Mouse models for muscular dystrophies: an overview

Generating mouse models for biomedical research: technological advances

(2019) Channabasavaiah B. Gurumurthy et al.   Disease Models & Mechanisms

CRISPR/Cas9-generated mouse model of Duchenne muscular dystrophy recapitulating a newly identified large 430 kb deletion in the human DMD gene

(2019) Tatiana V. Egorova et al.   Disease Models & Mechanisms

Natural disease history of the D2-mdx mouse model for Duchenne muscular dystrophy

(2019) Maaike van Putten et al.   FASEB JOURNAL

Therapeutic developments for Duchenne muscular dystrophy

(2019) Ingrid E. C. Verhaart et al.   Nature Reviews Neurology

Dysferlin deficiency alters lipid metabolism and remodels the skeletal muscle lipidome in mice

(2019) Vanessa R. Haynes et al.   JOURNAL OF LIPID RESEARCH

The use of genetically humanized animal models for personalized medicine approaches

(2019) Annemieke Aartsma-Rus et al.   Disease Models & Mechanisms

Cross-sectional study into age-related pathology of mouse models for limb girdle muscular dystrophy types 2D and 2F

(2019) Ingrid E. C. Verhaart et al.   PLoS One

A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping

(2019) Alexis R. Demonbreun et al.   Disease Models & Mechanisms

A comparison of the bone and growth phenotype of mdx, mdx:cmah−/− and mdx:utrn+/− murine models with the C57BL10 wildtype mouse

(2019) C. L. Wood et al.   Disease Models & Mechanisms

Muscle xenografts reproduce key molecular features of facioscapulohumeral muscular dystrophy

(2019) Amber L. Mueller et al.   EXPERIMENTAL NEUROLOGY

Early skeletal muscle pathology and disease progress in the dy3K/dy3K mouse model of congenital muscular dystrophy with laminin α2 chain-deficiency

(2019) Kinga I. Gawlik et al.   Scientific Reports

Effect of a long-term treatment with metformin in dystrophic mdx mice: A reconsideration of its potential clinical interest in Duchenne muscular dystrophy

(2018) Paola Mantuano et al.   BIOCHEMICAL PHARMACOLOGY

creat229 th ENMC international workshop: Limb girdle muscular dystrophies – nomenclature and reformed classification, 17-19 March 2017, Naarden, The Netherlands

(2018) Volker Straub et al.   NEUROMUSCULAR DISORDERS

Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30–31 January 2017

(2018) Volker Straub et al.   NEUROMUSCULAR DISORDERS

A dystrophic Duchenne mouse model for testing human antisense oligonucleotides

(2018) Marcel Veltrop et al.   PLoS One

Natural disease history of the dy2J mouse model of laminin α2 (merosin)-deficient congenital muscular dystrophy

(2018) S. Pasteuning-Vuhman et al.   PLoS One

A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy

(2018) Takako Jones et al.   PLoS One

A long – term treatment with taurine prevents cardiac dysfunction in mdx mice

(2018) Antonietta Mele et al.   Translational Research

Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools

(2018) Rick H. de Leeuw et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cmah-dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment

(2018) Corinne A Betts et al.   HUMAN MOLECULAR GENETICS

Various effects of AAV9-mediated βARKct gene therapy in different mouse models of inherited cardiomyopathy

(2018) Ralf Bauer et al.   NEUROMUSCULAR DISORDERS

Annexin A2 links poor myofiber repair with inflammation and adipogenic replacement of the injured muscle

(2017) Aurelia Defour et al.   HUMAN MOLECULAR GENETICS

Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology

(2017) Katherine E. Vest et al.   HUMAN MOLECULAR GENETICS

Increased nonHDL cholesterol levels cause muscle wasting and ambulatory dysfunction in the mouse model of LGMD2B

(2017) Stephanie L. Sellers et al.   JOURNAL OF LIPID RESEARCH

Natural disease history of mouse models for limb girdle muscular dystrophy types 2D and 2F

(2017) S. Pasteuning-Vuhman et al.   PLoS One

Linker proteins restore basement membrane and correct LAMA2 -related muscular dystrophy in mice

(2017) Judith R. Reinhard et al.   Science Translational Medicine

Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model

(2017) Darko Bosnakovski et al.   Nature Communications

Characterization of neuromuscular synapse function abnormalities in multiple Duchenne muscular dystrophy mouse models

(2016) Elizabeth M. van der Pijl et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics

(2016) Jennifer CJ Chen et al.   MOLECULAR THERAPY

212th ENMC International Workshop:

(2016) M. Saunier et al.   NEUROMUSCULAR DISORDERS

Telomere shortening and metabolic compromise underlie dystrophic cardiomyopathy

(2016) Alex Chia Yu Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PABPN1-Dependent mRNA Processing Induces Muscle Wasting

(2016) Muhammad Riaz et al.   PLoS Genetics

A decline in PABPN1 induces progressive muscle weakness in Oculopharyngeal muscle dystrophy and in muscle aging

(2016) Seyed Yahya Anvar et al.   Aging-US

Genetic and epigenetic contributors to FSHD

(2015) Lucia Daxinger et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy

(2015) J. W. McGreevy et al.   Disease Models & Mechanisms

Effect of genetic background on the dystrophic phenotype inmdxmice

(2015) William D. Coley et al.   HUMAN MOLECULAR GENETICS

Treatment with human immunoglobulin G improves the early disease course in a mouse model of Duchenne muscular dystrophy

(2015) Jana Zschüntzsch et al.   JOURNAL OF NEUROCHEMISTRY

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

(2015) Emma Heslop et al.   Orphanet Journal of Rare Diseases

Emerging preclinical animal models for FSHD

(2015) Angela Lek et al.   TRENDS IN MOLECULAR MEDICINE

The effects of high-fat feeding on physical function and skeletal muscle extracellular matrix

(2015) C S Tam et al.   Nutrition & Diabetes

Neuromuscular electrical stimulation promotes development in mice of mature human muscle from immortalized human myoblasts

(2015) Paraskevi Sakellariou et al.   Skeletal Muscle

Lipid Accumulation in Dysferlin-Deficient Muscles

(2014) Miranda D. Grounds et al.   AMERICAN JOURNAL OF PATHOLOGY

Human skeletal muscle xenograft as a new preclinical model for muscle disorders

(2014) Y. Zhang et al.   HUMAN MOLECULAR GENETICS

Pharmacologic Management of Duchenne Muscular Dystrophy: Target Identification and Preclinical Trials

(2014) J. N. Kornegay et al.   ILAR JOURNAL

Oculopharyngeal Muscular Dystrophy as a Paradigm for Muscle Aging

(2014) Yotam Raz et al.   Frontiers in Aging Neuroscience

Dysferlin and Myoferlin Regulate Transverse Tubule Formation and Glycerol Sensitivity

(2013) Alexis R. Demonbreun et al.   AMERICAN JOURNAL OF PATHOLOGY

Oxidative stress and pathology in muscular dystrophies: focus on protein thiol oxidation and dysferlinopathies

(2013) Jessica R. Terrill et al.   FEBS Journal

Muscular dystrophies

(2013) Eugenio Mercuri et al.   LANCET

Role of telomere dysfunction in cardiac failure in Duchenne muscular dystrophy

(2013) Foteini Mourkioti et al.   NATURE CELL BIOLOGY

Muscular dystrophy in dysferlin-deficient mouse models

(2013) Mark A. Hornsey et al.   NEUROMUSCULAR DISORDERS

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD

(2013) Yvonne D. Krom et al.   PLoS Genetics

Technical approaches for mouse models of human disease

(2011) M. J. Justice et al.   Disease Models & Mechanisms

Soluble activin receptor type IIB increases forward pulling tension in the mdx mouse

(2011) C. George Carlson et al.   MUSCLE & NERVE

4th Annual Dysferlin Conference 11–14 September 2010, Washington, USA

(2011) Douglas E. Albrecht et al.   NEUROMUSCULAR DISORDERS

Enhancing translation: Guidelines for standard pre-clinical experiments in mdx mice

(2011) Raffaella Willmann et al.   NEUROMUSCULAR DISORDERS

Efficient design and assembly of custom TALEN and other TAL effector-based constructs for DNA targeting

(2011) T. Cermak et al.   NUCLEIC ACIDS RESEARCH

Skeletal muscle laminin and MDC1A: pathogenesis and treatment strategies

(2011) Kinga I Gawlik et al.   Skeletal Muscle

Dystrophin deficiency exacerbates skeletal muscle pathology in dysferlin-null mice

(2011) Renzhi Han et al.   Skeletal Muscle

A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene

(2010) Andreas Leidenroth et al.   BMC EVOLUTIONARY BIOLOGY

Short Telomeres and Stem Cell Exhaustion Model Duchenne Muscular Dystrophy in mdx/mTR Mice

(2010) Alessandra Sacco et al.   CELL

Intolerance to β-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy

(2010) Ralf Bauer et al.   EUROPEAN JOURNAL OF HEART FAILURE

Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer

(2010) William Lostal et al.   HUMAN MOLECULAR GENETICS

Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres

(2010) Capucine Trollet et al.   HUMAN MOLECULAR GENETICS

Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice

(2010) Renzhi Han et al.   JOURNAL OF CLINICAL INVESTIGATION

Developing standard procedures for pre-clinical efficacy studies in mouse models of spinal muscular atrophy

(2010) Raffaella Willmann et al.   NEUROMUSCULAR DISORDERS

Cystamine Suppresses Polyalanine Toxicity in a Mouse Model of Oculopharyngeal Muscular Dystrophy

(2010) J. E. Davies et al.   Science Translational Medicine

A Human-Specific Deletion in Mouse Cmah Increases Disease Severity in the mdx Model of Duchenne Muscular Dystrophy

(2010) K. Chandrasekharan et al.   Science Translational Medicine

Dysferlin Deficiency and the Development of Cardiomyopathy in a Mouse Model of Limb-Girdle Muscular Dystrophy 2B

(2009) Thomas H. Chase et al.   AMERICAN JOURNAL OF PATHOLOGY

Developing standard procedures for murine and canine efficacy studies of DMD therapeutics: report of two expert workshops on “Pre-clinical testing for Duchenne dystrophy”: Washington DC, October 27th–28th 2007 and Zürich, June 30th-July 1st 2008

(2009) Kanneboyina Nagaraju et al.   NEUROMUSCULAR DISORDERS

Mammalian animal models for Duchenne muscular dystrophy

(2009) Raffaella Willmann et al.   NEUROMUSCULAR DISORDERS

Steroid treatment causes deterioration of myocardial function in the  -sarcoglycan-deficient mouse model for dilated cardiomyopathy

(2008) R. Bauer et al.   CARDIOVASCULAR RESEARCH

Two-tiered hypotheses for Duchenne muscular dystrophy

(2008) M. D. Grounds   CELLULAR AND MOLECULAR LIFE SCIENCES

Oculopharyngeal muscular dystrophy: A polyalanine myopathy

(2008) Bernard Brais   Current Neurology and Neuroscience Reports

A single point mutation in the LN domain of LAMA2 causes muscular dystrophy and peripheral amyelination

(2008) B. L. Patton et al.   JOURNAL OF CELL SCIENCE