J Pharmacol Exp Ther. January 1, 2010; 332(1):1521-0103.
Transient expression of Ngn3 in Xenopus endoderm promotes early and ectopic development of pancreatic beta and delta cells., Oropeza D,Horb M, Genesis. March 1, 2012; 50(3):1526-968X.
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome., Valayannopoulos V,Bakouh N,Mazzuca M,Nonnenmacher L,Hubert L,Makaci FL,Chabli A,Salomons GS,Mellot-Draznieks C,Brulé E,de Lonlay P,Toulhoat H,Munnich A,Planelles G,de Keyzer Y, J Inherit Metab Dis. January 1, 2013; 36(1):1573-2665.
The unusual stoichiometry of ADP activation of the KATP channel., Hosy E,Vivaudou M, Front Physiol. January 28, 2014; 5:1664-042X.
Recessive mutations in PCBD1 cause a new type of early-onset diabetes., Simaite D,Kofent J,Gong M,Rüschendorf F,Jia S,Arn P,Bentler K,Ellaway C,Kühnen P,Hoffmann GF,Blau N,Spagnoli FM,Hübner N,Raile K, Diabetes. October 1, 2014; 63(10):1939-327X.
Inhibitory effects of insulin on GABAA currents modulated by the GABAA alpha subunit., Williams DB, J Recept Signal Transduct Res. January 1, 2015; 35(6):1532-4281.
Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis., Mi W,Rybalchenko V,Cannon SC, J Gen Physiol. August 1, 2014; 144(2):1540-7748.
Xenopus as a Model for GI/Pancreas Disease., Salanga MC,Horb ME, Curr Pathobiol Rep. June 1, 2015; 3(2):2167-485X.
Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.
Xenopus as a model system for studying pancreatic development and diabetes., Kofent J,Spagnoli FM, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.
Using Xenopus to study genetic kidney diseases., Lienkamp SS, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes., Babiker T,Vedovato N,Patel K,Thomas N,Finn R,Männikkö R,Chakera AJ,Flanagan SE,Shepherd MH,Ellard S,Ashcroft FM,Hattersley AT, Diabetologia. June 1, 2016; 59(6):1432-0428.
Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.
Micellar Nanomedicine of Novel Fatty Acid Modified Xenopus Glucagon-like Peptide-1: Improved Physicochemical Characteristics and Therapeutic Utilities for Type 2 Diabetes., Han J,Fei Y,Zhou F,Chen X,Zheng W,Fu J, Mol Pharm. November 6, 2017; 14(11):1543-8392.
Interaction of Excitatory Amino Acid Transporters 1 - 3 (EAAT1, EAAT2, EAAT3) with N-Carbamoylglutamate and N-Acetylglutamate., Burckhardt BC,Burckhardt G, Cell Physiol Biochem. January 1, 2017; 43(5):1421-9778.
Stac3 enhances expression of human CaV1.1 in Xenopus oocytes and reveals gating pore currents in HypoPP mutant channels., Wu F,Quinonez M,DiFranco M,Cannon SC, J Gen Physiol. March 5, 2018; 150(3):1540-7748.
A comparative genomics study of carbohydrate/glucose metabolic genes: from fish to mammals., Zhang Y,Zhang Y,Qin C,Yang L,Lu R,Zhao X,Nie G, BMC Genomics. April 11, 2018; 19(1):1471-2164.
Unexpected metabolic disorders induced by endocrine disruptors in Xenopus tropicalis provide new lead for understanding amphibian decline., Regnault C,Usal M,Veyrenc S,Couturier K,Batandier C,Bulteau AL,Lejon D,Sapin A,Combourieu B,Chetiveaux M,Le May C,Lafond T,Raveton M,Reynaud S, Proc Natl Acad Sci U S A. May 8, 2018; 115(19):1091-6490.
Binding of sulphonylureas to plasma proteins - A KATP channel perspective., Proks P,Kramer H,Haythorne E,Ashcroft FM, PLoS One. May 15, 2018; 13(5):1932-6203.
Rational design of dimeric lipidated Xenopus glucagon-like peptide 1 analogues as long-acting antihyperglycaemic agents., Han J,Huang Y,Chen X,Zhou F,Fei Y,Fu J, Eur J Med Chem. September 5, 2018; 157:1768-3254.
Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening., Hou P,Eldstrom J,Shi J,Zhong L,McFarland K,Gao Y,Fedida D,Cui J, Nat Commun. November 23, 2017; 8(1):2041-1723.
A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms., Sampedro Castañeda M,Zanoteli E,Scalco RS,Scaramuzzi V,Marques Caldas V,Conti Reed U,da Silva AMS,O'Callaghan B,Phadke R,Bugiardini E,Sud R,McCall S,Hanna MG,Poulsen H,Männikkö R,Matthews E, Brain. December 1, 2018; 141(12):1460-2156.
Concomitant exposure to benzo[a]pyrene and triclosan at environmentally relevant concentrations induces metabolic syndrome with multigenerational consequences in Silurana (Xenopus) tropicalis., Usal M,Regnault C,Veyrenc S,Couturier K,Batandier C,Bulteau AL,Lejon D,Combourieu B,Lafond T,Raveton M,Reynaud S, Sci Total Environ. November 1, 2019; 689:1879-1026.
Evaluation of mutant muscle Ca2+ channel properties using two different expression systems., Allard B, J Gen Physiol. July 2, 2018; 150(7):1540-7748.
Glucocorticoid receptor is required for survival through metamorphosis in the frog Xenopus tropicalis., Sterner ZR,Shewade LH,Mertz KM,Sturgeon SM,Buchholz DR, Gen Comp Endocrinol. May 15, 2020; 291:1095-6840.
Stapled and Xenopus Glucagon-Like Peptide 1 (GLP-1)-Based Dual GLP-1/Gastrin Receptor Agonists with Improved Metabolic Benefits in Rodent Models of Obesity and Diabetes., Chen X,Fu J,Zhou F,Yang Q,Wang J,Feng H,Jiang W,Jin L,Tang X,Jiang N,Yin J,Han J, J Med Chem. November 12, 2020; 63(21):1520-4804.
Beneficial actions of the [A14K] analog of the frog skin peptide PGLa-AM1 in mice with obesity and degenerative diabetes: A mechanistic study., Musale V,Moffett RC,Conlon JM,Flatt PR,Abdel-Wahab YH, Peptides. February 1, 2021; 136:1873-5169.
Modeling endoderm development and disease in Xenopus., Edwards NA,Zorn AM, Curr Top Dev Biol. January 1, 2021; 145:1557-8933.
Stapled, Long-Acting Xenopus GLP-1-Based Dual GLP-1/Glucagon Receptor Agonists with Potent Therapeutic Efficacy for Metabolic Disease., Han C,Sun Y,Yang Q,Zhou F,Chen X,Wu L,Sun L,Han J, Mol Pharm. August 2, 2021; 18(8):1543-8392.
Genetic and Physiological Effects of Insulin on Human Urate Homeostasis., Mandal AK,Leask MP,Estiverne C,Choi HK,Merriman TR,Mount DB, Front Physiol. January 1, 2021; 12:1664-042X.
BK channel openers NS1619 and NS11021 reverse hydrogen peroxide-induced membrane potential changes in skeletal muscle., Coskun C,Buyuknacar HS,Cicek F,Gunay I, J Recept Signal Transduct Res. October 1, 2020; 40(5):1532-4281.
The Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree., Lostao MP,Loo DD,Hernell O,Meeuwisse G,Martin MG,Wright EM, Function (Oxf). January 1, 2021; 2(5):2633-8823.
Physical basis for distinct basal and mechanically gated activity of the human K+ channel TRAAK., Rietmeijer RA,Sorum B,Li B,Brohawn SG, Neuron. September 15, 2021; 109(18):0896-6273.
Membrane cholesterol regulates TRPV4 function, cytoskeletal expression, and the cellular response to tension., Lakk M,Hoffmann GF,Gorusupudi A,Enyong E,Lin A,Bernstein PS,Toft-Bertelsen T,MacAulay N,Elliott MH,Križaj D, J Lipid Res. January 1, 2021; 62:0022-2275.
Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants., Grünert SC,Schumann A,Baronio F,Tsiakas K,Murko S,Spiekerkoetter U,Santer R, Genes (Basel). November 10, 2021; 12(11):2073-4425.
Ion permeation controlled by hydrophobic residues and proton binding in the proton-activated chloride channel., Cai R,Tang J,Chen XZ, iScience. November 1, 2021; 24(12):2589-0042.
Migration of antibiotic resistance genes and evolution of flora structure in the Xenopus tropicalis intestinal tract with combined exposure to roxithromycin and oxytetracycline., Lin X,Xu Y,Xu Y,Han R,Luo W,Zheng L, Sci Total Environ. May 10, 2022; 820:1879-1026.
Advancements in the use of xenopus oocytes for modelling neurological disease for novel drug discovery., O'Connor EC,Kambara K,Bertrand D, Expert Opin Drug Discov. February 1, 2024; 19(2):1746-045X.
Enhanced C-To-T and A-To-G Base Editing in Mitochondrial DNA with Engineered DdCBE and TALED., Wei Y,Jin M,Huang S,Yao F,Ren N,Xu K,Li S,Gao P,Zhou Y,Chen Y,Chen Y,Yang H,Li W,Xu C,Zhang M,Wang X, Adv Sci (Weinh). January 1, 2024; 11(3):2198-3844.
Amphibian host-defense peptides with potential for Type 2 diabetes therapy - an updated review., Conlon JM,Owolabi BO,Flatt PR,Abdel-Wahab YHA, Peptides. February 22, 2024; 175:1873-5169.