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Special Issue: A Guide to Using Neuromuscular Disease Models for Basic and Preclinical Studies

Summary: This study reports associations between symptom onset and the microbiome, immune system and epigenetic marks, establishing a time line that may pinpoint biomarkers of ALS for earlier diagnosis and therapeutic intervention.

Summary: Academia-industry partnerships are important for therapeutic development. An improved understanding of the steps required for the translation of academic discoveries will be key for future clinical success in the neuromuscular field.

Summary: This Review discusses biomarkers in blood and urine linked to myonecrosis, inflammation and oxidative stress, to enhance development of therapies for DMD, and the challenges to be overcome for clinical translation.

Summary: Personalized medicine approaches benefit from humanized animal models. Here, we outline the usefulness, caveats and considerations for generating and using these models for pre-clinical studies of Duchenne muscular dystrophy.

Summary: The transgenic minipig model of Huntington's disease demonstrates a slow-progressing motor, cognitive and behavioral phenotype with later onset in adulthood.

Summary: This Review and its accompanying comprehensive table summarize the most commonly used mouse models for a subset of highly studied muscular dystrophies.

Summary: Mouse models of prediabetes and type 2 diabetes that develop peripheral neuropathy display increased levels of nerve triglycerides, which return to normal upon dietary reversal, suggesting that altered lipids are involved in disease.

Editors' choice: Skeletal muscle fiber development and function are dependent on additive as well as combinatorial interactions among ryanodine receptor calcium release channels.

Summary: The mechanisms of skeletal muscle development, growth and regeneration are described. We discuss whether these processes are dysregulated in inherited muscle diseases and identify pathways that may represent therapeutic targets.

Summary: The mdx mouse model of Duchenne muscular dystrophy (DMD) has in vivo abnormalities in cerebellar spike firing, which could contribute to the neurological symptoms observed in individuals with DMD.

Summary: Rigorous preclinical efficacy studies de-risk clinical trials in neuromuscular diseases. This Review summarizes the impact of expert panel advice on translational studies.

Summary: The most common SGCG mutation that causes LGMD 2C has been modeled in mice using gene editing, providing a platform for preclinical evaluation of multi-exon antisense therapy.

Summary: Here, we show that in X-linked myopathy with excessive autophagy there is increased fusion of myoblasts, which is not caused by the primary lysosomal acidification defect.

Summary: This Editorial summarizes the highlights of DMM's Special Issue ‘A Guide to Using Neuromuscular Disease Models for Basic and Preclinical Studies’.

Summary: The authors describe a neuronal model to investigate how mutations in the copper transporter ATP7A cause axonal degeneration in the peripheral nervous system.

Summary: Longitudinal phenotyping of the minipig model for Huntington's disease demonstrates a slow and age-dependent neurodegeneration.

Editors' choice: Unlike boys with DMD, the mdx:Cmah−/− mouse shows increased weight gain and more rapid bone development; therefore, its utility for studying growth and skeletal development in DMD is limited.

Summary: We describe a mouse model (KI-STIM1I115F) that displays the clinical hallmarks of tubular aggregate myopathy. This model provides a new opportunity to characterize the disorder and test novel therapeutic strategies.

EDITORIAL

Summary: This Editorial summarizes the highlights of DMM's Special Issue ‘A Guide to Using Neuromuscular Disease Models for Basic and Preclinical Studies’.

FIRST PERSON

A MODEL FOR LIFE

AT A GLANCE

Summary: The mechanisms of skeletal muscle development, growth and regeneration are described. We discuss whether these processes are dysregulated in inherited muscle diseases and identify pathways that may represent therapeutic targets.

SPECIAL ARTICLES

Summary: Academia-industry partnerships are important for therapeutic development. An improved understanding of the steps required for the translation of academic discoveries will be key for future clinical success in the neuromuscular field.

Summary: Personalized medicine approaches benefit from humanized animal models. Here, we outline the usefulness, caveats and considerations for generating and using these models for pre-clinical studies of Duchenne muscular dystrophy.

REVIEWS

Summary: This Review discusses biomarkers in blood and urine linked to myonecrosis, inflammation and oxidative stress, to enhance development of therapies for DMD, and the challenges to be overcome for clinical translation.

Summary: This Review and its accompanying comprehensive table summarize the most commonly used mouse models for a subset of highly studied muscular dystrophies.

Summary: Rigorous preclinical efficacy studies de-risk clinical trials in neuromuscular diseases. This Review summarizes the impact of expert panel advice on translational studies.

RESEARCH ARTICLES

Summary: Mouse models of prediabetes and type 2 diabetes that develop peripheral neuropathy display increased levels of nerve triglycerides, which return to normal upon dietary reversal, suggesting that altered lipids are involved in disease.

Summary: The authors describe a neuronal model to investigate how mutations in the copper transporter ATP7A cause axonal degeneration in the peripheral nervous system.

Summary: Here, we show that in X-linked myopathy with excessive autophagy there is increased fusion of myoblasts, which is not caused by the primary lysosomal acidification defect.

Editors' choice: Unlike boys with DMD, the mdx:Cmah−/− mouse shows increased weight gain and more rapid bone development; therefore, its utility for studying growth and skeletal development in DMD is limited.

Summary: Longitudinal phenotyping of the minipig model for Huntington's disease demonstrates a slow and age-dependent neurodegeneration.

Summary: The transgenic minipig model of Huntington's disease demonstrates a slow-progressing motor, cognitive and behavioral phenotype with later onset in adulthood.

Summary: The mdx mouse model of Duchenne muscular dystrophy (DMD) has in vivo abnormalities in cerebellar spike firing, which could contribute to the neurological symptoms observed in individuals with DMD.

Summary: We describe a mouse model (KI-STIM1I115F) that displays the clinical hallmarks of tubular aggregate myopathy. This model provides a new opportunity to characterize the disorder and test novel therapeutic strategies.

Summary: This study reports associations between symptom onset and the microbiome, immune system and epigenetic marks, establishing a time line that may pinpoint biomarkers of ALS for earlier diagnosis and therapeutic intervention.

Summary: The most common SGCG mutation that causes LGMD 2C has been modeled in mice using gene editing, providing a platform for preclinical evaluation of multi-exon antisense therapy.

Editors' choice: Skeletal muscle fiber development and function are dependent on additive as well as combinatorial interactions among ryanodine receptor calcium release channels.

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