Literature DB >> 29951819

Muscular Dystrophy Model.

Saranyapin Potikanond1, Wutigri Nimlamool2, Jasprien Noordermeer3, Lee G Fradkin4.   

Abstract

Muscular dystrophy (MD) is a group of muscle weakness disease involving in inherited genetic conditions. MD is caused by mutations or alteration in the genes responsible for the structure and functioning of muscles. There are many different types of MD which have a wide range from mild symptoms to severe disability. Some types involve the muscles used for breathing which eventually affect life expectancy. This chapter provides an overview of the MD types, its gene mutations, and the Drosophila MD models. Specifically, the Duchenne muscular dystrophy (DMD), the most common form of MD, will be thoroughly discussed including Dystrophin genes, their isoforms, possible mechanisms, and signaling pathways of pathogenesis.

Entities:  

Keywords:  Drosophila as a Duchenne muscular dystrophy (DMD) model; Dystrophin-glycoprotein complex; Expertise: molecular cell biology; Muscular atrophy; Muscular dystrophy; Neuromuscular junction

Mesh:

Year:  2018        PMID: 29951819     DOI: 10.1007/978-981-13-0529-0_9

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


  4 in total

Review 1.  Duchenne muscular dystrophy animal models for high-throughput drug discovery and precision medicine.

Authors:  Nalinda B Wasala; Shi-Jie Chen; Dongsheng Duan
Journal:  Expert Opin Drug Discov       Date:  2020-01-30       Impact factor: 6.098

Review 2.  Autism Spectrum Disorder-Related Syndromes: Modeling with Drosophila and Rodents.

Authors:  Ibuki Ueoka; Hang Thi Nguyet Pham; Kinzo Matsumoto; Masamitsu Yamaguchi
Journal:  Int J Mol Sci       Date:  2019-08-21       Impact factor: 5.923

Review 3.  "Betwixt Mine Eye and Heart a League Is Took": The Progress of Induced Pluripotent Stem-Cell-Based Models of Dystrophin-Associated Cardiomyopathy.

Authors:  Davide Rovina; Elisa Castiglioni; Francesco Niro; Sara Mallia; Giulio Pompilio; Aoife Gowran
Journal:  Int J Mol Sci       Date:  2020-09-23       Impact factor: 5.923

4.  Defects of full-length dystrophin trigger retinal neuron damage and synapse alterations by disrupting functional autophagy.

Authors:  Elisabetta Catalani; Silvia Bongiorni; Anna Rita Taddei; Marta Mezzetti; Federica Silvestri; Marco Coazzoli; Silvia Zecchini; Matteo Giovarelli; Cristiana Perrotta; Clara De Palma; Emilio Clementi; Marcello Ceci; Giorgio Prantera; Davide Cervia
Journal:  Cell Mol Life Sci       Date:  2020-08-04       Impact factor: 9.261

  4 in total

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