Genomes and Genes
Gene Symbol: ATP7B
Description: ATPase copper transporting beta
Alias: PWD, WC1, WND, copper-transporting ATPase 2, ATPase, Cu(2+)- transporting, beta polypeptide, ATPase, Cu++ transporting, beta polypeptide, Wilson disease-associated protein, copper pump 2
Publications191 found, 100 shown here
- Wilson's disease: a new gene and an animal model for an old diseaseJ A Cuthbert
Department of Internal Medicine, University of Texas Southwestern Medical Center at Dallas, TX 75235 8887, USA
J Investig Med 43:323-36. 1995..The Wilson's disease gene (WND) encodes a putative copper-transporting protein that is expressed almost exclusively in the liver...
- Isolation and characterization of a human liver cDNA as a candidate gene for Wilson diseaseY Yamaguchi
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110
Biochem Biophys Res Commun 197:271-7. 1993..These data suggest that this cDNA is a candidate gene for Wilson disease and that the protein encoded at this locus is a member of the P-type ATPase family...
- The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes geneP C Bull
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Nat Genet 5:327-37. 1993..We show that this sequence forms part of a P-type ATPase gene (referred to here as Wc1) that is very similar to MNK, with six putative metal binding regions similar to those found in prokaryotic heavy ..
- Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson diseaseZ Y Wu
Department of Neurology, First Affiliated Hospital, Fujian Medical University, 20 Chazhong Rd, Fuzhou 350005, People s Republic of China
Arch Neurol 58:971-6. 2001The defective gene (ATP7B) that causes Wilson disease (WD) codes for a putative copper-transporting P-type adenosine triphosphatase...
- Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartmentsX L Yang
Department of Biochemistry, Akita University School of Medicine, 1 1 1 Hondo, Akita, Akita 010, Japan
Biochem J 326:897-902. 1997..Recently a gene for Wilson disease (WD)(also named the ATP7B gene) was cloned. This gene encodes a copper transporter of the P-type ATPase...
- Common mutations of ATP7B in Wilson disease patients from HungaryGabor Firneisz
1st Department of Medicine, Semmelweis University, Budapest, Hungary
Am J Med Genet 108:23-8. 2002Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The H1069Q mutation in exon 14 of ATP7B is far the most frequent in Wilson patients of European origin...
- Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell linesDominik Huster
Department of Internal Medicine II, University of Leipzig, Germany
Gastroenterology 124:335-45. 2003Wilson's disease, a hereditary disorder caused by mutations in the Wilson's disease gene (ATP7B), leads to hepatic and/or neurological pathology resulting from cellular copper overload...
- Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson diseaseXiao Qing Liu
Department of Neurology, Xinhua Hospital, Shanghai Second Medical University, 1665 KongJiang Rd, Shanghai 200092, China
World J Gastroenterol 10:590-3. 2004To determine the mutational characterization of P-type ATP7B gene and to explore the correlation of ATP7B genotype to phenotype in Chinese patients with Wilson disease (WD).
- Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patientsMarta M Deguti
Department of Gastroenterology, Sao Paulo University School of Medicine, Sao Paulo, Brazil
Hum Mutat 23:398. 2004..The aim was to assess both the phenotype in Brazilian WD patients and the corresponding ATP7B genotype. Sixty subjects belonging to 46 pedigrees diagnosed as WD were included in this study...
- The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104FClinton T Morgan
Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, OR 97239 3098, USA
J Biol Chem 279:36363-71. 2004Copper transport by the P(1)-ATPase ATP7B, or Wilson disease protein (WNDP),1 is essential for human metabolism. Perturbation of WNDP function causes intracellular copper accumulation and severe pathology, known as Wilson disease (WD)...
- Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B geneE Margarit
Department of Genetics, Hospital Clinic, Barcelona, Spain
Clin Genet 68:61-8. 2005..More than 200 mutations in the ATP7B gene causing this autosomal recessive defect have been reported...
- Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson diseaseSangwook Park
Genome Research Center for Birth Defects and Genetic Disorders, Asan Medical Center, Seoul, Korea
Hum Mutat 28:1108-13. 2007..Hepatic cirrhosis and neuronal degeneration are the major symptoms of WND, and mutations in the ATP7B gene are associated with WND...
- Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's diseaseK Barada
Clin Genet 72:264-7. 2007
- Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patientsSheng Ye
Department of Pediatrics, Child Hospital, Zhejiang University, Hangzhou 310005, Zhejiang Province, China
World J Gastroenterol 13:5147-50. 2007To study mutations in the P-type ATPase (ATP7B) gene responsible for Wilson disease (WD) in the Eastern Chinese population, and the possible correlation of specific mutations with clinical characteristics.
- Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutationsTawhida Y Abdelghaffar
Pediatrics Department, Ain Shams University, Cairo, Egypt
J Hum Genet 53:681-7. 2008The aim of this work was to study the mutations within ATP7B in Egyptian children with Wilson disease and to evaluate any potential correlation between genotype and phenotype in this cohort...
- Metal binding domains 3 and 4 of the Wilson disease protein: solution structure and interaction with the copper(I) chaperone HAH1Lucia Banci
Magnetic Resonance Center CERM, University of Florence, Via L Sacconi 6, 50019 Sesto Fiorentino, Italy
Biochemistry 47:7423-9. 2008The Wilson disease protein or ATP7B is a P 1B-type ATPase involved in human copper homeostasis. The extended N-terminus of ATP7B protrudes into the cytosol and contains six Cu(I) binding domains...
- Analysis of exon 8 of ATP7B gene in Thai patients with Wilson diseaseJesada Keandaungjuntr
Division of Neurology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
J Med Assoc Thai 94:1184-8. 2011Determine the frequency of mutations in exon 8 of ATP7B gene.
- The Wilson disease gene: spectrum of mutations and their consequencesG R Thomas
Research Institute, Hospital for Sick Children, Toronto, Canada
Nat Genet 9:210-7. 1995We have previously reported the cloning of a gene that encodes a copper transporting P-type ATPase (ATP7B) which is defective in Wilson disease...
- Haplotypes and mutations in Wilson diseaseG R Thomas
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Am J Hum Genet 56:1315-9. 1995..The use of the haplotypes that we have identified provides an important guide for the identification of known mutations and can facilitate future mutation searches...
- Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictionsK Petrukhin
Department of Genetics and Development, College of Physicians and Surgeons, Columbia University, New York, NY
Hum Mol Genet 3:1647-56. 1994..A candidate gene for WD (ATP7B) has recently been identified based upon apparent disease-specific mutations and a striking amino acid homology to ..
- Mapping, cloning and genetic characterization of the region containing the Wilson disease geneK Petrukhin
Department of Psychiatry, Columbia University, New York State Psychiatric Institute, New York 10032
Nat Genet 5:338-43. 1993..Our haplotype and mutation analyses predict that approximately half of all WD mutations will be rare in the American and Russian populations...
- The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease geneR E Tanzi
Neurology Department, Harvard Medical School, Boston, Massachusetts 02114
Nat Genet 5:344-50. 1993..3. Here we describe a partial cDNA clone (pWD) which maps to this region and shows a particular 76% amino acid homology to the Menkes disease gene, Mc1...
- Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analysesA B Shah
Department of Genetics and Development, Columbia University, New York, NY 10032, USA
Am J Hum Genet 61:317-28. 1997..On the basis of sequence homology to known genes, the WD gene (ATP7B) appears to be a copper-transporting P-type ATPase...
- Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groupsH Kalinsky
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel
Hum Mutat 11:145-51. 1998..Eighteen unique haplotypes were derived from allelic combinations for four marker loci spanning the WD gene, ATP7B, at chromosome 13q14.3: D13S133, D13S296, D13S301 and D13S295...
- Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson diseaseE K Kim
Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Taejon
Hum Mutat 11:275-8. 1998Four mutations--R778L, A874V, L1083F, and 2304delC--in the copper-transporting enzyme, P-type ATPase (ATP7B), were identified in Korean Patients with Wilson disease...
- Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutationA S Payne
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA
Proc Natl Acad Sci U S A 95:10854-9. 1998....
- Mutation analysis of Wilson disease in Taiwan and description of six new mutationsC H Tsai
Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan
Hum Mutat 12:370-6. 1998..Using an RNA transcriptional assay, we confirmed that both of our detected splice-site mutations resulted in exon skipping...
- A study of Wilson disease mutations in BritainD Curtis
Centre for Human Genetics, Sheffield, UK
Hum Mutat 14:304-11. 1999..The disease is caused by a large number of mutations in the ATP7B gene, some of which appear to be population specific, whereas others are found in probands from a variety of ..
- Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's diseaseT Okada
The 2nd Department of Internal Medicine, Kanazawa University, School of Medicine, Ishikawa, Japan
Hum Mutat 15:454-62. 2000The gene ATP7B responsible for Wilson's disease (WD) produces a protein which is predicted to be a copper-binding P-type ATPase, homologous to the Menkes disease gene (ATP7A). Various mutations of ATP7B have been identified...
- Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation associationC C Lee
Department of Neurology, China Medical College Hospital, Taichung, Taiwan
J Hum Genet 45:275-9. 2000Wilson disease (WND) is caused by a deficiency of the copper-transporting enzyme, P-type ATPase (ATP7B). Twelve different mutations have previously been identified in Taiwan Chinese with Wilson disease...
- The Lys1010-Lys1325 fragment of the Wilson's disease protein binds nucleotides and interacts with the N-terminal domain of this protein in a copper-dependent mannerR Tsivkovskii
Department of Biochemistry and Molecular Biology, Oregon Health Sciences University, Portland, Oregon 97201, USA
J Biol Chem 276:2234-42. 2001..Significantly, the effects of copper-free and copper-bound N-WNDP on ATP-BD are not identical. The implications of these results for the WNDP function are discussed...
- Molecular diagnosis of Wilson diseaseP Butler
Department of Medicine, Royal Free and University College Medical School, Royal Free Campus, Rowland Hill Street, Hampstead, London NW3 2PF, United Kingdom
Mol Genet Metab 72:223-30. 2001Wilson disease (WD) is caused by mutations in the ATP7B gene. The diagnosis is based on clinical and biochemical criteria but these are increasingly recognized to have low sensitivity...
- High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysisK Caca
Department of Medicine II, University of Leipzig, Philipp Rosenthal Strasse 27, 04103 Leipzig, Germany
J Hepatol 35:575-81. 2001Wilson disease is caused by a large number of different mutations in the ATP7B gene. Wilson disease patients from a homogeneous ethnical background (Saxonia) were studied for distribution and phenotypes of ATP7B mutations.
- The Wilson's disease protein expressed in Sf9 cells is phosphorylatedS M Vanderwerf
Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, OR 97201, USA
Biochem Soc Trans 30:739-41. 2002..The identification of phosphorylation sites is the first step towards understanding the physiological role of WNDP phosphorylation...
- Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson diseaseHan Wook Yoo
Department of Pediatrics, Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Genet Med 4:43S-48S. 2002..The product of the Wilson disease gene is a copper transporting P-type ATPase (ATP7B)...
- The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7BRuslan Tsivkovskii
Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239, USA
J Biol Chem 278:13302-8. 2003The copper-transporting ATPase ATP7B is essential for normal distribution of copper in human cells. Mutations in ATP7B lead to Wilson's disease, a severe disorder with neurological and hepatic manifestations...
- Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from YugoslaviaGeorgios Loudianos
Ospedale Regionale per le Microcitemie, ASL 8, Cagliari, 09121 Cagliari Sardegna, Italy
Genet Test 7:107-12. 2003..disorder of copper metabolism resulting from the absence or dysfunction of a copper transporting P-type ATPase (ATP7B). Approximately 150 mutations of the ATP7B have been identified to date...
- Binding of copper(I) by the Wilson disease protein and its copper chaperoneAmy K Wernimont
Department of Biochemistry, Northwestern University, Evanston, IL 60208, USA
J Biol Chem 279:12269-76. 2004The Wilson disease protein (WND) is a transport ATPase involved in copper delivery to the secretory pathway. Mutations in WND and its homolog, the Menkes protein, lead to genetic disorders of copper metabolism...
- Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's diseaseY H Gu
Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan
Clin Genet 64:479-84. 2003..The disease is caused by a large number of mutations in the ATP7B gene comprising 21 expressed exons...
- Expression and localization of menkes and Wilson copper transporting ATPases in human placentaB Hardman
School of Biological and Chemical Sciences, Centre for Cellular and Molecular Biology, Deakin University, 221 Burwood Highway, Burwood Campus, Burwood, Melbourne, Victoria 3125, Australia
Placenta 25:512-7. 2004..Two copper transporting ATPases, Menkes (ATP7A; MNK) and Wilson (ATP7B; WND) are known to be expressed in the placenta and are thought to have a role in copper transport to the fetus...
- The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysisJanneke M Stapelbroek
Department of Pediatric Gastroenterology, Wilhelmina Children s Hospital, University Medical Center, P O Box 85090, 3508 AB Utrecht, The Netherlands
J Hepatol 41:758-63. 2004Wilson disease is an hereditary disorder of copper metabolism, caused by mutations in the ATP7B gene, and leading to hepatic or neurologic disease...
- Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson diseaseSlavka Vrabelova
Center of Molecular Biology and Gene Therapy, University Hospital Brno, Cernopolni 9, 625 00 Brno, Czech Republic
Mol Genet Metab 86:277-85. 2005..The disease is caused by mutations in the ATP7B gene...
- Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's diseaseG Gromadzka
Institute of Psychiatry and Neurology, Second Department of Neurology, Warsaw, Poland
Clin Genet 68:524-32. 2005..It is proposed that this variation may be a result of differential functional disruption of ATPase7B (ATP7B) resulting from mutations in the gene ATP7B...
- Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutationsOleg Dmitriev
Department of Biomolecular Chemistry, University of Wisconsin, Madison, WI 53706, USA
Proc Natl Acad Sci U S A 103:5302-7. 2006Wilson disease protein (ATP7B) is a copper-transporting P(1B)-type ATPase that regulates copper homeostasis and biosynthesis of copper-containing enzymes in human tissues...
- Structure of human Wilson protein domains 5 and 6 and their interplay with domain 4 and the copper chaperone HAH1 in copper uptakeDavid Achila
Department of Chemistry, Western Michigan University, 1903 West Michigan Avenue, Kalamazoo, MI 49008 5413, USA
Proc Natl Acad Sci U S A 103:5729-34. 2006..Therefore, we suggest that WLN4 and WLN2 are two acceptors of Cu(I) from HAH1, which then somehow route copper to WLN5-6, before the ATP-driven transport of copper across the vesicular membrane...
- Hormonal regulation of the Menkes and Wilson copper-transporting ATPases in human placental Jeg-3 cellsBelinda Hardman
Centre for Cellular and Molecular Biology, School of Life and Environmental Sciences, Deakin University, Melbourne Campus, 221 Burwood Highway, Burwood, Victoria 3125, Australia
Biochem J 402:241-50. 2007..Two copper-transporting ATPases, Menkes (ATP7A; MNK) and Wilson (ATP7B; WND), are expressed in the placenta and both are involved in placental copper transport, as copper accumulates in ..
- Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasisSharon La Fontaine
Centre for Cellular and Molecular Biology, School of Life and Environmental Sciences, 221 Burwood Highway, Burwood, VIC 3125, Australia
Arch Biochem Biophys 463:149-67. 2007..The copper-transporting P-type ATPases, ATP7A and ATP7B are key molecules required for the regulation and maintenance of mammalian copper homeostasis...
- Biochemical basis of regulation of human copper-transporting ATPasesSvetlana Lutsenko
Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, OR 97239, USA
Arch Biochem Biophys 463:134-48. 2007..and plasma membrane-bound proteins requires activity of the copper-transporting ATPases (Cu-ATPases) ATP7A and ATP7B. The Cu-ATPases also export excess copper from the cell and thus critically contribute to the homeostatic control ..
- Sequence variation database for the Wilson disease copper transporter, ATP7BSusan M Kenney
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
Hum Mutat 28:1171-7. 2007..This report describes the database we have developed for reporting of mutations in ATP7B, the gene defective in WND...
- Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesP De Bie
Laboratory of Metabolic and Endocrine Diseases, Room KC 02 069 1, Lundlaan 6, 3584 EA Utrecht, The Netherlands
J Med Genet 44:673-88. 2007..Central regulators of cellular copper metabolism are the copper-transporting P-type ATPases ATP7A and ATP7B. Mutations in ATP7A or ATP7B disrupt the homeostatic copper balance, resulting in copper deficiency (Menkes ..
- Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model systemGloria Hsi
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
Hum Mutat 29:491-501. 2008b>ATP7B is a copper transporting P-type ATPase defective in the autosomal recessive copper storage disorder, Wilson disease (WND)...
- Stability and ATP binding of the nucleotide-binding domain of the Wilson disease protein: effect of the common H1069Q mutationAgustina Rodriguez-Granillo
Department of Biochemistry and Cell Biology, Rice University, 6100 Main Street, Houston, TX 77251, USA
J Mol Biol 383:1097-111. 2008Perturbation of the human copper-transporter Wilson disease protein (ATP7B) causes intracellular copper accumulation and severe pathology, known as Wilson disease (WD)...
- An NMR study of the interaction of the N-terminal cytoplasmic tail of the Wilson disease protein with copper(I)-HAH1Lucia Banci
Magnetic Resonance Center, University of Florence, Via L Sacconi 6, 50019 Sesto Fiorentino, Italy
J Biol Chem 284:9354-60. 2009b>ATP7B is a human P(1B)-type ATPase that has a crucial role in maintaining copper(I) homeostasis. Mutations in the corresponding gene are the cause of Wilson disease...
- Solution structures of the actuator domain of ATP7A and ATP7B, the Menkes and Wilson disease proteinsLucia Banci
Magnetic Resonance Center CERM University of Florence, Via L Sacconi 6, 50019 Sesto Fiorentino, Italy
Biochemistry 48:7849-55. 2009ATP7A and ATP7B are two human P(1B)-type ATPases that have a crucial role in maintaining copper(I) homeostasis...
- Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver diseaseKassem Barada
Division of Gastroenterology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon
J Clin Gastroenterol 44:432-9. 2010..To determine whether any correlation exists between the phenotype and genotype of 2 Lebanese families with members affected with Wilson disease (WD)...
- Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7BLei Wan
School of Chinese Medicine, China Medical University, Taichung, Taiwan
Hepatology 52:1662-70. 2010Wilson disease is a copper metabolism disorder caused by mutations in ATP7B, a copper-transporting adenosine triphosphatase. A molecular diagnosis was performed on 135 patients with Wilson disease in Taiwan...
- Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7BOleg Y Dmitriev
Department of Biochemistry, University of Saskatchewan, Saskatoon, Saskatchewan, Canada
J Biol Chem 286:16355-62. 2011Wilson disease (WD) is a disorder of copper metabolism caused by mutations in the Cu-transporting ATPase ATP7B. WD is characterized by significant phenotypic variability, the molecular basis of which is poorly understood...
- Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical studyHarald Hofer
Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria
J Hum Genet 57:564-7. 2012Wilson disease (WD), a disorder of copper metabolism is caused by mutations in the ATP7B gene, a copper transporting ATPase. In the present study we describe a novel mutation in exon 9 of the ATP7B gene...
- A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson diseaseHassan Dastsooz
Department of Medical Genetics and Molecular Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
Gene 514:48-53. 2013Wilson disease is associated with a defect in copper metabolism and caused by different mutations in ATP7B gene...
- Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutationsOzlenen Simsek Papur
Department of Medical Biology and Genetics, Faculty of Medicine, Dokuz Eylul University, 35340 Izmir, Turkey
Eur J Med Genet 56:175-9. 2013Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene that encodes a P-type copper transporting ATPase...
- Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPaseS M Vanderwerf
Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97201, USA
J Biol Chem 276:36289-94. 2001..The novel physiological role of copper as a modulator of protein phosphorylation could be central to understanding how copper transport is regulated in mammalian cells...
- Cu(I) binding and transfer by the N terminus of the Wilson disease proteinLiliya A Yatsunyk
Department of Biochemistry, Northwestern University, Evanston, Illinois 60208, USA
J Biol Chem 282:8622-31. 2007Wilson and Menkes diseases are genetic disorders of copper metabolism caused by mutations in the Wilson (WND) and Menkes (MNK) copper-transporting P1B-type ATPases...
- [The onset of psychiatric disorders and Wilson's disease]T Benhamla
15 17, rue du Clos Bénard, EPS de Ville Evrard, secteur 93G06, 93300 Aubervilliers, France
Encephale 33:924-32. 2007..is an infrequent, autosomic recessive pathology, resulting from a loss of function of an adenosine triphosphatase (ATP7B or WDNP), secondarily to a change (more than 60 are described currently), insertion or deletion of the ATP7B gene ..
- Copper transport systems are involved in multidrug resistance and drug transportTatsuhiko Furukawa
Department of Molecular Oncology, Graduate School of Medical and Dental Sciences, Kagoshima University, 8 35 1 Sakuragaoka, Kagoshima 890 8544, Japan
Curr Med Chem 15:3268-78. 2008..Defects in the copper transporters ATP7A and ATP7B are responsible for Menkes disease and Wilson's disease respectively...
- Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretionH Roelofsen
Groningen University Institute for Drug Exploration GUIDE, Center for Liver, Digestive and Metabolic Diseases, University Hospital Groningen, Groningen, The Netherlands
Gastroenterology 119:782-93. 2000Mutations in the ATP7B gene, encoding a copper-transporting P-type adenosine triphosphatase, lead to excessive hepatic copper accumulation because of impaired biliary copper excretion in Wilson's disease...
- Defective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementationA A Michalczyk
Deakin University, Centre for Cellular and Molecular Biology, School of Biological and Chemical Sciences, Burwood Campus, 221 Burwood Highway, Burwood, Victoria 3125, Australia
Biochem J 352:565-71. 2000..Both disorders are caused by a defect in the ATP7B copper-transporting ATPase...
- NMR characterization of copper-binding domains 4-6 of ATP7B Negah Fatemi
Department of Biochemistry, University of Toronto, Toronto, Ontario M5S 1A8, Canada
Biochemistry 49:8468-77. 2010The Wilson disease protein (ATP7B) is a copper-transporting member of the P-type ATPase superfamily, which plays a central role in copper homeostasis and interacts with the copper chaperone Atox1...
- [Aorta-left ventricle coupling in permanent arterial hypertension using Doppler echocardiography]M Dahan
Service de cardiologie, , Paris, France
Arch Mal Coeur Vaiss 82:1115-20. 1989..3) isthmus-diaphragm pulse wave delay (PWD) from aortic velocity curves recorded in the isthmus and diaphragm aortic crossing by pulsed doppler...
- [Physical properties of the aorta in normotensive insulin-dependent diabetic subjects. Study using Doppler echocardiography]C Paillole
Service de cardiologie, , Paris
Arch Mal Coeur Vaiss 82:1185-9. 1989..ventricular radius (r) and wall thickness (Th) by Echocardiography TM with 2 D echo control, the pulse wave delay (PWD) by measurement of time between the feet of aortic velocity tracings, recorded in the isthmus and near the ..
- Molecular structure of the Menkes disease gene (ATP7A)H A Dierick
Department of Pediatrics, University of Michigan, Ann Arbor 48109 0618, USA
Genomics 28:462-9. 1995..The structure is very similar to that of the closely related Wilson disease gene (WND; ATP7B)...
- [Physical properties of the aorta and left ventricular geometry evaluated by Doppler echocardiography in normal subjects]M Dahan
Service de cardiologie, , Paris
Arch Mal Coeur Vaiss 81:39-43. 1988..radius (r), aortic diameter (AD) by M-mode echo with 2D echo control; 3) isthmus--diaphragm pulse wave delay (PWD) by measurement of time, between the foot of aortic velocity curves, respectively in the isthmus and near the ..
- The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellumNatalie Barnes
Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239 3098, USA
J Biol Chem 280:9640-5. 2005..The copper-transporting ATPases ATP7A and ATP7B play a central role in distribution of copper in the central nervous system; genetic mutations in ATP7A and ATP7B ..
- Funding for self-employment of people with disabilities. Grants, loans, revolving funds or linkage with microfinance programmesTon de Klerk
Lepr Rev 79:92-109. 2008..commissioned a study on the practices of funding for self-employment activities of people with disabilities (PWD), with a special focus on access to microfinance...
- Expression in mouse kidney of membrane copper transporters Atp7a and Atp7bSteven D P Moore
University of Alberta, Department of Medical Genetics, Edmonton, Alta, Canada
Nephron 92:629-34. 2002..Several copper proteins are required for copper homeostasis. ATP7A and ATP7B are genes encoding membrane copper transporters...
- Comparison of antithyroid drugs efficacy on P wave changes in patients with Graves' diseaseDilek Berker
Ankara Numune Research and Training Hospital, Endocrinology and Metabolism Clinic, Ankara, Turkey
Anadolu Kardiyol Derg 9:298-303. 2009..Our aim was to compare the effect of two antithyroid drugs (ATD) on P wave duration and dispersion (PWD) in patients with hyperthyroidism.
- Efficacy of multidrug therapy combined with mizoribine in children with diffuse IgA nephropathy in comparison with multidrug therapy without mizoribine and with methylprednisolone pulse therapyYukihiko Kawasaki
Department of Pediatrics, Fukushima University School of Medicine, Fukushima, Japan
Am J Nephrol 24:576-81. 2004..with mizoribine (PWDM) in the treatment of diffuse immunoglobulin A (IgA) nephropathy in comparison with prednisolone, warfarin, and dipyridamole therapy without mizoribine (PWD) and with methylprednisolone pulse therapy (PWD pulse).
- Liver ischemia and ischemia-reperfusion induces and trafficks the multi-specific metal transporter Atp7b to bile duct canaliculi: possible preferential transport of iron into bileJohn A Goss
Michael E DeBakey Department of Surgery, Liver Transplant Center Laboratory, Baylor College of Medicine, Houston, TX 77030, USA
Biol Trace Elem Res 122:26-41. 2008Both Atp7b (Wilson disease gene) and Atp7a (Menkes disease gene) have been reported to be trafficked by copper. Atp7b is trafficked to the bile duct canaliculi and Atp7a to the plasma membrane...
- Subtilisins of Bacillus spp. hydrolyze keratin and allow growth on feathersK L Evans
Department of Microbiology, North Carolina State University, Raleigh 27695, USA
Can J Microbiol 46:1004-11. 2000Keratinase is a serine protease produced by Bacillus licheniformis PWD-1 that effectively degrades keratin and confers the ability to grow on feathers to a protease-deficient B. subtilis strain...
- Function and regulation of human copper-transporting ATPasesSvetlana Lutsenko
Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239, USA
Physiol Rev 87:1011-46. 2007Copper-transporting ATPases (Cu-ATPases) ATP7A and ATP7B are evolutionarily conserved polytopic membrane proteins with essential roles in human physiology...
- Conservation of copper-transporting P(IB)-type ATPase functionAdam Southon
Department of Genetics, The University of Melbourne, Melbourne, VIC 3010, Australia
Biometals 23:681-94. 2010..Copper-induced trafficking of mammalian ATP7A and ATP7B from the trans-Golgi Network towards the plasma membrane is critical for their role in copper homeostasis...
- Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transportersY M Kuo
Department of Medicine, University of California, San Francisco 94143, USA
Hum Mol Genet 6:1043-9. 1997..The mouse homologues for the Menkes (MNK) and Wilson (WND) disease genes are the mottled (Atp7a) and toxic milk (Atp7b) genes, respectively...
- ATP7B copper-regulated traffic and association with the tight junctions: copper excretion into the bileSonia Hernandez
Centro de Biologia Molecular Severo Ochoa, Centro de Investigacion Biomedica en Red de Enfermedades Hepaticas y Digestivas CIBERehd, Consejo Superior de Investigaciones Cientificas, Madrid, Spain
Gastroenterology 134:1215-23. 2008The copper transporter ATP7B plays a central role in the elimination of excess copper by the liver into the bile, yet the site of its action remains controversial...
- Foot-and-mouth disease virus can induce a specific and rapid CD4+ T-cell-independent neutralizing and isotype class-switched antibody response in naïve cattleNicholas Juleff
Pirbright Laboratory, Institute for Animal Health, Ash Road, Woking, Surrey GU24 0NF, United Kingdom
J Virol 83:3626-36. 2009..The depletion of circulating CD4(+) or WC1(+) gammadelta T cells was achieved for a period extending from before challenge to after resolution of viremia and ..
- Basal expression studies of cystatins during specific growth stages of wheat spikes for defining their possible role in differential and stage dependent immunity against Karnal bunt (Tilletia indica)Shalini Purwar
Department of Molecular Biology and Genetic Engineering, College of Basic Sciences and Humanities, G B Pant University of Agriculture and Technology, Pantnagar, India
Mol Biol Rep 37:1377-89. 2010..Three members of cystatin gene family (WC1, WC2, and WC4) were cloned and sequenced...
- The CD4+ T cell immunodominant Anaplasma marginale major surface protein 2 stimulates gammadelta T cell clones that express unique T cell receptorsKevin K Lahmers
Department of Veterinary Microbiology and Pathology, Washington State University, Pullman, WA 99164 7040, USA
J Leukoc Biol 77:199-208. 2005..However, in long-term cultures of lymphocytes stimulated with A. marginale, workshop cluster 1 (WC1)+ gammadelta T cells and CD4+ alphabeta T cells proliferated, leading to a predominance of gammadelta T cells...
- Localization and light-dependent phosphorylation of white collar 1 and 2, the two central components of blue light signaling in Neurospora crassaC Schwerdtfeger
Lehrstuhl für Physiologie und Biochemie er Pflanzen, Universitat Konstanz, Germany
Eur J Biochem 267:414-22. 2000..Here, we present a biochemical analysis of WC1 and WC2 polypeptides in N. crassa...
- Immunoperoxidase studies of cell mediated immune effector cell populations in early Mycobacterium avium subsp. paratuberculosis infection in sheepL A Reddacliff
Faculty of Veterinary Science, University of Sydney, Private Bag 3, Camden, NSW 2570, Australia
Vet Immunol Immunopathol 97:149-62. 2004Immunoperoxidase (IPX) labelling for CD4, CD8, TCR-gammadelta, WC1, CD1b, IFN-gamma, CD45R, CD56 and lysozyme was used to investigate changes in cell mediated immune effector cell populations in the intestinal Peyer's patches (PP) and ..
- Diagnostic accuracy of serum ceruloplasmin in Wilson disease: determination of sensitivity and specificity by ROC curve analysis among ATP7B-genotyped subjectsChloe M Mak
Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong SAR, China
Clin Chem 54:1356-62. 2008..In this study, we evaluated various decision thresholds of serum ceruloplasmin concentration in the diagnosis of Wilson disease based on genotype-verified Wilson disease patients, carriers, and normal individuals...
- Towards an inclusive society in Asia: the invisible helping handAdrian Hock Guan Tan
Nanyang Technological University, School of Mechanical and Aerospace Engineering, Singapore
Disabil Rehabil Assist Technol 3:366-80. 2008..journey towards an inclusive society - one that allows full participation and equality for people with disability (PWD)...
- Effects of short-term propylthiouracil treatment on p wave duration and p wave dispersion in patients with overt hypertyroidismM T Katircibasi
Etimesgut Military Hospital, Department of Cardiology, Ankara, Turkey
Exp Clin Endocrinol Diabetes 115:376-9. 2007..Prolonged P wave duration and increased P wave dispersion (PWD) have been reported to carry an increased risk for atrial fibrillation.
- Exercise therapy and the additional effect of supervision on exercise therapy in patients with intermittent claudication. Systematic review of randomised controlled trialsJ Wind
Tergooiziekenhuizen, location Hilversum, Department of Surgery, The Netherlands
Eur J Vasc Endovasc Surg 34:1-9. 2007..To review the evidence for the effectiveness of exercise therapy and to estimate the additional effect of supervision on exercise therapy in patients with intermittent claudication...
- Inhibition of progesterone metabolism mimics the effect of progesterone withdrawal on forced swim test immobilityEthan H Beckley
Oregon Health and Science University, Department of Behavioral Neuroscience, School of Medicine, Mail Code L 470, 3181 SW Sam Jackson Park Rd, Portland, OR 97239 3098, United States
Pharmacol Biochem Behav 87:412-9. 2007..immobility, used to model depression, was assessed in intact female DBA/2J mice following progesterone withdrawal (PWD) or treatment with the 5alpha-reductase inhibitor finasteride...
- P-wave dispersion in endogenous and exogenous subclinical hyperthyroidismR Gen
Department of Endocrinology and Metabolism, School of Medicine, Mersin University, Mersin, Turkey
J Endocrinol Invest 33:88-91. 2010The aim of this study was to measure maximum P wave duration (Pmax) and P wave dispersion (PWD), which can be indicators for the risk of paroxysmal atrial fibrillation when increased, and to reveal their relationship with thyroid hormone ..
- Elevated numbers of SCART1+ gammadelta T cells in skin inflammation and inflammatory bowel diseaseDorte Rosenbek Fink
Department of Cardiovascular and Renal Research, Institute of Molecular Medicine, University of Southern Denmark, Winsløwparken 25 3, 5000 Odense, Denmark
Mol Immunol 47:1710-8. 2010..For years it has been known that the WC1 protein is expressed on the surface of bovine gammadelta T cells, and more recent studies indicate that WC1(+) ..
- Communicating through caregiver singing during morning care situations in dementia careLena Marmstål Hammar
Department of Neurobiology, Care Science and Society, Division of Nursing, Karolinska Institute, Stockholm, Sweden
Scand J Caring Sci 25:160-8. 2011It is well known that persons with dementia (PWD) have problems expressing and interpreting communication, making interaction with others difficult...
- Diversity of bacteria associated with Bursaphelenchus xylophilus and other nematodes isolated from Pinus pinaster trees with pine wilt diseaseDiogo Neves Proença
Institute of Marine Research IMAR CMA, Coimbra, Portugal
PLoS ONE 5:e15191. 2010..nematode (PWN), Bursaphelenchus xylophilus, has been thought to be the only causal agent of pine wilt disease (PWD), however, since bacteria have been suggested to play a role in PWD, it is important to know the diversity of the ..
- A review of the role of assistive technology for people with dementia in the hours of darknessW Carswell
School of Computing and Mathematics, University of Ulster, Northern Ireland, UK
Technol Health Care 17:281-304. 2009Assistive Technology (AT) has been utilized to support people with dementia (PwD) and their carers in the home. Such support can extend the time that PwD can remain safely at home and reduce the burden on the tertiary healthcare sector...
- Roles of COMM-domain-containing 1 in stability and recruitment of the copper-transporting ATPase in a mouse hepatoma cell lineTakamitsu Miyayama
Laboratory of Chemical Toxicology and Environmental Health, Showa Pharmaceutical University, Machida, Tokyo 194 8543, Japan
Biochem J 429:53-61. 2010..It is known that the liver copper transporter Atp7b (ATP-dependent copper transporter 7beta), localizes on the trans-Golgi network membrane under basal copper ..
- The influence of the amount of ultrafiltration in chronic hemodialysis on P wave dispersionSuat Unver
GATA Haydarpasa Training Hospital, Department of Nephrology, Istanbul, Turkey
Ren Fail 29:207-12. 2007..It is known that P wave dispersion (PWD) facilitating the development of paroxysmal atrial fibrillation is increasing during intradialytic process...
- Role of Atp7b gene in spontaneous and N-diethylnitrosamine-induced carcinogenesis in a new congenic strain, WKAH.C-Atp7b ratsT Minami
Second Department of Pathology, The University of Tokushima School of Medicine, Tokushima 770 8503, Japan
Jpn J Cancer Res 92:841-7. 2001..of Wilson's disease, have a susceptibility gene(s) to hepatocarcinogenesis in addition to the causative gene, Atp7b, we established a new congenic strain, WKAH...
- Proxy reliability: health-related quality of life (HRQoL) measures for people with disabilityE M Andresen
Department of Community Health, School of Public Health, Saint Louis University, MO 63104, USA
Qual Life Res 10:609-19. 2001..require that proxy respondents provide key exposure or outcome information, especially for studies of people with disability (PWD). In this study, we compared the health-related quality of life (HRQoL) responses of index PWD to proxies.
- Plasma Membrane Trafficking in Polarized HepatocytesAnn Hubbard; Fiscal Year: 2005..This biochemical comparison will extend to vesicles carrying the copper-transporting P-type ATPase (ATP7B), which traffics between the TGN and apical PM of hepatocytes in a copper-regulated manner and, when defective, ..
- THE ROLE OF COPPER IN PEDIATRIC LIVER DISEASEJonathan Gitlin; Fiscal Year: 2009..While previous studies have revealed a central role for the copper chaperone Atox1 and the Wilson disease ATPase (ATP7b) in hepatic copper metabolism, the mechanisms within the hepatocyte secretory pathway that lead to excretion of ..
- Copper Transport in LactationMaria Linder; Fiscal Year: 2009..also to determine how, after cell entry, copper is routed to the milk and milk cemloplasmin;the role(s) of ATOX1, WND and/or MNK in this process and in regulating the copper content of the milk;and to further define the copper ..
- Excessive Copper Levels Disrupt Hepatic Nuclear Receptor FunctionClavia Ruth Wooton-Kee; Fiscal Year: 2011..that results in excessive hepatic copper accumulation due to mutations in the Cu-transporting P-type ATPase, ATP7b, and is associated with a variety of symptoms including steatosis, cholestasis, cirrhosis, and liver failure, as ..
- Stephen B Howell; Fiscal Year: 2014DESCRIPTION (provided by applicant): The copper (Cu) exporter ATP7B is over-expressed in many tumors with acquired resistance to Cu, cisplatin (DDP) and carboplatin...
- Martina Ralle; Fiscal Year: 2014..and intracellular copper concentration, distribution, and oxidation states in hepatic tissues of control mice and ATP7b-/- mice, an animal model for WD, at crucial disease stages (Specific Aim 1)...
- Mechanisms of Homeostatic Control of Copper in TissuesLAWRENCE WILSON GRAY; Fiscal Year: 2011..WD is caused by mutations in the ATP7B gene. ATP7B is a copper- transporting ATPase, that pumps copper out of the body and into the bile...
- Svetlana Lutsenko; Fiscal Year: 2015..a severe and potentially fatal human disorder of copper homeostasis, caused by mutations in the copper transporter ATP7B. The disease is associated with copper overload in tissues, particularly in the liver, and a wide spectrum of ..
- Svetlana Lutsenko; Fiscal Year: 2016..The genes affected in Menkes disease and Wilson's disease code for the copper-transporting ATPases ATP7A and ATP7B, respectively...
- Copper Transport Mechanism of Menkes disease protein and Wilson disease proteinAMANDA NELL BARRY; Fiscal Year: 2010..The copper transporting ATPases, ATP7A (Menkes disease protein) and ATP7B (Wilson disease protein), have been identified as key regulators of copper concentration in human cells...
- Understanding Cisplatin Resistance Mediated by a Copper Efflux ProteinAmie K Boal; Fiscal Year: 2012..interaction between cisplatin and regulatory copper binding domains (MBDs) from the secretory pathway copper pump ATP7B (the Wilson disease protein) and the human copper chaperone Atox1...
- INBRE-2 MAMMALIAN COPPER METABOLISMJason L Burkhead; Fiscal Year: 2011..to dissect the mechanism of copper toxicity in hepatic cells resulting from inactivation of the copper transporter ATP7B. Hepatic nuclei are an early target of copper toxicity in a mouse model of Wilson Disease and analysis of the ..
- Iron and copper transporter trafficking in healthy and diseased melanocytesMichael Marks; Fiscal Year: 2007..transporters that import extracellular ion to the cytoplasm, and for copper by ATP-dependent pumps (ATP7A and ATP7B) that export copper from the cytosol to the secretory/endocytic pathway or outside the cell...
- MOLECULAR BIOLOGY OF THE MENKES SYNDROME GENEThomas Glover; Fiscal Year: 2000..structure of the MNK gene has been determined and found to be very similar to that of the Wilson s disease gene (ATP7B; WND). The MNK protein has been localized to the Golgi network by immunofluorescence...
- ANNE EDITH ADAMS; Fiscal Year: 2015..of Atlanta, Georgia, requests funds to test our current behavior management technology for persons with dementia (PWD), the SimpleC Companion, and to develop and test a new mobile tablet, the SimpleC Wellness Coach, in the in-home, ..
- Mary Sherman Mittelman; Fiscal Year: 2015..Hospitalization is especially difficult for peopl with dementia (PWD) and their family members and presents special care challenges to staff...
- Meredeth A Rowe; Fiscal Year: 2014..Currently no sleep therapies are empirically validated as effective for caregivers of persons with dementia (PWD), and since PWD often arise at night, improving caregiver sleep could be potentially hazardous as a sleeping ..
- Daily Stress, Health and Well-Being of Family CaregiversSteven H Zarit; Fiscal Year: 2013Caring for a person with dementia (PWD) has been found to be associated with a variety of negative changes in health and well-being...
- Laura N Gitlin; Fiscal Year: 2016..We will test CAP using a randomized two- group parallel design of 250 people with dementia (PwD) and their CGs (dyads) who will be randomly assigned to CAP or a control intervention of equivalent in-home ..
- Sihoun Hahn; Fiscal Year: 2014..Our specific aims are to: 1: Identify proteotypic peptides for Cystinosin (CTNS), Sedoheptulokinase (SHPK) and ATP7B;marker proteins for Cystinosis and Wilson diseases...
- FIT Kits: Enhancing Positive Interaction Among Family & People with DementiaKaren Love; Fiscal Year: 2010..provided by applicant): A universal dilemma faced by family and friends (care network) of a person with dementia (PWD) is how to effectively communicate, interact, and psycho-socially connect with the PWD as the dementia progresses ..
- Creating a Tobacco Cessation Program for People with Disabilities: A CBPR ApproacJamie L Pomeranz; Fiscal Year: 2010..4 percent of adults living above this level. People with disabilities (PWD) very often fall into this low income category. Data from the U.S...
- Analysis of ATP7B in Screening for Wilson DiseaseSteven Dobrowolski; Fiscal Year: 2004..The WD gene, P-type ATPase ATP7B, contains common mutations however these are specific to given ethnic groups and patients are most often compond ..
- Petko M Petkov; Fiscal Year: 2015..Hotspot Tmem182 is dependent on PWD genetic background and is two-fold more active in female B6xPWD compared to WSBxPWD, but the reverse is true in ..
- Kenneth Paigen; Fiscal Year: 2014..m. domesticus (B6) and the M. m. musculus strain PWD. We expect to learn whether each hotspot has its own unique regulatory system or whether there are shared ..
- Cisplatin and Mechanisms of Long-term Male InfertilityJOHN RICHBURG; Fiscal Year: 2007..of cisplatin-treated TM4 Sertoli cells revealed the downregulation of the main copper efflux transporter ATP7B (to levels below our detection limits)...
- Catherine A Collins; Fiscal Year: 2016..The focus of this study is the role and mechanism of a conserved axonal kinase, named Wallenda (Wnd) in Drosophila, DLK in vertebrates...
- Search for Genes Involved in Arthritis PathogenesisPetko Petkov; Fiscal Year: 2009..of C57BL/6J-ChrNPWD chromosomal substitution (consomic) strains in which a single chromosome from the wild derived PWD/PhJ mouse strain is transferred onto a C57BL/6J genetic background, I have shown that 1) a 2...
- Deployment of Quantum Mechanical Pairwise Energy Decomposition for Drug DiscoveryLANCE WESTERHOFF; Fiscal Year: 2009..I effort to further research, transfer, and validate a QM-based tool to derive the pairwise energy decomposition (PWD) between a set of targets and a large population of inhibitors...
- Sleep: Effect on Dementia Caregiver Mastery, Perceived Stress & DepressionCherie Simpson; Fiscal Year: 2009..objective of this research is to improve the health outcomes of informal caregivers of persons with dementia PWD so they are able to successfully continue providing care...
- Consomic Strains Between C57BL/6 and PWDLeah Rae Donahue; Fiscal Year: 2006..This is a set of 22C57BL/6J-Chr#PWD consomic (chromosome substitution) strains, in which each strain carries a single different chromosome from the PWD ..
- GENETIC STUDIES OF WILSON'S DISEASELindsay Farrer; Fiscal Year: 1992..be used to identify flanking DNA markers which define the smallest co- segregating region (SCR) for the WD locus (WND)...
- Characterization of nuclear proteome in normal and diseased liverSvetlana Lutsenko; Fiscal Year: 2007..The disease is caused by mutations in the gene ATP7B, which encodes the copper-transporting P-type ATPase, or Wilson disease protein (WNDP)...
- INHERITED DISORDERS OF COPPER TRANSPORTJane Gitschier; Fiscal Year: 2002..transported across a membrane for incorporation into other proteins or for export by the Menkes (MNK) and Wilson (WND) disease gene products...
- Mammalian Lactoferrin Receptors: Structure and FunctionBo Lonnerdal; Fiscal Year: 2007..Overall, our understanding of the physiological significance of Lf and its receptor will be increased. ..
- NUTRITIONAL COPPER STATUS AND THE NERVOUS SYSTEMJOSEPH ROBERT PROHASKA; Fiscal Year: 2010..AIM 4: We will test the hypothesis that limitation in Cu-dependent ferroxidases lead to lower brain iron and are responsible by comparing rats reared on an iron-fortified diet to restore brain iron. ..
- Development of an additive model to study the significance of heat-labile and heaWeiping Zhang; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- Pathogenesis of EAST1 toxin in ETEC associated diarrhea diseaseWeiping Zhang; Fiscal Year: 2008..The determination of virulence significance of EAST1 toxin in diarrheal disease will provide essential information to prevent or control this disease. [unreadable] [unreadable] [unreadable] [unreadable]..
- Aluminum bioavailability from foodsRobert Yokel; Fiscal Year: 2004..abstract_text> ..
- CISPLATIN RESISTANCE DUE TO LOSS OF DNA MISMATCH REPAIRStephen Howell; Fiscal Year: 2005..Thus, it is very likely that the mechanisms underlying the DDP-induced mutagenicity will be of fundamental importance to understanding the genomic instability produced by many types of cellular injury. ..
- ZINC NEUROTOXICITYChristian Sheline; Fiscal Year: 2004....
- The Center for Cancer Drug Development (C2D2)Stephen Howell; Fiscal Year: 2004..abstract_text> ..
- Embryonic Stem Cell Model of Polyglutamine DiseaseMATTHEW LORINCZ; Fiscal Year: 2007..Once the pathologic mechanisms of mutant huntingtin are understood it will become possible to design rational therapeutics. ..
- WANDERING-- BACKROUND AND PROXIMAL FACTORSDonna Algase; Fiscal Year: 2003..abstract_text> ..
- HEPATOBILIARY DISPOSITION IN TOXICOLOGYCurtis Klaassen; Fiscal Year: 2003..abstract_text> ..
- DELIRIUM IN PERSONS WITH DEMENTIADonna Fick; Fiscal Year: 2007..Ultimately, the results from this and subsequent studies should improve the lives of persons with dementia and their caregivers by decreasing delirium-related complications and hospitalizations. [unreadable] [unreadable] [unreadable]..
- Regulation of Mammalian Copper HomeotasisMICHAEL PETRIS; Fiscal Year: 2007..Two copper ATPases, ATP7A and ATP7B, which are normally located in the trans-Golgi network, are stimulated to relocate to cytoplasmic vesicles or the ..
- Ion Selectivity by Heavy Metal Transport ATPasesJOSE ARGUELLO; Fiscal Year: 2002..Results from these studies will help to establish the mechanism of heavy metal binding to carrier proteins and increase our understanding of heavy metal transport. ..
- Trace Element Metabolism: Basic and Applied ResearchMICHAEL PETRIS; Fiscal Year: 2006..These individuals will be encouraged to present posters to be displayed in 2 poster sessions. We also will obtain funds to provide travel awards for up to 10 postdocs or senior graduate students. [unreadable] [unreadable] [unreadable]..
- Targeted Prodrug Therapy of Liver CancersMACUS KUO; Fiscal Year: 2005....
- REGULATION OF MDR GENE EXPRESSION IN LIVER CANCERSMACUS KUO; Fiscal Year: 2004..We hope from this research, which includes in vitro cell culture and in vivo animal and tumor models, to gain important molecular insights into the genetic resolution of drug resistance and hepatocarcinogenesis. ..
- EARLY HUSBANDRY INFLUENCES ON ADULT PHENOTYPEMICHAEL TORDOFF; Fiscal Year: 2009..The results will lead to better environmental controls in future work and, asa direct consequence, easierand more rapid progress with genetic analyses. ..
- Ethical Aspects of Dementia ResearchBetty Black; Fiscal Year: 2005....
- Type-1 Diabetes: Zn2+ Potentiated Beta-Cell Death By Sirtuin-Mediated NAD+ LossCHRISTIAN THOMAS SHELINE; Fiscal Year: 2010..These experiments will test novel therapeutic compounds (pyruvate, sirtinol) and mechanisms (NAD+loss, sirtuins) involved in Zn2+ mediation of beta-cell death in type-1 diabetes. ..
- Genomic Instability and Evolution of Drug ResistanceMACUS KUO; Fiscal Year: 2008..We anticipate from these studies to gain important insights into the function of FSA in the regulation of cell growth and differentiation in normal and malignant epithelial cells. ..
- A device containing immobilized chelator to remove aluminum from TPN solutionsRobert Yokel; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- Regulation of Hepatic Excretion of Xenobiotics by MrpsCurtis D Klaassen; Fiscal Year: 2010..Elucidation of the role of Nrf2 in the regulation of the efflux transport process will have significant ramifications in toxicology, xenobiotics disposition, drug-drug interaction, and cancer chemoprevention. ..
- Coordinate Regulation of Uptake and Efflux TransportersCurtis D Klaassen; Fiscal Year: 2010....
- PHASE III TRIAL OF TETRATHIOMOLYBDATE IN PRIMARY BILIAR*George Brewer; Fiscal Year: 2007..Abstract Not Provided ..
- Assent and Dissent for Dementia ResearchBetty Black; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- Regulation of Mammalian Copper HomeostasisMICHAEL PETRIS; Fiscal Year: 2008..This research will shed light on the importance of copper in the pathogenesis of Alzheimer's disease, and whether the availability of this nutrient should be investigated in therapeutic strategies. ..
- Redox Regulation of Multidrug Resistance Gene ExpressionMACUS KUO; Fiscal Year: 2009..We hope from these studies to learn the molecular bases of redox conditions that affect drug sensitivity through the regulation of their respective drug resistance gene expression. ..
- Environmental Hormones: Effects on Thyroid FunctionCurtis Klaassen; Fiscal Year: 2005..abstract_text> ..