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• W3204662244 startingPage "733" @default.
• W3204662244 abstract "Abstract Congenital muscular dystrophy type 1A (MDC1A), the most common congenital muscular dystrophy in Western countries, is caused by recessive mutations in LAMA2, the gene encoding laminin alpha 2. Currently, no cure or disease modifying therapy has been successfully developed for MDC1A. Examination of patient muscle biopsies revealed altered distribution of lysosomes. We hypothesized that this redistribution was a novel and potentially druggable aspect of disease pathogenesis. We explored this hypothesis using candyfloss (caf), a zebrafish model of MDC1A. We found that lysosome distribution in caf zebrafish was also abnormal. This altered localization was significantly associated with fiber detachment and could be prevented by blocking myofiber detachment. Overexpression of transcription factor EB, a transcription factor that promotes lysosomal biogenesis, led to increased lysosome content and decreased fiber detachment. We conclude that genetic manipulation of the lysosomal compartment is able to alter the caf zebrafish disease process, suggesting that lysosome function may be a target for disease modification." @default.
• W3204662244 created "2021-10-11" @default.
• W3204662244 creator A5006320084 @default.
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• W3204662244 creator A5081348480 @default.
• W3204662244 date "2021-09-25" @default.
• W3204662244 modified "2023-10-14" @default.
• W3204662244 title "Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy" @default.
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