NDLI: Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype.

Please wait, while we are loading the content...

Year: 2017 Volume: 312

Year: 2016 Volume: 311

Year: 2016 Volume: 310

Year: 2015 Volume: 309

Year: 2015 Volume: 308

Year: 2014 Volume: 307

Year: 2014 Volume: 306

Year: 2013 Volume: 305

Year: 2013 Volume: 304

Year: 2012 Volume: 303

Year: 2012 Volume: 302

Year: 2011 Volume: 301

Year: 2011 Volume: 300

Year: 2010 Volume: 299

Year: 2010 Volume: 298

Year: 2010 Volume: 298 Issue: 6

Year: 2010 Volume: 298 Issue: 5

Year: 2010 Volume: 298 Issue: 4

Year: 2010 Volume: 298 Issue: 3

Year: 2010 Volume: 298 Issue: 2

Year: 2010 Volume: 298 Issue: 1

Continuous mild heat stress induces differentiation of mammalian myoblasts, shifting fiber type from fast to slow.

Force augmentation and stimulated actin polymerization in swine carotid artery.

Role of beta-arrestin1/ERK MAP kinase pathway in regulating adenosine A1 receptor desensitization and recovery.

Developmental and functional studies of the SLC12 gene family members from Drosophila melanogaster.

Role of TRPC1 channel in skeletal muscle function

Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype.

Angiotensin II enhances hyperpolarization-activated currents in rat aortic baroreceptor neurons: involvement of superoxide.

Febrile-range temperature modifies cytokine gene expression in LPS-stimulated macrophages by differentially modifying NF-κB recruitment to cytokine gene promoters

TGF-beta suppresses the upregulation of MMP-2 by vascular smooth muscle cells in response to PDGF-BB.

Deregulation of apoptotic volume decrease and ionic movements in multidrug-resistant tumor cells: role of chloride channels.

Polyploidy impairs human aortic endothelial cell function and is prevented by nicotinamide phosphoribosyltransferase.

Transporters beyond transport. Focus on 'Deregulation of apoptotic volume decrease and ionic movements in multidrug-resistant tumor cells: role of chloride channels'.

Phorbol 12-myristate 13-acetate-induced endocytosis of the Na-K-2Cl cotransporter in MDCK cells is associated with a clathrin-dependent pathway

FOXO signaling is required for disuse muscle atrophy and is directly regulated by Hsp70.

Anionic leak currents through the Na+/monocarboxylate cotransporter SMCT1.

Epidermal growth factor increases lysophosphatidic acid production in human ovarian cancer cells: roles for phospholipase D2 and receptor transactivation.

Dysregulation of very long chain acyl-CoA dehydrogenase coupled with lipid peroxidation.

Acheron, a Lupus antigen family member, regulates integrin expression, adhesion, and motility in differentiating myoblasts

Sildenafil inhibits chronically hypoxic upregulation of canonical transient receptor potential expression in rat pulmonary arterial smooth muscle

Revisiting the parietal cell.

Voltage-dependent facilitation of Cx46 hemichannels.

Year: 2009 Volume: 297

Year: 2009 Volume: 296

Year: 2008 Volume: 295

Year: 2008 Volume: 294

Year: 2007 Volume: 293

Year: 2007 Volume: 292

Year: 2006 Volume: 291

Year: 2006 Volume: 290

Year: 2005 Volume: 289

Year: 2005 Volume: 288

Year: 2004 Volume: 286

Year: 2003 Volume: 284

Year: 2002 Volume: 283

Year: 2002 Volume: 282

Year: 2001 Volume: 281

Year: 2001 Volume: 280

Year: 2000 Volume: 279

Functional analysis and theoretical modeling of ferroportin reveals clustering of mutations according to phenotype.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Wallace, Daniel F. Harris, Jonathan M. Subramaniam, V. Nathan
Description	Country affiliation: Australia Author Affiliation: Wallace DF ( Membrane Transport Laboratory, The Queensland Institute of Medical Research, 300 Herston Rd., Herston, Brisbane, QLD 4006, Australia.)
Abstract	Ferroportin disease is a heterogeneous iron release disorder resulting from mutations in the ferroportin gene. Ferroportin protein is a multitransmembrane domain iron transporter, responsible for iron export from cells, which, in turn, is regulated by the peptide hormone hepcidin. Mutations in the ferroportin gene may affect either regulation of the protein's transporter function or the ability of hepcidin to regulate iron efflux. We have used a combination of functional analysis of epitope-tagged ferroportin variants coupled with theoretical modeling to dissect the relationship between ferroportin mutations and their cognate phenotypes. Myc epitope-tagged human ferroportin expression constructs were transfected into Caco-2 intestinal cells and protein localization analyzed by immunofluorescence microscopy and colocalization with organelle markers. The effect of mutations on iron efflux was assessed by costaining with anti-ferritin antibodies and immunoblotting to quantitate cellular expression of ferritin and transferrin receptor 1. Wild-type ferroportin localized mainly to the cell surface and intracellular structures. All ferroportin disease-causing mutations studied had no effect on localization at the cell surface. N144H, N144T, and S338R mutant ferroportin retained the ability to transport iron. In contrast, A77D, V162Delta, and L170F mutants were iron transport defective. Surface staining experiments showed that both ends of the protein were located inside the cell. These data were used as the basis for theoretical modeling of the ferroportin molecule. The model predicted phenotypic clustering of mutations with gain-of-function variants associated with a hypothetical channel through the axis of ferroportin. Conversely, loss-of-function variants were located at the membrane/cytoplasm interface.
File Format	HTM / HTML
ISSN	03636143
e-ISSN	15221563
Journal	American Journal of Physiology - Cell Physiology
Issue Number	1
Volume Number	298
Language	English
Publisher	American Physiological Society
Publisher Date	2010-01-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Cell Biology Cation Transport Proteins Genetics Mutation Amino Acid Substitution Caco-2 Cells Metabolism Cell Line, Tumor Cell Membrane Pathology Dna Primers Gene Amplification Gene Expression Regulation, Neoplastic Genes, Myc Iron Overload Mutagenesis, Site-directed Phenotype Transfection Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Cell Biology Physiology

Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302

See location in the Map
03222 282435
Mail: support@ndl.gov.in

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in