Researchers from the Huntington's Disease Center, UCL Queen Square Institute of Neurology, and UK DRI at UCL have taken major ...

lead to a range of human neuromuscular and ophthalmologic diseases. Loss of function of the TLS polymerase Pol η leads to xeroderma pigmentosum-variant, a DNA repair and cancer predisposition ...

The past 30 years have seen a great advancement in our understanding of the various DNA repair pathways, both in prokaryotes and in higher organisms. An updated inventory of about 150 human DNA ...

However, the mechanistic connections between mismatch DNA repair and selective neuronal vulnerability in Huntington's disease remained unknown. The new study from UCLA Health and Jane and Terry Semel ...

This process results in offspring with an inherited defect in DNA repair, which, depending on the genetic characteristics of the transmission, will either be expressed as a disease phenotype or ...

LIG4 syndrome is an exceptionally rare disorder caused by a genetic mutation that prevents the body from repairing damaged ...

Researchers say if their results are confirmed through further study they are optimistic the approach could be used to treat chronic infections for the first time.

Stanford scientists have identified 380 key genetic variants that significantly influence cancer development, filtering ...

Thousands of single changes in the nucleotides that make up the human genome have been associated with an increased risk of ...

But in the case of people with Huntington’s disease, some of these helper proteins may be attacking and destabilizing not viruses but the patients’ own DNA. This happens in parts of human DNA ...