NDLI: PNA as a potential modulator of COL7A1 gene expression in dominant dystrophic epidermolysis bullosa: a physico-chemical study

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

Molecular BioSystems Vol -13

Molecular BioSystems Vol -12

Molecular BioSystems Vol -9

Molecular BioSystems Vol - 9 Issue - 12

Front cover

Contents list

Toward mobile 3D visualization for structural biologists

Expanding the chemistry of fluorescent protein biosensors through genetic incorporation of unnatural amino acids

Network-based analysis of omics with multi-objective optimization

Cost-effective isobaric tagging for quantitative phosphoproteomics using DiART reagents

Gp10 based-thioetherification (10BASE_d-T) on a displaying library peptide of bacteriophage T7

Activity-based protein profiling of secreted cellulolytic enzyme activity dynamics in Trichoderma reesei QM6a, NG14, and RUT-C30

A fluorogenic probe for β-galactosidase activity imaging in living cells

The association of the cytoplasmic domains of interleukin 4 receptor alpha and interleukin 13 receptor alpha 2 regulates interleukin 4 signaling

Serum metabolic profiles reveal the effect of formoterol on cachexia in tumor-bearing mice

RNA-seq data analysis at the gene and CDS levels provides a comprehensive view of transcriptome responses induced by 4-hydroxynonenal

Binding structures and energies of the human neonatal Fc receptor with human Fc and its mutants by molecular modeling and dynamics simulations

Identification of biomarkers for unstable angina by plasma metabolomic profiling

Solvent interaction analysis of intrinsically disordered proteins in aqueous two-phase systems

Functional and pathway enrichment analysis for integrated regulatory network of high- and low-metastatic lung cancer

Artemisinin rewires the protein interaction network in cancer cells: network analysis, pathway identification, and target prediction

Transcriptomic study of ciprofloxacin resistance in Streptomyces coelicolor A3(2)

Effects of temperature on the dynamics of the LacI-TetR-CI repressilator

Design and biological evaluation of synthetic retinoids: probing length vs. stability vs. activity

Integrated proteomic and metabolomic analysis reveals the NADH-mediated TCA cycle and energy metabolism disorders based on a new model of chronic progressive heart failure

Dissecting the salt dependence of the Tus–Ter protein–DNA complexes by high-throughput differential scanning fluorimetry of a GFP-tagged Tus

Metabonomic investigations of age- and batch-related variations in female NMRI mice using proton nuclear magnetic resonance spectroscopy

PNA as a potential modulator of COL7A1 gene expression in dominant dystrophic epidermolysis bullosa: a physico-chemical study

Transfection activity and the mechanism of pDNA-complexes based on the hybrid of low-generation PAMAM and branched PEI-1.8k

Synergetic regulatory networks mediated by oncogene-driven microRNAs and transcription factors in serous ovarian cancer

Identification and comparative analysis of hepatitis C virus–host cell protein interactions

Back matter

Back cover

Molecular BioSystems Vol - 9 Issue - 9

Molecular BioSystems Vol - 9 Issue - 8

Molecular BioSystems Vol - 9 Issue - 7

Molecular BioSystems Vol - 9 Issue - 6

Molecular BioSystems Vol - 9 Issue - 5

Molecular BioSystems Vol - 9 Issue - 4

Molecular BioSystems Vol - 9 Issue - 3

Molecular BioSystems Vol - 9 Issue - 2

Molecular BioSystems Vol -8

Molecular BioSystems Vol -7

Molecular BioSystems Vol -6

Molecular BioSystems Vol -5

Molecular BioSystems Vol -4

Molecular BioSystems Vol -3

Molecular BioSystems Vol -2

PNA as a potential modulator of COL7A1 gene expression in dominant dystrophic epidermolysis bullosa: a physico-chemical study

Content Provider	Royal Society of Chemistry (RSC)
Author	Oliviero, Giorgia Borbone, Nicola Orecchia, Angela Petraccone, Luigi Bellei, Barbara Giancola, Concetta Stellato, Marco Ignazio Pizzo, Elio Amato, Jussara Piccialli, Gennaro Castiglia, Daniele
Copyright Year	2013
Abstract	Dominant diseases are single gene disorders occurring in the heterozygous state. The mutated allele exerts a dominant effect because it produces an abnormal polypeptide that interferes with the function of the normal allele product. Peptide Nucleic Acids (PNAs) offer a route for a potential therapy for dominant diseases by selectively silencing the allele carrying the dominant mutation. Here, we have synthesized and studied the properties of a 15-mer PNA fully complementary to the site of the c.5272-38T>A sequence variation, which identifies a recurrent mutant COL7A1 allele causing dominant dystrophic epidermolysis bullosa (DDEB), a mendelian disease characterized by skin blistering. The PNA was conjugated with four lysine residues at the C-terminus and a fluorescent probe at the N-terminus. Physico-chemical results proved the formation of a stable, selective PNA/mutant-DNA heteroduplex in vitro. Intriguingly, when transfected into normal human fibroblasts, the PNA correctly localized in the cell nucleus. Our results open new therapeutic possibilities for patients with DDEB.
Starting Page	3166
Ending Page	3174
Page Count	9
File Format	HTM / HTML PDF
ISSN	1742206X
Volume Number	9
Issue Number	12
Journal	Molecular BioSystems
DOI	10.1039/c3mb70283a
Language	English
Publisher	Royal Society of Chemistry
Access Restriction	Open
Subject Keyword	PNA Epidermolysis bullosa Cell nucleus C-terminus Genetic disorder N-terminus Allele Zygosity Gene Lysine Mutation Collagen, type VII, alpha 1 Peptide Proceedings of the National Academy of Sciences of the United States of America
Content Type	Text
Resource Type	Article
Subject	Molecular Biology Biotechnology

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

A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa

Mutation Analyses of COL7A1 Gene in Three Taiwanese Patients with Severe Recessive Dystrophic Epidermolysis Bullosa

Genetic Linkage of Type VII Collagen (COL7A1) to Dominant Dystrophic Epidermolysis Bullosa in Families with Abnormal Anchoring Fibrils

Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.

Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.

A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa.

High frequency of the 425AG splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa

Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.

PNA as a potential modulator of COL7A1 gene expression in dominant dystrophic epidermolysis bullosa: a physico-chemical study

Similar Documents

A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa

Mutation Analyses of COL7A1 Gene in Three Taiwanese Patients with Severe Recessive Dystrophic Epidermolysis Bullosa

Genetic Linkage of Type VII Collagen (COL7A1) to Dominant Dystrophic Epidermolysis Bullosa in Families with Abnormal Anchoring Fibrils

Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.

Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.

Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.

A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa.

High frequency of the 425AG splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa

Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.

PNA as a potential modulator of COL7A1 gene expression in dominant dystrophic epidermolysis bullosa: a physico-chemical study