Tsukuba, Japan—Studying the role of mitochondria—the specialized structures within cells responsible for energy production—in metabolic diseases has been difficult because of a lack of animal models ...
Studying the role of mitochondria—the specialized structures within cells responsible for energy production—in metabolic diseases has been difficult because of a lack of animal models with the ...
A study published in Nature Communications revealed a new antisense oligonucleotide (ASO) therapy applicable to the W1282X mutation of the cystic fibrosis transmembrane conductance regulator gene ...
New Computational Model Matches Drugs to Protein Synthesis Disruptors in Hereditary Diseases, Cancer
Genetic diseases that result from truncated proteins can be targeted by so-called nonsense suppression therapies—drugs that prevent protein translation from terminating prematurely. A new ...
A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers used ...
Scientists have discovered an additional potential cause of the genetic mutations that result in rare conditions such as Huntington’s disease (HD). The neurodegenerative diseases, which also include ...
Approximately 25 million individuals in the United States are affected by a rare genetic disorder, and a significant number of them face challenges not only due to the absence of effective treatments ...
Increased plaque forming capability of N protein mutant viruses carrying either S202R or R203M mutations A recent paper by Syed et al. demonstrates that mutations in the Nucleocapsid (N) protein, one ...
Researchers have developed the first mouse model for a mitochondrial tRNALeu mutation, showing that the associated metabolic disorder results from faulty RNA processing. Studying the role of ...
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