Avnika A. Ruparelia
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View article: Redundant and novel functions of scube genes during zebrafish development
Redundant and novel functions of scube genes during zebrafish development Open
The N-glycoprotein SCUBE family (Scube1, Scube2, and Scube3) plays diverse roles in vertebrate development and disease, yet many specific functions of the three family members remain unclear. These proteins exhibit broad tissue expression …
View article: Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient
Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patient Open
To produce an in vitro model of Bethlem myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous COL6A1 c.1056 + 2T > A mutation at the exon/intron 14 boundary of the COL6A1 gene to induced …
View article: Atrogin-1 promotes muscle homeostasis by regulating levels of endoplasmic reticulum chaperone BiP
Atrogin-1 promotes muscle homeostasis by regulating levels of endoplasmic reticulum chaperone BiP Open
Skeletal muscle wasting results from numerous pathological conditions affecting both the musculoskeletal and nervous systems. A unifying feature of these pathologies is the upregulation of members of the E3 ubiquitin ligase family, resulti…
View article: Skeletal Muscle Aging: Lessons From Teleosts
Skeletal Muscle Aging: Lessons From Teleosts Open
Aging is the greatest risk factor for a multitude of age-related diseases including sarcopenia—the loss of skeletal muscle mass and strength—which occurs at remarkable rates each year. There is an unmet need not only to understand the mech…
View article: KBTBD13 is an actin-binding protein that modulates muscle kinetics
KBTBD13 is an actin-binding protein that modulates muscle kinetics Open
View article: Standardization of zebrafish drug testing parameters for muscle diseases
Standardization of zebrafish drug testing parameters for muscle diseases Open
Skeletal muscular diseases predominantly affect skeletal and cardiac muscle, resulting in muscle weakness, impaired respiratory function and decreased lifespan. These harmful outcomes lead to poor health-related quality of life and carry a…
View article: Featured Cover
Featured Cover Open
Cover legend: The cover image is based on the Research Article The African killifish: A short‐lived vertebrate model to study the biology of sarcopenia and longevity by Avnika A. Ruparelia et al., https://doi.org/10.1111/acel.13862 [Image:…
View article: The African killifish: A short‐lived vertebrate model to study the biology of sarcopenia and longevity
The African killifish: A short‐lived vertebrate model to study the biology of sarcopenia and longevity Open
Sarcopenia, the age‐related decline in muscle function, places a considerable burden on health‐care systems. While the stereotypic hallmarks of sarcopenia are well characterized, their contribution to muscle wasting remains elusive, which …
View article: Metformin rescues muscle function in BAG3 myofibrillar myopathy models
Metformin rescues muscle function in BAG3 myofibrillar myopathy models Open
Dominant de novo mutations in the co-chaperone BAG3 cause a severe form of myofibrillar myopathy, exhibiting progressive muscle weakness, muscle structural failure, and protein aggregation. To elucidate the mechanism of disease in, …
View article: Metformin rescues muscle function in BAG3 myofibrillar myopathy models
Metformin rescues muscle function in BAG3 myofibrillar myopathy models Open
Dominant de novo mutations in the co-chaperone BAG3 cause a severe form of myofibrillar myopathy, exhibiting progressive muscle weakness, muscle structural failure, and protein aggregation. To elucidate the mechanism of disease in, …
View article: Metformin rescues muscle function in BAG3 myofibrillar myopathy models
Metformin rescues muscle function in BAG3 myofibrillar myopathy models Open
Dominant de novo mutations in the co-chaperone BAG3 cause a severe form of myofibrillar myopathy, exhibiting progressive muscle weakness, muscle structural failure, and protein aggregation. To elucidate the mechanism of disease in, …
View article: Metformin rescues muscle function in BAG3 myofibrillar myopathy models
Metformin rescues muscle function in BAG3 myofibrillar myopathy models Open
Dominant de novo mutations in the co-chaperone BAG3 cause a severe form of myofibrillar myopathy, exhibiting progressive muscle weakness, muscle structural failure, and protein aggregation. To elucidate the mechanism of disease in, …
View article: KBTBD13 is an actin-binding protein that modulates muscle kinetics
KBTBD13 is an actin-binding protein that modulates muscle kinetics Open
The mechanisms that modulate the kinetics of muscle relaxation are critically important for muscle function. A prime example of the impact of impaired relaxation kinetics is nemaline myopathy caused by mutations in KBTBD13 (NEM6). In addit…
View article: Metformin rescues muscle function in BAG3 myofibrillar myopathy models
Metformin rescues muscle function in BAG3 myofibrillar myopathy models Open
Dominant de novo mutations in the co-chaperone BAG3 cause a severe form of myofibrillar myopathy, exhibiting progressive muscle weakness, muscle structural failure, and protein aggregation. To identify therapies we generated two zebrafish …
View article: Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein
Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein Open
The lack of a mutant phenotype in homozygous mutant individuals' due to compensatory gene expression triggered upstream of protein function has been identified as genetic compensation. Whilst this intriguing process has been recognized in …
View article: Investigation of the pathobiology of myofibrillar myopathies in zebrafish
Investigation of the pathobiology of myofibrillar myopathies in zebrafish Open
Myofibrillar myopathies (MFMs) are a group of muscle diseases exhibiting progressive muscle weakness, and are characterised at the cellular level by structural failure of the muscle, and the formation of cytoplasmic protein aggregates. The…
View article: Using Touch-evoked Response and Locomotion Assays to Assess Muscle Performance and Function in Zebrafish
Using Touch-evoked Response and Locomotion Assays to Assess Muscle Performance and Function in Zebrafish Open
Zebrafish muscle development is highly conserved with mammalian systems making them an excellent model to study muscle function and disease. Many myopathies affecting skeletal muscle function can be quickly and easily assessed in zebrafish…
View article: Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization Open
View article: Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage
Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage Open
Filamin c (FLNc) is a large dimeric actin-binding protein located at premyofibrils, myofibrillar Z-discs and myofibrillar attachment sites of striated muscle cells, where it is involved in mechanical stabilization, mechanosensation and int…
View article: FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency
FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency Open
Myofibrillar myopathy is a progressive muscle disease characterized by the disintegration of muscle fibers and formation of protein aggregates. Causative mutations have been identified in nine genes encoding Z-disk proteins, including the …