Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapy.

Abstract:

:Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscular dystrophies. The isolation of the defective gene in DMD/BMD has led to a better understanding of the disease process and has promoted studies regarding the application of molecular therapy. The purpose of this review is to present the progress made in this area of research with particular reference to dystrophin Kobe. Based on the results from the molecular analysis of dystrophin Kobe, we propose a novel molecular therapeutic method for DMD in which antisense oligonucleotides transform DMD into a milder phenotype by inducing exon skipping. In addition, current proposals for the molecular therapy of DMD are discussed.

journal_name

IUBMB Life

journal_title

IUBMB life

authors

Matsuo M

doi

10.1080/15216540212333

keywords:

subject

Has Abstract

pub_date

2002-03-01 00:00:00

pages

147-52

issue

3

eissn

1521-6543

issn

1521-6551

journal_volume

53

pub_type

杂志文章,评审
  • CNBP: a multifunctional nucleic acid chaperone involved in cell death and proliferation control.

    abstract::Cellular nucleic acid binding protein (CNBP) has been implicated in vertebrate craniofacial development and in myotonic dystrophy type 2 (DM2) and sporadic inclusion body myositis (sIBM) human diseases. In these seemingly unrelated biological processes, CNBP appears to be involved in controlling cell death and prolife...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.379

    authors: Calcaterra NB,Armas P,Weiner AM,Borgognone M

    更新日期:2010-10-01 00:00:00

  • Synergistic effects of Rho kinase inhibitor Y-27632 and Noggin overexpression on the proliferation and neuron-like cell differentiation of stem cells derived from human exfoliated deciduous teeth.

    abstract::Stem cells from human exfoliated deciduous teeth (SHEDs) are highly proliferative, clonogenic, and multipotent stem cells with a neural crest cell origin. This property could be a desirable option for potential therapeutic applications. In this study, we focus on the effects of Rho kinase inhibitors Y-27632 and Noggin...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.2208

    authors: Yang S,Xin C,Zhang B,Zhang H,Hao Y

    更新日期:2020-04-01 00:00:00

  • The adaptation of polar fishes to climatic changes: Structure, function and phylogeny of haemoglobin.

    abstract::In the Antarctic, fishes of dominant suborder Notothenioidei have evolved in a unique thermal scenario. Phylogenetically related taxa of the suborder live in a wide range of latitudes, in Antarctic, sub-Antarctic and temperate oceans. Consequently, they offer a remarkable opportunity to study the physiological and bio...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.1

    authors: Verde C,Giordano D,di Prisco G

    更新日期:2008-01-01 00:00:00

  • Human genetic susceptibility to tuberculosis and other mycobacterial diseases.

    abstract::The existence of a genetic component in mycobacterial disease susceptibility is no longer in doubt and the investigations now being conducted aim to determine which genes are involved, to what extent, and in which disease phenotype they are relevant. In certain rare instances of susceptibility to poorly pathogenic myc...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1080/15216540212644

    authors: Hoal EG

    更新日期:2002-04-01 00:00:00

  • Galactose toxicity in animals.

    abstract::In most organisms, productive utilization of galactose requires the highly conserved Leloir pathway of galactose metabolism. Yet, if this metabolic pathway is perturbed due to congenital deficiencies of the three associated enzymes, or an overwhelming presence of galactose, this monosaccharide which is abundantly pres...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.262

    authors: Lai K,Elsas LJ,Wierenga KJ

    更新日期:2009-11-01 00:00:00

  • Cholesterol and Alzheimer's disease: a still poorly understood correlation.

    abstract::A large amount of evidence suggests a pathogenic link between cholesterol homeostasis dysregulation and Alzheimer's disease (AD). In cell culture systems, the production of amyloid-β (Aβ) is modulated by cholesterol, and studies on animal models have consistently demonstrated that hypercholesterolemia is associated wi...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.1091

    authors: Ricciarelli R,Canepa E,Marengo B,Marinari UM,Poli G,Pronzato MA,Domenicotti C

    更新日期:2012-12-01 00:00:00

  • A role for neuroglobin: resetting the trigger level for apoptosis in neuronal and retinal cells.

    abstract::We propose a new hypothesis for the molecular mechanism by which neuroglobin exerts its protective effect in hypoxia-induced cell death. Our recent observation of a very rapid electron-transfer reaction between ferrous neuroglobin and ferric cytochrome c is central to this hypothesis. In contrast to previously suggest...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.35

    authors: Fago A,Mathews AJ,Brittain T

    更新日期:2008-06-01 00:00:00

  • CD43 regulates the threshold for T cell activation by targeting Cbl functions.

    abstract::T cell (TC) activation requires the coordinated signaling of the T cell receptor (TCR) and coreceptor molecules, allowing TCs to respond to lower degrees of TCR occupancy. Coreceptor molecules set the threshold for TC activation by controlling different regulatory signaling loops. The Cbl family members prevent undesi...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.554

    authors: Pedraza-Alva G,Mérida LB,del Rio R,Fierro NA,Cruz-Muñoz ME,Olivares N,Melchy E,Igras V,Holländer GA,Burakoff SJ,Rosenstein Y

    更新日期:2011-10-01 00:00:00

  • Diminished substrate-mediated cardiac mitochondrial respiration and elevated autophagy in adult male offspring of gestational diabetic rats.

    abstract:OBJECTIVE:Heart diseases are common in the offspring of gestational diabetic mother (ODM). Defects in mitochondrial metabolism and autophagy may, in part, be responsible for the adverse structural and functional alterations in the heart. The principal objective of this study was to investigate cardiac mitochondrial res...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.2449

    authors: Rajendran RS,Jayakumari NR,Sivasailam A,Reghuvaran AC,Pillai VV,Karunakaran J,Sreelatha HV,Manjunatha S,Gopala S

    更新日期:2021-01-22 00:00:00

  • Ischemia and reperfusion related myocardial inflammation: A network of cells and mediators targeting the cardiomyocyte.

    abstract::Occlusion of a coronary artery if maintained for longer period of time results in damage of the cardiac tissue. However, restoration of blood flow to previously ischemic tissue can itself induce further cardiac damage, a phenomenon known as myocardial reperfusion injury. Cardiac homoeostasis is supported by a network ...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.1352

    authors: Rohrbach S,Troidl C,Hamm C,Schulz R

    更新日期:2015-02-01 00:00:00

  • Tea bioactive components prevent carcinogenesis via anti-pathogen, anti-inflammation, and cell survival pathways.

    abstract::Cancer seriously impairs human health and survival. Many perturbations, such as increased oxidative stress, pathogen infection, and inflammation, promote the accumulation of DNA mutations, and ultimately lead to carcinogenesis. Tea is one of the most highly consumed beverages worldwide and has been linked to improveme...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.2445

    authors: Fan X,Xiao X,Mao X,Chen D,Yu B,Wang J,Yan H

    更新日期:2021-02-01 00:00:00

  • Rate of 14CO2 production from variously labeled forms of [14C]glucose in human breast invasive ductal carcinoma tissues.

    abstract::To establish possible cancerous aggressiveness between the metabolism of variously labeled [14C]glucose in the human breast invasive ductal carcinoma (IDC) tissues, we measured the rates of 14CO2 production from those tissues by using radiorespirometry, expressing the results as initial velocity (V) in nanomoles of 14...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1080/713803528

    authors: Yan SH,Wallon J,Mayaudon J

    更新日期:1999-10-01 00:00:00

  • Bacterial wobble modifications of NNA-decoding tRNAs.

    abstract::Nucleotides of transfer RNAs (tRNAs) are highly modified, particularly at the anticodon. Bacterial tRNAs that read A-ending codons are especially notable. The U34 nucleotide canonically present in these tRNAs is modified by a wide range of complex chemical constituents. An additional two A-ending codons are not read b...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.2120

    authors: Nilsson EM,Alexander RW

    更新日期:2019-08-01 00:00:00

  • Tilorone activates NK cells and cytotoxic lymphocytes that kill HLA-negative tumor cells.

    abstract::Tilorone hydrochloride, a low-molecular-weight synthetic compound, induces interferon production and has been reported to have both antiviral and antitumor activities. Here, we have demonstrated the ability of tilorone to activate NK cells and specific subpopulations of cytotoxic CD4+ and CD8+ T lymphocytes that recog...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.1985

    authors: Sharapova TN,Romanova EA,Sashchenko LP,Yashin DV

    更新日期:2019-03-01 00:00:00

  • Systematic integration of GATA transcription factors and epigenomes via IDEAS paints the regulatory landscape of hematopoietic cells.

    abstract::Members of the GATA family of transcription factors play key roles in the differentiation of specific cell lineages by regulating the expression of target genes. Three GATA factors play distinct roles in hematopoietic differentiation. In order to better understand how these GATA factors function to regulate genes thro...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.2195

    authors: Hardison RC,Zhang Y,Keller CA,Xiang G,Heuston EF,An L,Lichtenberg J,Giardine BM,Bodine D,Mahony S,Li Q,Yue F,Weiss MJ,Blobel GA,Taylor J,Hughes J,Higgs DR,Göttgens B

    更新日期:2020-01-01 00:00:00

  • d-amino acid modification protects N-Acetyl-seryl-aspartyl-lysyl-proline from physiological hydroxylation and increases its antifibrotic effects on hepatic fibrosis.

    abstract::N-Acetyl-seryl-aspartyl-lysyl-proline (Ac-SDKP) is a critical negative regulator of fibrosis development in the liver. However, its extremely short half-life in vivo greatly compromises its potential applications. Here, we report an Ac-SDKP analog peptide with d-amino acid replacement (Ac-SDD KD P). The stability of A...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.2037

    authors: Zhang X,Zhou J,Zhu Y,He L,Pang Z,Wang Z,Xu C,Zhang C,Hao Q,Li W,Zhang W,Zhang Y,Li M

    更新日期:2019-09-01 00:00:00

  • Mutational analysis of the three conserved valine residues of insulin and a proposal of "isosteric residue".

    abstract::To further understand the role of the three conserved Val residues in insulin, B12Val, B18Val, and A3Val, five insulin mutants-[A3Ser]insulin, [B12Thr]insulin, (desB30)[B12Ser]insulin, [B18Thr] insulin, and [B18Leu]insulin--were obtained by means of site-directed mutagenesis and their receptor-binding activities as we...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1080/152165401317291165

    authors: Guo ZY,Tang YH,Zhang Z,Feng YM

    更新日期:2001-12-01 00:00:00

  • A genetic variant in a homocysteine metabolic gene that increases the risk of congenital cardiac septal defects in Han Chinese populations.

    abstract::Elevated homocysteine levels are known to be a risk factor for congenital cardiac septal defects (CCSDs), but the mechanism underlying this effect is unknown. The genetic variants that were significantly associated with circulating homocysteine concentrations have been systematically identified through the genome-wide...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.1651

    authors: Xie HH,Li J,Li PQ,Zhang AA,Li Y,Wang YZ,Xie DX,Xie XD

    更新日期:2017-09-01 00:00:00

  • TRAF3 negatively regulates calcineurin-NFAT pathway by targeting calcineurin B subunit for degradation.

    abstract::Calcineurin (CN) is the only serine/threonine specific protein phosphatase regulated by Ca(2+) /calmodulin (CaM), which is composed of catalytic A subunit (CNA) and regulatory B subunit (CNB). Tumor necrosis factor (TNF) receptor associated factor 3 (TRAF3) is an essential component in the Toll like receptors and TNF ...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.1060

    authors: Wang X,Huang Y,Li L,Wei Q

    更新日期:2012-09-01 00:00:00

  • Cell-penetrating peptides: A tool for effective delivery in gene-targeted therapies.

    abstract::The current landscapes of novel therapeutic approaches rely mostly on gene-targeted technologies, enabling to fight rare genomic diseases, from infections to cancer and hereditary diseases. Although, reaching the action-site for this novel treatments requires to deliver nucleic acids, or other macromolecules into cell...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.1257

    authors: de Figueiredo IR,Freire JM,Flores L,Veiga AS,Castanho MARB

    更新日期:2014-03-01 00:00:00

  • Human serum and milk albumins are metal-dependent DNases.

    abstract::It is known that that human serum albumin (HSA) and alpha-lactalbumin (LA) possess DNA-binding sites. Electrophoretically homogeneous HSA and LA containing no canonical enzymes were isolated from human sera and milk. Here we have analyzed for the first time the possibility of DNA hydrolysis by these proteins. It was s...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.1741

    authors: Soboleva SE,Guschina TA,Nevinsky GA

    更新日期:2018-06-01 00:00:00

  • Molecular control of cell differentiation and programmed cell death during digit development.

    abstract::During the hand plate development, the processes of cell differentiation and control of cell death are relevant to ensure a correct shape of the limb. The progenitor cell pool that later will differentiate into cartilage to form the digits arises from undifferentiated mesenchymal cells beneath the apical ectodermal ri...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.563

    authors: Chimal-Monroy J,Abarca-Buis RF,Cuervo R,Díaz-Hernández M,Bustamante M,Rios-Flores JA,Romero-Suárez S,Farrera-Hernández A

    更新日期:2011-10-01 00:00:00

  • NSAIDs induce apoptosis in nonproliferating ovarian cancer cells and inhibit tumor growth in vivo.

    abstract::Ovarian cancer (OC) is one of the most lethal gynaecological cancers, which usually has a poor prognosis due to late diagnosis. A large percentage of the OC cell population is in a nonproliferating and quiescent stage, which poses a barrier to success when using most chemotherapeutic agents. Recent studies have shown ...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.1035

    authors: Duncan K,Uwimpuhwe H,Czibere A,Sarkar D,Libermann TA,Fisher PB,Zerbini LF

    更新日期:2012-07-01 00:00:00

  • Mass spectrometry-based proteomic analysis of FSCN1-interacting proteins in laryngeal squamous cell carcinoma cells.

    abstract::Fascin actin-bundling protein 1 (FSCN1) is an evolutionarily conserved actin-bundling protein that plays a critical role in cell migration, motility, adhesion, and cellular interactions. Although multiple clinical studies have implicated the expression of FSCN1 in laryngeal squamous cell carcinoma (LSCC) progression, ...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.2121

    authors: Liu H,Cui J,Zhang Y,Niu M,Xue X,Yin H,Tang Y,Dai L,Dai F,Guo Y,Wu Y,Gao W

    更新日期:2019-11-01 00:00:00

  • Vitamin E: Mechanism of transport and regulation in the CNS.

    abstract::Although vitamin E has been recognized as a critical micronutrient to neuronal health for more than half a century, vitamin E transport and regulation in the brain remain a mystery. Currently, the majority of what is known about vitamin E transport has been delineated in the liver. However, clues from the pathogenesis...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.1993

    authors: Lee P,Ulatowski LM

    更新日期:2019-04-01 00:00:00

  • Adenylyl cyclase expression and regulation during the differentiation of Dictyostelium discoideum.

    abstract::Cyclic AMP metabolism is essential for the survival of the social amoebae Dictyostelium discoideum. Three distinct adenylyl cyclases are expressed and required for the normal development of this simple eukaryote. The adenylyl cyclase expressed during aggregation, ACA, is related to the mammalian and Drosophila G prote...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1080/15216540400013887

    authors: Kriebel PW,Parent CA

    更新日期:2004-09-01 00:00:00

  • What is the nature of the mitochondrial permeability transition pore and what is it not?

    abstract::Since about 60 years a phenomenon now called permeability transition is known in mitochondria. It involves a large pore in the inner mitochondrial membrane, the permeability transition pore (PTP) whose molecular structure is still unknown. Year after year, new hypotheses have been developed how this pore could look li...

    journal_title:IUBMB life

    pub_type: 杂志文章,评审

    doi:10.1002/iub.1130

    authors: Siemen D,Ziemer M

    更新日期:2013-03-01 00:00:00

  • Identification of new FGF1 binding partners-Implications for its intracellular function.

    abstract::Besides its classical mode of action through activation of specific receptors at the cell surface, fibroblast growth factor 1 (FGF1) can also cross the cellular membrane and translocate into the cytosol and further to the nucleus. The mechanism of this translocation is described partially, but the role of FGF1 inside ...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.1480

    authors: Bober J,Olsnes S,Kostas M,Bogacz M,Zakrzewska M,Otlewski J

    更新日期:2016-03-01 00:00:00

  • IUBMB focused meeting: 10th conference Inhibitors of Protein Kinases. Kinase inhibitors in target biology and disease (IPK2019).

    abstract::The 10th jubilee conference (IPK2019) took place on September 15-19, 2019 in Warsaw, on the Ochota campus as the IUBMB Focused Meeting entitled "Inhibitors of Protein Kinases. Kinase inhibitors in target biology and disease". ...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1002/iub.2303

    authors: Poznanski J,Fabbro D

    更新日期:2020-06-01 00:00:00

  • Calcium-induced alterations in the functioning of protein serine/threonine and tyrosine kinases in Streptomyces fradiae cells.

    abstract::In Streptomyces fradiae, calcium ions induce alterations in intensity and specificity of the secondary metabolism and stimulate sporulation. Using in vivo labeling, we demonstrate that in S. fradiae phosphorylation of some proteins are also influenced by Ca2+ added exogenously. Calcium ions at physiological concentrat...

    journal_title:IUBMB life

    pub_type: 杂志文章

    doi:10.1080/713803699

    authors: Elizarov SM,Mironov VA,Danilenko VN

    更新日期:2000-08-01 00:00:00