Research Topics
Genomes and Genes | ANK2SummaryGene Symbol: ANK2 Description: ankyrin 2, neuronal Alias: ANK-2, LQT4, brank-2, ankyrin B, ankyrin, brain, ankyrin-2, ankyrin-2, nonerythrocytic, non-erythroid ankyrin Species: human Top Publications
Research Grants
| Scientific Experts
|
Detail Information
Publications
Inositol 1,4,5-trisphosphate receptor localization and stability in neonatal cardiomyocytes requires interaction with ankyrin-BPeter J Mohler
Howard Hughes Medical Institute and Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA
J Biol Chem 279:12980-7. 2004..These new results provide the first physiological evidence of a molecular partner required for early post-translational stability of InsP(3)R...- Binding of an ankyrin-1 isoform to obscurin suggests a molecular link between the sarcoplasmic reticulum and myofibrils in striated musclesPaola Bagnato
Molecular Medicine Section, Department of Neuroscience, University of Siena, 53100 Siena, Italy
J Cell Biol 160:245-53. 2003..5 is present in the ank2.2 isoform, which in striated muscles has been also shown to associate with the sarcoplasmic reticulum... - Ankyrin B modulates the function of Na,K-ATPase/inositol 1,4,5-trisphosphate receptor signaling microdomainXiao Liu
Department of Woman and Child Health, Karolinska Institutet, Astrid Lindgren Children s Hospital, Q2 09, SE 171 76 Stockholm, Sweden
J Biol Chem 283:11461-8. 2008..Downstream effects include NF-kappaB activation. Here we report that ankyrin B (Ank-B), expressed in most mammalian cells, plays a pivotal role in the function of the Na,K-ATPase/IP3R .. - The ankyrin-B C-terminal domain determines activity of ankyrin-B/G chimeras in rescue of abnormal inositol 1,4,5-trisphosphate and ryanodine receptor distribution in ankyrin-B (-/-) neonatal cardiomyocytesPeter J Mohler
Howard Hughes Medical Institute and Department of Cell Biology, Duke University Medical Center, Durham, North Carolina 27710, USA
J Biol Chem 277:10599-607. 2002..C-terminal domains are the most divergent between ankyrin isoforms and are candidates to encode the signal(s) that enable ankyrins to selectively target proteins to diverse cellular sites... - Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac deathPeter J Mohler
Howard Hughes Medical Institute and Departments of Cell Biology, Biochemistry, and Neuroscience, Duke University Medical Center, Durham, North Carolina 27710, USA
Nature 421:634-9. 2003..We report here that a loss-of-function (E1425G) mutation in ankyrin-B (also known as ankyrin 2), a member of a family of versatile membrane adapters, causes dominantly inherited type 4 long-QT cardiac .. - Plasma membrane-cytoskeleton-endoplasmic reticulum complexes in neurons and astrocytesLubomira Lencesova
Department of Physiology, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA
J Biol Chem 279:2885-93. 2004..The adaptor protein, ankyrin 2 (Ank 2), and the cytoskeletal proteins, alpha-fodrin and beta-spectrin, also selectively co-immunoprecipitated .. - Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytesPeter J Mohler
Department of Internal Medicine, University of Iowa College of Medicine, Iowa City, USA
Circulation 115:432-41. 2007Mutations in the ankyrin-B gene (ANK2) cause type 4 long-QT syndrome and have been described in kindreds with other arrhythmias... - A cardiac arrhythmia syndrome caused by loss of ankyrin-B functionPeter J Mohler
Howard Hughes Medical Institute and Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA
Proc Natl Acad Sci U S A 101:9137-42. 2004.... - Ankyrin-B coordinates the Na/K ATPase, Na/Ca exchanger, and InsP3 receptor in a cardiac T-tubule/SR microdomainPeter J Mohler
Department of Pathology, Vanderbilt University, Nashville, Tennessee, USA
PLoS Biol 3:e423. 2005..Ankyrin-B also is not abundantly expressed in smooth muscle. We propose that the ankyrin-B-based complex is a specialized adaptation of cardiomyocytes with a role for cytosolic Ca2+ modulation... - Nervous system defects of AnkyrinB (-/-) mice suggest functional overlap between the cell adhesion molecule L1 and 440-kD AnkyrinB in premyelinated axonsP Scotland
Howard Hughes Medical Institute, Departments of Cell Biology, Duke University Medical Center, Durham, North Carolina 27710, USA
J Cell Biol 143:1305-15. 1998..These findings provide the first evidence for a role of ankyrinB in the nervous system and support an interaction between 440-kD ankyrinB and L1 that is essential for maintenance of premyelinated axons in vivo... - Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genesE Otto
Howard Hughes Medical Institute, Duke University Medical Center, Durham, North Carolina 27710
J Cell Biol 114:241-53. 1991..The brain ankyrin 2 cDNA sequence includes a stop codon and encodes a polypeptide with a predicted molecular mass of 202 kD, which .. - Targeting and stability of Na/Ca exchanger 1 in cardiomyocytes requires direct interaction with the membrane adaptor ankyrin-BShane R Cunha
Department of Internal Medicine, Division of Cardiology, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 282:4875-83. 2007..These results raise exciting new questions regarding potentially dynamic roles for ankyrin proteins in the biogenesis and maintenance of specialized membrane domains in excitable cells... - Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjectsJonathan Sherman
Mayo Medical School, 200 First Street SW, Rochester, MN 55905, USA
Heart Rhythm 2:1218-23. 2005Mutations in ANK2-encoded ankyrin-B underlie long QT syndrome type 4 (LQT4) and various other dysrhythmia phenotypes. - Mapping of a gene for long QT syndrome to chromosome 4q25-27J J Schott
Laboratoire de Physiopathologie et Pharmacologie Cellulaires et Moléculaires, URA CNRS 1340, CHU de Nantes, France
Am J Hum Genet 57:1114-22. 1995..A maximal LOD score of 7.05 was found for marker D4S402. The identification of a fourth locus for LQTS confirms its genetic heterogeneity. Locus 4q25-27 is associated with a peculiar phenotype within the LQTS entity... - Ankyrin-B is required for intracellular sorting of structurally diverse Ca2+ homeostasis proteinsS Tuvia
Howard Hughes Medical Institute and Departments of Cell Biology and Biochemistry, Duke University Medical Center, Durham, North Carolina 27710, USA
J Cell Biol 147:995-1008. 1999..Similar mechanisms involving ankyrins may be essential for segregation of functionally defined proteins within specialized regions of the plasma membrane and within the Ca(2+) homeostasis compartment of the ER... - Regulating ankyrin dynamics: Roles of sigma-1 receptorsT Hayashi
Cellular Pathobiology Unit, Cellular Neurobiology Research Branch, Intramural Research Program, National Institute on Drug Abuse National Institutes of Health, 5500 Nathan Shock Drive, Baltimore, MD 21224, USA
Proc Natl Acad Sci U S A 98:491-6. 2001..proteins that bind certain steroids, neuroleptics, and psychotropic drugs, form a trimeric complex with ankyrin B and IP(3)R type 3 (IP(3)R-3) in NG-108 cells... - Isolation and chromosomal localization of a novel nonerythroid ankyrin geneW T Tse
Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut 06510
Genomics 10:858-66. 1991..1991), suggesting that the genomic clone is part of a gene for nonerythroid ankyrin, which we have designated ANK2. By analysis of somatic cell hybrids and fluorescence in situ hybridization, we assigned ANK2 to human chromosome 4 .. - 440-kD ankyrinB: structure of the major developmentally regulated domain and selective localization in unmyelinated axonsW Chan
Howard Hughes Medical Institute, Duke University Medical Center, Durham, North Carolina 27710
J Cell Biol 123:1463-73. 1993..440-kD ankyrinB thus is a specific component of unmyelinated axons and expression of 440-kD ankyrinB may be downregulated as a consequence of myelination... - Indispensable role for the eukaryotic-like ankyrin domains of the ankyrin B effector of Legionella pneumophila within macrophages and amoebaeChristopher T D Price
Department of Microbiology and Immunology, College of Medicine, University of Louisville, Louisville, KY 40202, USA
Infect Immun 78:2079-88. 2010The Dot/Icm-translocated ankyrin B (AnkB) effector of Legionella pneumophila exhibits molecular mimicry of eukaryotic F-box proteins and is essential for intracellular replication in macrophages and protozoa... - Modulation of p53 activity by IkappaBalpha: evidence suggesting a common phylogeny between NF-kappaB and p53 transcription factorsDavid H Dreyfus
Division of Basic Sciences, Department of Pediatrics, National Jewish Medical Research Center, Denver, CO 80262 USA
BMC Immunol 6:12. 2005..Interactions between the two proteins, both direct and indirect, have been noted previously and the two proteins play central roles in the control of proliferation and apoptosis... - Ankyrin-based targeting pathway regulates human sinoatrial node automaticityThomas J Hund
Department of Internal Medicine, Division of Cardiovascular Medicine, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
Channels (Austin) 2:404-6. 2008..Ankyrin-B deficient mice displayed bradycardia and heart rate variability similar to individuals harboring an ANK2 variant... - Ankyrin-based cardiac arrhythmias: a new class of channelopathies due to loss of cellular targetingPeter J Mohler
Department of Pathology, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Curr Opin Cardiol 20:189-93. 2005..The focus is on ankyrins, a family of proteins that localize diverse membrane ion channels and transporters, and recent evidence that mutations affecting functions of ankyrins result in cardiac arrhythmia... - Ankyrin-independent membrane protein-binding sites for brain and erythrocyte spectrinJ P Steiner
Howard Hughes Medical Institute, Durham, North Carolina
J Biol Chem 263:14417-25. 1988..This flexibility has implications for assembly of the membrane skeleton and targeting of spectrin isoforms to specialized regions of cells... - Ankyrin and beta-spectrin accumulate independently of alpha-spectrin in DrosophilaR R Dubreuil
Department of Pharmacological and Physiological Sciences, University of Chicago, IL 60637
Proc Natl Acad Sci U S A 91:10285-9. 1994..The cDNA sequence encodes a 170-kDa protein that is 53% identical to human brain ankyrin (Ank2)... - Regulation of the ankyrin-B-based targeting pathway following myocardial infarctionThomas J Hund
Department of Internal Medicine, Division of Cardiovascular Medicine, University of Iowa Carver College of Medicine, 285 Newton Road, CBRB 2283, Iowa City, IA 52242, USA
Cardiovasc Res 81:742-9. 2009..Despite a wealth of knowledge implicating the importance of AnkB in human cardiovascular physiology, nothing is known regarding the role of AnkB in common forms of acquired human disease... - Folding mechanism of an ankyrin repeat protein: scaffold and active site formation of human CDK inhibitor p19(INK4d)Christian Löw
Institut fur Physik, Biophysik, and Mitteldeutsches Zentrum für Struktur und Dynamik der Proteine MZP, Martin Luther Universitat Halle Wittenberg, D 06120 Halle Saale, Germany
J Mol Biol 373:219-31. 2007..that during refolding, repeats ANK3-ANK5 first form the scaffold for the subsequent assembly of repeats ANK1 and ANK2. The binding function of p19(INK4d) resides in the latter repeats... - Abnormal cardiac Na(+) channel properties and QT heart rate adaptation in neonatal ankyrin(B) knockout miceV S Chauhan
Division of Cardiology, Duke University Medical Center, Durham, NC 27710 3504, USA
Circ Res 86:441-7. 2000..In conclusion, Na(+) channels in ankyrin(B)(-/-) display reduced I(Na) density and abnormal kinetics at the whole-cell and single-channel level that contribute to prolonged APD(90) and abnormal QT-rate adaptation... - Cardiac ankyrins in health and diseaseSeyed M Hashemi
Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, IA, USA
J Mol Cell Cardiol 47:203-9. 2009..Loss-of-function variants in the ankyrin-B gene (ANK2) cause "ankyrin-B syndrome" (previously called type 4 long QT syndrome), manifested by a complex cardiac .. - Cholinergic augmentation of insulin release requires ankyrin-BJane A Healy
1Howard Hughes Medical Institute, Duke University Medical Center, Durham, NC 27710, USA
Sci Signal 3:ra19. 2010..Thus, defective glycemic regulation through loss of ankyrin-B-dependent stabilization of IP3R is a potential risk factor for type 2 diabetes... - Ankyrin-B is required for coordinated expression of beta-2-spectrin, the Na/K-ATPase and the Na/Ca exchanger in the inner segment of rod photoreceptorsKrishnakumar Kizhatil
Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA
Exp Eye Res 88:57-64. 2009..These results are consistent with a mechanism where ankyrin-B is required to restrict the Na/K-ATPase and Na/Ca exchanger to the inner segment of rod photoreceptors by tethering these membrane proteins to beta-2-spectrin... - Ankyrins and human disease: what the electrophysiologist should knowPeter J Mohler
Department of Internal Medicine, University of Iowa College of Medicine, Iowa City, Iowa 52242, USA
J Cardiovasc Electrophysiol 17:1153-9. 2006..Human ANK2 mutations are associated with "ankyrin-B syndrome" (an atypical arrhythmia syndrome with risk of sudden .. - Lateral membrane biogenesis in human bronchial epithelial cells requires 190-kDa ankyrin-GKrishnakumar Kizhatil
Howard Hughes Medical Institute and Departments of Cell Biology, Biochemistry, and Neuroscience, Duke University Medical Center, Durham, North Carolina 27710, USA
J Biol Chem 279:16706-14. 2004..Moreover, analysis of rat 190-kDa ankyrin G/ankyrin B chimeras shows that all three domains of 190-kDa ankyrin-G are required for preservation of the lateral membrane... - Ankyrin-G regulates inactivation gating of the neuronal sodium channel, Nav1.6Emi Shirahata
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
J Neurophysiol 96:1347-57. 2006..6. These results suggest that ankyrin-G regulates neuronal excitability not only through clustering Nav channels but also by directly modifying their channel gating... - Molecular mimicry by an F-box effector of Legionella pneumophila hijacks a conserved polyubiquitination machinery within macrophages and protozoaChristopher T Price
Department of Microbiology and Immunology, College of Medicine, University of Louisville, Kentucky, USA
PLoS Pathog 5:e1000704. 2009..b>Ankyrin B (AnkB) of L... - New mutations in the KVLQT1 potassium channel that cause long-QT syndromeH Li
Lillie Frank Abercrombie Section of Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, Tex 77030, USA
Circulation 97:1264-9. 1998..Four genes for LQTS have been mapped to chromosome 11p15.5 (LQT1), 7q35-36 (LQT2), 3p21-24 (LQT3), and 4q25-27 (LQT4)... - The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 geneM H van den Berg
Division of Genetics, University Maastricht, The Netherlands
Hum Genet 100:356-61. 1997..5 (LQT1), 7q35-36 (LQT2), 3p21-24 (LQT3) and 4q25-26 (LQT4)... - Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8S H Blanton
Graduate School of Biomedical Sciences, University of Texas Health Science Center, Houston 77030
Genomics 11:857-69. 1991..Thus mutations at two different loci, at least, have been shown to cause ADRP. There is no remarkable clinical disparity in the expression of disease caused by these different loci... - The role of L1 in axon pathfinding and fasciculationA E Wiencken-Barger
Department of Cell and Developmental Biology, Vanderbilt University, Nashville, TN, USA
Cereb Cortex 14:121-31. 2004..expression of ankyrin-B, an intracellular L1 binding partner, suggesting that L1 is involved in the regulation of Ank2 stability... - The cell adhesion molecule L1 controls growth cone navigation via ankyrin(B)-dependent modulation of cyclic AMPNoriko Ooashi
Laboratory for Neuronal Growth Mechanisms, RIKEN Brain Science Institute, 2 1 Hirosawa, Wako, Saitama 351 0198, Japan
Neurosci Res 63:224-6. 2009..These results indicate that ankyrin(B) regulates axon guidance via cyclic AMP... - Inhibition of ankyrin-B expression reduces growth and invasion of human pancreatic ductal adenocarcinomaYing Chen
Clinical Cooperation Unit Molecular Gastroenterology G350, DKFZ, Heidelberg, Germany
Pancreatology 10:586-96. 2010..Ankyrin-B (ANK2) was identified as being overexpressed in PDAC in a previous study by our group... - Characterization of an IkappaB-like gene in Cotesia vestalis polydnavirusYa Feng Chen
Institute of Insect Sciences, Zhejiang University, Hangzhou, China
Arch Insect Biochem Physiol 68:71-8. 2008..In the present work, we cloned the full sequence of gene CvBV-ank2, encoding an IkappaB-like protein in C. vestalis polydnavirus (CvBV)... - Copy number and gene expression alterations in radiation-induced papillary thyroid carcinoma from chernobyl pediatric patientsLeighton Stein
Roswell Park Cancer Institute, Department of Cancer Genetics, Buffalo, New York, USA
Thyroid 20:475-87. 2010..We have used two high-throughput, whole genome platforms to analyze radiation-induced PTCs from pediatric patients from the Chernobyl region... - Na,K-ATPase generates calcium oscillations in hippocampal astrocytesXiao Li Liu
Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden
Neuroreport 18:597-600. 2007..Thus, the specific Na,K-ATPase ligand ouabain induced inositol 1,4,5-trisphosphate receptor-dependent calcium oscillations in hippocampal astrocytes, which mediates nuclear factor-kappaB activation... - Characterization of quantitative trait loci for the age of first foraging in honey bee workersOlav Rueppell
Department of Biology, University of North Carolina at Greensboro, 1000 Spring Garden Street, Greensboro, NC, 27403, USA
Behav Genet 39:541-53. 2009..Among the positional candidates the Ank2, PKC, Erk7, and amontillado genes stand out due to corroborating functional evidence... - Reassembly of contractile actin cortex in cell blebsGuillaume T Charras
Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA
J Cell Biol 175:477-90. 2006..Cytochalasin D blocked recruitment of actin and alpha-actinin, but had no effect on membrane association of ankyrin B and ezrin. Ezrin played no role in actin nucleation, but was essential for tethering the membrane to the cortex... - Major quantitative trait locus for resting heart rate maps to a region on chromosome 4Lisa J Martin
Department of Pediatrics, Center for Epidemiology and Biostatistics, Cincinnati Children s Hospital Medical Center, Mail Code 5041, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA
Hypertension 43:1146-51. 2004..This signal is in the same region as a quantitative trait locus (QTL) for long QT syndrome 4 and a QTL for heart rate in rats. Within the 1-LOD unit support interval, there are 2 strong candidates: ankyrin-B and myozenin 2... - Structure of the ZU5-ZU5-UPA-DD tandem of ankyrin-B reveals interaction surfaces necessary for ankyrin functionChao Wang
Division of Life Science, State Key Laboratory of Molecular Neuroscience, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong
Proc Natl Acad Sci U S A 109:4822-7. 2012..Finally, the structure of the ankyrin ZZUD provides mechanistic explanations to many disease-causing mutations identified in ankyrin-B&R... - Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28Rinki Ratnapriya
Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore 560064, India
Hum Genet 126:677-83. 2009..The critical genetic interval spans 22.5 cM and corresponds to about 24 megabases of DNA. The genes NEUROG2, ANK2, UGT8 and CAMK2D, which are known to be expressed in human brain, are strong positional candidates and we propose .. - Proteolysis of erythrocyte-type and brain-type ankyrins in rat heart after postischemic reperfusionK Yoshida
Department of Legal Medicine, Yamaguchi University School of Medicine, Ube
J Biochem 122:279-85. 1997..The proteolysis of ankyrin(R) may interfere with force conduction through disruption of the linkage between integral membrane proteins and the myofibril-cytoskeleton... - Common genetic variants in ANK2 modulate QT interval: results from the KORA studyKamil Sedlacek
Klinik und Poliklinik fur Innere Medizin II, Universitatsklinikum Regensburg, Regensburg, Germany
Circ Cardiovasc Genet 1:93-9. 2008..Given its important role in cardiac electrophysiology, we hypothesized that common genetic variation in ankyrin-B gene (ANK2) might modify QT interval length. - Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. OnlineJ Benhorin
Heiden Department of Cardiology, Bikur Cholim Hospital, Jerusalem, Israel
Hum Mutat 12:72. 1998..be caused by mutations in four genes LTQ1, LQT2, LQT3 and LQT5, and linkage was reported for an additional locus, LQT4, on chromosome 4q25-27... - Dual role of K ATP channel C-terminal motif in membrane targeting and metabolic regulationCrystal F Kline
Department of Internal Medicine, Division of Cardiology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
Proc Natl Acad Sci U S A 106:16669-74. 2009..Thus, the K(ATP) channel ABM serves as a previously unrecognized bifunctional touch-point for grading K(ATP) channel gating and membrane targeting and may play a fundamental role in controlling excitable cell metabolic regulation... - Proteomics analysis reveals novel components in the detergent-insoluble subproteome in Alzheimer's diseaseYair M Gozal
Department of Neurology, Emory University, Atlanta, Georgia 30322, USA
J Proteome Res 8:5069-79. 2009..In addition, we identified and validated the presence of serine protease 15, ankyrin B, and 14-3-3 eta in the detergent-insoluble fraction... - The effect of the vaccinia K1 protein on the PKR-eIF2alpha pathway in RK13 and HeLa cellsKristen L Willis
Department of Microbiology, College of Medicine, University of Illinois at Urbana Champaign, 601 S Goodwin Avenue, Urbana, IL 61801, USA
Virology 394:73-81. 2009..Residues in the C-terminal portion of the ANK2 region of K1 were identified as necessary for this inhibitory phenotype... - Obscurin determines the architecture of the longitudinal sarcoplasmic reticulumStephan Lange
Department of Medicine, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA
J Cell Sci 122:2640-50. 2009..Finally, obscurin knockout mice display centralized nuclei in skeletal muscles as a sign of mild myopathy, but have normal sarcomeric structure and preserved muscle function... - Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmiasWilliam S Bush
Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN, USA
Pharmacogenomics 10:1043-53. 2009..Here, we report an evaluation of the variation and haplotype structure in six key components of the rhythmonome... - Ank3 (epithelial ankyrin), a widely distributed new member of the ankyrin gene family and the major ankyrin in kidney, is expressed in alternatively spliced forms, including forms that lack the repeat domainL L Peters
Division of Hematology Oncology, Children s Hospital, Boston, Massachusetts 02115, USA
J Cell Biol 130:313-30. 1995..The Ank3 gene maps to mouse Chromosome 10, approximately 36 cM from the centromere, a locus distinct from Ank1 and Ank2. Ank3 is the major kidney ankyrin. Multiple transcripts of approximately 7.5, 6.9, 6.3, 5.7, 5.1, and 4... - The Na(+)/Ca(2+)-exchanger: an essential component in the mechanism governing cardiac steroid-induced slow Ca(2+) oscillationsTomer Feldmann
The Kuvin Center for the Study of Infectious and Tropical Diseases, Department of Microbiology and Molecular Genetics, Institute for Medical Research Israel Canada, The Hebrew University Hadassah Medical School, Jerusalem, Israel
Cell Calcium 50:424-32. 2011..by enhancing the interactions between Na(+), K(+)-ATPase, inositol 1,4,5-trisphosphate receptor (IP(3)R) and Ankyrin B (Ank-B) to form a Ca(2+) signaling micro-domain... - Periaxin is required for hexagonal geometry and membrane organization of mature lens fibersRupalatha Maddala
Department of Ophthalmology, Duke University School of Medicine, NC, USA
Dev Biol 357:179-90. 2011..Hence, there may be functional parallels between the roles of Prx in membrane stabilization of the myelin sheath and the lens fiber cell... - Molecular Characterization of Exploitation of the Polyubiquitination and Farnesylation Machineries of Dictyostelium Discoideum by the AnkB F-Box Effector of Legionella PneumophilaTasneem Al-Quadan
Department of Microbiology and Immunology, College of Medicine, University of Louisville Louisville, KY, USA
Front Microbiol 2:23. 2011The Dot/Icm-translocated Ankyrin B (AnkB) F-box effector of Legionella pneumophila is essential for intra-vacuolar proliferation and functions as a platform for the docking of polyubiquitinated proteins to the Legionella-containing .. - Beyond membrane channelopathies: alternative mechanisms underlying complex human diseaseKonstantinos Dean Boudoulas
The Dorothy M Davis Heart and Lung Research Institute, Ohio State University Medical Center, Columbus, OH 43210, USA
Acta Pharmacol Sin 32:798-804. 2011..cardiac arrhythmias has been linked with cytoplasmic proteins that include sub-membrane adapters such as ankyrin-B (ANK2), ankyrin-G (ANK3), and alpha-1 syntrophin, membrane coat proteins including caveolin-3 (CAV3), signaling platforms .. - NCI60 cancer cell line panel data and RNAi analysis help identify EAF2 as a modulator of simvastatin and lovastatin response in HCT-116 cellsSevtap Savas
Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada
PLoS ONE 6:e18306. 2011..testing using False Discovery Rate, our results identified three genes (NRP1, COL13A1, MRPS31) and six genes (EAF2, ANK2, AKAP7, STEAP2, LPIN2, PARVB) associated with resistance to simvastatin and lovastatin, respectively... - LQTS gene LOVD databaseTao Zhang
James D Watson Institute of Genome Sciences, College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China
Hum Mutat 31:E1801-10. 2010..Many other genes involved in LQTS have been described recently(KCNJ2, AKAP9, ANK2, CACNA1C, SCNA4B, SNTA1, and CAV3). We created an online database(http://www.genomed.org/LOVD/introduction... - Defining new insight into atypical arrhythmia: a computational model of ankyrin-B syndromeRoseanne M Wolf
Department of Internal Medicine, Division of Cardiovascular Medicine, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
Am J Physiol Heart Circ Physiol 299:H1505-14. 2010..These findings provide important insights into the molecular mechanisms underlying a human disease and are relevant for acquired human arrhythmia, where ankyrin-B dysfunction has recently been identified... - Exploitation of conserved eukaryotic host cell farnesylation machinery by an F-box effector of Legionella pneumophilaChristopher T D Price
Department of Microbiology and Immunology, School of Medicine and 2 Department of Biology, University of Louisville, Louisville, KY 40292, USA
J Exp Med 207:1713-26. 2010..The Dot/Icm type IV secretion system of Legionella pneumophila injects into host cells the F-box effector Ankyrin B (AnkB), which functions as platforms for the docking of polyubiquitinated proteins to the Legionella-containing .. - Ankyrin-B regulates Kir6.2 membrane expression and function in heartJingdong Li
Division of Cardiovascular Medicine, Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 285:28723-30. 2010..Collectively, our new findings define a new role for cardiac ankyrin polypeptides in regulation of ion channel membrane expression in heart... - Transgene rescue identifies an essential function for Drosophila beta spectrin in the nervous system and a selective requirement for ankyrin-2-binding activityG Harper Mazock
Department of Biological Sciences and Laboratory for Molecular Biology, University of Illinois at Chicago, Chicago, IL 60607, USA
Mol Biol Cell 21:2860-8. 2010..Domain swap experiments here uncovered a different requirement for neuronal DAnk2 binding to spectrin and establish that DAnk2-binding is critical for beta spectrin function in vivo... - Proteolysis of submembrane cytoskeletal proteins ankyrin-G and ?II-spectrin following diffuse brain injury: a role in white matter vulnerability at Nodes of RanvierThomas M Reeves
Department of Anatomy and Neurobiology, School of Medicine, Virginia Commonwealth University Medical Center, Richmond, VA, USA
Brain Pathol 20:1055-68. 2010..The time course of such changes were comparable to previously observed functional deficits in callosal fibers... - Functional anatomy of the murine sinus node: high-resolution optical mapping of ankyrin-B heterozygous miceAlexey V Glukhov
Department of Biomedical Engineering, Washington Univ in St Louis, St Louis, MO 63130, USA
Am J Physiol Heart Circ Physiol 299:H482-91. 2010..from the ankyrin-B (AnkB)-deficient mice display severe pacemaking dysfunction similar to individuals harboring ankyrin 2 allele variants... - Associations of human erythrocyte band 4.2. Binding to ankyrin and to the cytoplasmic domain of band 3C Korsgren
Department of Biomedical Research, St Elizabeth s Hospital, Boston, Massachusetts 02135
J Biol Chem 263:10212-8. 1988..2 with band 4.1. Our results show that band 4.2 can form multiple associations with red cell membrane proteins and may therefore play an as yet unrecognized structural role on the membrane... - Gene transfer to ankyrin-deficient bone marrow corrects spherocytosis in vitroG J Dooner
Cancer Center and Gene Therapy Link Laboratory, University of Massachusetts Medical School, Worcester, USA
Exp Hematol 28:765-74. 2000.... - Targeted ablation of NrCAM or ankyrin-B results in disorganized lens fibers leading to cataract formationM I Moré
Max Delbruck Center for Molecular Medicine, Robert Rossle Strasse 10, D 13092 Berlin, Germany
J Cell Biol 154:187-96. 2001..Also, these studies provide genetic evidence of an interaction between NrCAM and ankyrin-B... - Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndromeAnant Khositseth
Department of Pediatric and Adolescent Medicine Division of Pediatric Cardiology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
Heart Rhythm 1:60-4. 2004..The aim of this study was to elucidate the genetic basis for long QT syndrome (LQTS) in patients with a personal or family history of postpartum cardiac events... - Sodium channel Scn1b null mice exhibit prolonged QT and RR intervalsLuis F Lopez-Santiago
Department of Pharmacology, University of Michigan, 1301 MSRB III, Ann Arbor, MI 48109 0632, USA
J Mol Cell Cardiol 43:636-47. 2007..Together, these results suggest that beta1 is critical for normal cardiac excitability and loss of beta1 may be associated with a long QT phenotype... - Discovery of tissue-specific exons using comprehensive human exon microarraysTyson A Clark
Affymetrix, Inc, Santa Clara, CA 95051, USA
Genome Biol 8:R64. 2007..Large-scale methods for monitoring gene expression must adapt in order to accurately detect the transcript variation generated by this splicing... - Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndromeJ Zehelein
Innere Medizin III, Universitätsklinik Heidelberg, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany
Biochim Biophys Acta 1690:185-92. 2004.... - Isoform specificity among ankyrins. An amphipathic alpha-helix in the divergent regulatory domain of ankyrin-b interacts with the molecular co-chaperone Hdj1/Hsp40Peter J Mohler
Howard Hughes Medical Institute and Departments of Cell Biology, Biochemistry, and Neurosciences, Duke University Medical Center, Durham, North Carolina 27710, USA
J Biol Chem 279:25798-804. 2004.... - Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genesAmy R Mank-Seymour
Pharmacogenomics, Molecular Profiling, Groton, CT, USA
Am Heart J 152:1116-22. 2006..This study was designed to better understand the role of genetics in the development of TdP and to determine whether genotypes can be used to predict susceptibility and thus reduce adverse events... - Ankyrin-G and beta2-spectrin collaborate in biogenesis of lateral membrane of human bronchial epithelial cellsKrishnakumar Kizhatil
Howard Hughes Medical Institute and Departments of Cell Biology, Biochemistry, and Neurobiology, Duke University Medical Center, Durham, North Carolina 27710, USA
J Biol Chem 282:2029-37. 2007..These results demonstrate that ankyrin-G and beta(2)-spectrin are functional partners in biogenesis of the lateral membrane of epithelial cells... - Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndromeMatteo Vatta
Department of Pediatrics Cardiology, Baylor College of Medicine, Texas Children s Hospital, Houston, TX 77030, USA
Circulation 114:2104-12. 2006..All 8 LQTS genotypes represent primary cardiac channel defects (ie, ion channelopathy) except LQT4, which is a functional channelopathy because of mutations in ankyrin-B... - Molecular basis for PP2A regulatory subunit B56alpha targeting in cardiomyocytesNaina Bhasin
Department of Internal Medicine, Division of Cardiology, University of Iowa Carver College of Medicine, 285 Newton Road, Iowa City, IA 52242, USA
Am J Physiol Heart Circ Physiol 293:H109-19. 2007..These new data implicate ankyrin-B as a critical targeting component for PP2A in heart and identify a new class of signaling proteins targeted by ankyrin polypeptides... - Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescencePeter J Mohler
Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, Iowa, United States of America
PLoS ONE 2:e1051. 2007Here we report the unexpected finding that specific human ANK2 variants represent a new example of balanced human variants... - MAP kinase pathway-dependent phosphorylation of the L1-CAM ankyrin binding site regulates neuronal growthJohn D Whittard
Department of Pharmacology and Biological Chemistry, Mt Sinai School of Medicine, New York, NY 10029, USA
Mol Biol Cell 17:2696-706. 2006..pathway regulates the phosphorylation of the FIGQY motif in the adhesion protein L1-CAM and its interaction with ankyrin B. MAP kinase pathway inhibitors block L1-CAM-mediated neuronal growth... - Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrinVann Bennett
Howard Hughes Medical Institute, Duke University Medical Center, Durham, NC 27710, USA
Trends Mol Med 14:28-36. 2008..Together, these studies identify an emerging paradigm for pathogenesis of human disease where failure in cellular localization of membrane-spanning proteins results in loss of physiological function... - Strategy for a genetic assessment of antipsychotic and antidepressant-related proarrhythmiaAntonio Drago
Institute of Psychiatry, University of Bologna, Viale Carlo Pepoli, 5, 40123 Bologna BO, Italy
Curr Med Chem 15:2472-517. 2008..So far, a number of genes have been associated with arrhythmia: SCN5A, SCN4B, CACNL1AC, KCNH2, KCNQ1, KCNE1, ANK2, ALG10, KCNJ2, KCNE2, RYR2, KCND3, KCND2, ACE, NOS1AP, CASQ2 and Rad... - Catecholaminergic polymorphic ventricular tachycardiaJohnson Francis
Department of Cardiology, Medical College Calicut, Kerala, India
Heart Rhythm 2:550-4. 2005..As there is a chance for sudden cardiac death if even a single dose of beta-blocker is missed, there is a trend toward implantation of defibrillators in more and more patients... - L1-mediated branching is regulated by two ezrin-radixin-moesin (ERM)-binding sites, the RSLE region and a novel juxtamembrane ERM-binding regionLing Cheng
Department of Neurosciences, Case Western Reserve University, Cleveland, Ohio 44106, USA
J Neurosci 25:395-403. 2005..These data are consistent with a model in which L1 can influence L1-mediated neurite outgrowth and branching through both the L1CD and a coreceptor... - Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testingDavid J Tester
Department of Molecular Pharmacology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
Heart Rhythm 3:800-5. 2006..Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium release channel and in CASQ2-encoded calsequestrin cause catecholaminergic polymorphic ventricular tachycardia (CPVT1 and CPVT2, respectively)... - Role of sigma-1 receptor C-terminal segment in inositol 1,4,5-trisphosphate receptor activation: constitutive enhancement of calcium signaling in MCF-7 tumor cellsZhiping Wu
Department of Molecular Pharmacology, Physiology and Biotechnology, Division of Biology and Medicine, Brown University, Providence, Rhode Island 02912, USA
J Biol Chem 283:28198-215. 2008..1,4,5-trisphosphate (IP3)-dependent calcium release from endoplasmic reticulum by inducing dissociation of ankyrin B 220 (ANK 220) from the IP3 receptor (IP3R-3), releasing it from inhibition... - Drosophila ankyrin 2 is required for synaptic stabilityIris Koch
Max Planck Institute for Developmental Biology, Department III Genetics, Spemannstrasse 35, 72076 Tubingen, Germany
Neuron 58:210-22. 2008..In a mutagenesis screen for regulators of synaptic stability, we recovered mutations in Drosophila ankyrin 2 (ank2) affecting two giant Ank2 isoforms that are specifically expressed in the nervous system and associate .. - A presynaptic giant ankyrin stabilizes the NMJ through regulation of presynaptic microtubules and transsynaptic cell adhesionJan Pielage
Department of Biochemistry and Biophysics, University of California, San Francisco, San Francisco, CA 94158 2822, USA
Neuron 58:195-209. 2008..mutations that destabilize the neuromuscular junction, we identified a novel long isoform of Drosophila ankyrin2 (ank2-L)... - Revisiting ankyrin-InsP3 receptor interactions: ankyrin-B associates with the cytoplasmic N-terminus of the InsP3 receptorCrystal F Kline
Department of Internal Medicine, Division of Cardiology, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
J Cell Biochem 104:1244-53. 2008..In summary, our findings demonstrate that the ankyrin-binding site is located on the cytoplasmic face of the InsP(3) receptor, thus validating the feasibility of in vivo ankyrin-InsP(3) receptor interactions... - The ammonium transporter RhBG: requirement of a tyrosine-based signal and ankyrin-G for basolateral targeting and membrane anchorage in polarized kidney epithelial cellsClaude Lopez
INSERM, U665, Institut National de la Transfusion Sanguine, Paris F 75015, France
J Biol Chem 280:8221-8. 2005.... - Analysis of erythrocyte and platelet membrane proteins in various forms of beta-thalassemiaG A Alekperova
Azerbaijan Medical University, Baku 370022, Azerbaijan
Biochemistry (Mosc) 69:748-53. 2004..The content of other protein fractions (alpha-actinin, tubulin, tropomyosin) remained unchanged. Changes in protein fractions of erythrocytes and platelets correlated with severity of clinical manifestation of the disease... - Ankyrin-B targets beta2-spectrin to an intracellular compartment in neonatal cardiomyocytesPeter J Mohler
Howard Hughes Medical Institute, Duke University Medical Center, Durham, North Carolina 27710, USA
J Biol Chem 279:40185-93. 2004..This work also establishes a functional hierarchy in which ankyrin-B determines the localization of beta(2)-spectrin and operates independently of beta(2)-spectrin in its role in organizing membrane-spanning proteins... - Analysis of ankyrin-B gene mutations in patients with long QT syndromeXiang Zhou
Department of Pathophysiology, Southern Medical University, Guangzhou 510515, China
Nan Fang Yi Ke Da Xue Xue Bao 26:901-3, 909. 2006..To identify the ankyrin-B gene mutations that cause long QT syndrome (LQTS) and determine the prevalence of such mutations in Japanese patients with LQTS... - Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of long QT syndromeM Raudenská
Department of Genetics and Molecular Biology, Faculty of Science, Masaryk University, Brno, Czech Republic
Physiol Res 57:857-62. 2008..SCN1B and KCND3 genes encode ion channel proteins, ANK2 gene encodes cytoskeletal protein interacting with ion channels... - Obscurin targets ankyrin-B and protein phosphatase 2A to the cardiac M-lineShane R Cunha
Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
J Biol Chem 283:31968-80. 2008..In summary, our new findings demonstrate that ANK2 is subject to alternative splicing that gives rise to unique polypeptides with diverse roles in cardiac function. - Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac diseaseShane R Cunha
Department of Internal Medicine, Division of Cardiovascular Medicine, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
J Mol Cell Cardiol 45:724-34. 2008..Specifically, decreased expression of ankyrin-B in mice or human mutations in the ankyrin-B gene (ANK2) results in potentially fatal cardiac arrhythmias... - Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node diseaseSolena Le Scouarnec
Institut National de la Sante et de la Recherche Medicale, UMR 915, F 44000 Nantes, France
Proc Natl Acad Sci U S A 105:15617-22. 2008..We mapped two families with highly penetrant and severe SND to the human ANK2 (ankyrin-B/AnkB) locus... - L1-dependent neuritogenesis involves ankyrinB that mediates L1-CAM coupling with retrograde actin flowKazunari Nishimura
Laboratory for Neuronal Growth Mechanisms, Brain Science Institute, RIKEN, 2 1 Hirosawa, Wako, Saitama 351 0198, Japan
J Cell Biol 163:1077-88. 2003..Our results indicate that ankyrinB promotes neurite initiation by acting as a component of the clutch module that transmits traction force generated by F-actin flow to the extracellular substrate via L1-CAM...
Research Grants
- Cellular Basis for Ankyrin-B-Related Cardiac ArrhythmiaTARA RUTLEDGE; Fiscal Year: 2005..The goal of this proposed research is to delineate the ankyrin-B dependent targeting pathways of IP3R, NCX and the NKA to SR/T-tubule junctions in cardiomyocytes. ..
- Nanomechanics of Spiral ProteinsPiotr Marszalek; Fiscal Year: 2009....
- Nanomechanics of Spiral ProteinsPiotr E Marszalek; Fiscal Year: 2010....
- Protein targeting in vertebrate photoreceptorsSheila A Baker; Fiscal Year: 2010..Elucidating the mechanisms controlling these processes is essential for developing therapeutic interventions. ..
- Protein targeting in vertebrate photoreceptorsSheila A Baker; Fiscal Year: 2010..Together, these experiments will provide mechanistic insight into two targeting pathways used to drive membrane proteins specifically to the inner segment plasma membrane. ..
- Hemolytic Anemia: ModelsLUANNE PETERS; Fiscal Year: 2006..There are three known Ank genes, Ank1 (erythroid), Ank2 (brain), and Ank3 (general) with overlapping tissue expression but cell type specific localization and binding ..
- Hemolytic Anemia: ModelsJane Barker; Fiscal Year: 2004..There are three known Ank genes, Ank1 (erythroid), Ank2 (brain), and Ank3 (general) with overlapping tissue expression but cell type specific localization and binding ..
- MINORITY PREDOCTORAL FELLOWSHIP PROGRAMKhadar Abdi; Fiscal Year: 2007..Humans heterozygous for mutations in Ank2 (ankyrin-B) display cardiac arrthymia and sudden death...
- Sodium Ions and Calcium Signaling in Neurons and GliaMordecai P Blaustein; Fiscal Year: 2010..g., part a2 and part a1, and vice-versa), WT and mutated a truncations, and ankyrin B knockout mice will be used to test the hypothesis that ot2and a3 subunits are targeted to PLasmERosomes by ..
- Sodium Ions and Calcium Signaling in Neurons and GliaMordecai Blaustein; Fiscal Year: 2007..g., part a2 and part a1, and vice-versa), WT and mutated a truncations, and ankyrin B knockout mice will be used to test the hypothesis that a2 and a3 subunits are targeted to PLasmERosomes by ..
- Role of spectrin/ankyrin-G complex in myocyte signaling and cardiac excitabilityPeter J Mohler; Fiscal Year: 2011....
- Molecular Mechanisms of Ankyrin-B-based ArrhythmiaPeter J Mohler; Fiscal Year: 2010..Human type 4 long QT syndrome (LQT4) results from loss-of-function mutations in the membrane adapter ankyrin-B (AnkB)...
- Dysfunction in Ankyrin-based Pathways and Human ArrythmiaPETER MOHLER; Fiscal Year: 2009..5 targeting pathway and identification/characterization of ankyrin-G-interacting proteins for effects on ankyrin-G/ Nav1.5 localization and expression. ..
- Dysfunction in Ankyrin-based Pathways and Human ArrythmiaPETER MOHLER; Fiscal Year: 2006..5 targeting pathway and identification/characterization of ankyrin-G-interacting proteins for effects on ankyrin-G/ Nav1.5 localization and expression. ..
- Dysfunction in Ankyrin-based Pathways and Human ArrythmiaPeter J Mohler; Fiscal Year: 2010..5 targeting pathway and identification/characterization of ankyrin-G-interacting proteins for effects on ankyrin-G/ Nav1.5 localization and expression. ..
- Dysfunction in Ankyrin-based Pathways and Human ArrythmiaPETER MOHLER; Fiscal Year: 2007..5 targeting pathway and identification/characterization of ankyrin-G-interacting proteins for effects on ankyrin-G/ Nav1.5 localization and expression. ..
- Molecular Mechanisms of Ankyrin-B-based ArrhythmiaPETER MOHLER; Fiscal Year: 2007..Human type 4 long QT syndrome (LQT4) results from loss-of-function mutations in the membrane adapter ankyrin-B (AnkB)...
- Mutant ZASP in Cytoskeletal Remodeling and ArrhythmiaMatteo Vatta; Fiscal Year: 2006..In addition, little is known about the role of Cypher/ZASP mutations in skeletal muscle, and we have suggested that Cypher/ZASP could be a candidate for orphan forms of muscular dystrophies. ..
- Axolemmal molecular domains and unmyelinated fiber vulnerability in TBIThomas M Reeves; Fiscal Year: 2010..Neuroprotective drugs are also used to alter the course of the functional and structural effects of injury. ..
- Cytoskeletal Basis of Ventricular ArrhythmiasMatteo Vatta; Fiscal Year: 2005..Identifying cytoskeletal mecahnisms involved in malignant arrhythmias, could lead to the design of novel drugs and the employment of therapeutic means, resulting in a better patients management. ..
- Axolemmal molecular domains and unmyelinated fiber vulnerability in TBITHOMAS REEVES; Fiscal Year: 2007..Neuroprotective drugs are also used to alter the course of the functional and structural effects of injury. ..