Publications by authors named "G Nogales-Gadea"
Article Synopsis
- * DM1 happens because of a problem with a gene that leads to muscle issues by decreasing a protein called MBNL1. AntimiRs can help increase this protein but need to be made better for human use.
- * The treatment helped improve muscle cell problems and reduced harmful molecules in the cells, showing promise for helping different types of DM1 patients with varying genetic backgrounds.
Article Synopsis
- Researchers created three immortalized muscle cell lines from DM1 patients with different subtypes to study the disease more accurately.
- These cell lines exhibited key characteristics of DM1, including RNA foci accumulation, altered splicing, and changes in myogenic markers.
- The new models displayed significant genetic diversity among the samples and successfully responded to existing therapies, making them valuable for studying DM1 and testing future treatments.
Background: McArdle disease is caused by myophosphorylase deficiency and results in complete inability for muscle glycogen breakdown. A hallmark of this condition is muscle oxidation impairment (e.g.
View Article and Find Full Text PDFMyotonic dystrophy type 1 (DM1; MIM #160900) is an autosomal dominant disorder, clinically characterized by progressive muscular weakness and multisystem degeneration. The broad phenotypes observed in patients with DM1 resemble the appearance of an accelerated aging process. However, the molecular mechanisms underlying these phenotypes remain largely unknown.
View Article and Find Full Text PDF