Novel gene therapy shows promise for targeting epilepsy-linked mutation
Clearance of mutant protein and restoration of normal neuronal activity by Gapmer ASO. Credit: NUS Medicine Researchers at the Yong ...
Tag: mutation
Scientists decode a key mutation in many cancers, highlighting the increased role of RNA in human gene expression
Credit: Unsplash/CC0 Public domain Inside every cell, inside every nucleus, your existence depends on an incredibly complicated dance. Proteins are ...
Brain cell types affected differently by Rett syndrome mutation, researchers find
Smaller and more circularized mitochondria in glia of RTT brain organoids. Credit: Scientific reports (2024). DOI: 10.1038/s41598-024-71040-y Rett syndrome is ...
Discovery brings answers to parents of children with rare neurological genetic mutation
MRI images of people with epileptic encephalopathy. Credit: The Neuro Shortly after Kelly Cervantes' daughter Adelaide was born, she began ...
Discovery of new TNIP1 gene mutation offers new hope for disease that can lead to blindness
These findings could lead to new treatments for Sjögren's syndrome and lupus caused by TNIP1 gene variants. Credit: Tracey Nearmy/ANU ...
She contracts 12 tumors and survives thanks to a genetic mutation!
This rare case of genetic mutation gives the patient a special immune system that fights tumors. Researchers believe that understanding ...
a mutation in mitochondrial DNA could protect against disease
The potential beneficial mutation against Parkinson's disease is a small mitochondrial protein that could play a key role in the ...
Researchers trace a form of lupus to a single mutation
In this cell, Toll-like receptor 7 was colored pink in order to analyze its quantity and position under the microscope. ...
Scientists discover 13 distinct DNA mutation risk patterns with implications for cancer progression
Credit: Pixabay/CC0 Public domain Mutations, which continually occur in every cell of our body, are major contributors to cancer, aging ...
Newly discovered genetic mutation protects against Parkinson’s disease and offers hope for new therapies
Credit: Unsplash/CC0 Public domain A previously unidentified genetic mutation in a small protein provides significant protection against Parkinson's disease and ...
