AUGUSTA, Ga. (August 17, 2021) – In one type of a rare, inherited genetic disorder that affects control of body movement, scientists have found a mutation in an enzyme impairs communication between ...

A new study finds enhanced activity of a specific enzyme drives spinocerebellar ataxia type 14, which suggests inhibiting the enzyme may have therapeutic potential. pinocerebellar ataxias are a group ...

In one type of a rare, inherited genetic disorder that affects control of body movement, scientists have found a mutation in an enzyme that impairs communication between neurons and what should be the ...

Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a form of a genetic disease known as ...

An international research team has published a study in the journal The FEBS Journal that significantly advances the knowledge of a rare hereditary metabolic disease: classical homocystinuria. The ...

Figuring out how a protein or enzyme works, and understanding how genetic mutations affect these molecules that are fundamental to life, can often take years. Researchers must alter hundreds of the ...

UCSF researchers report that they were able to slow the growth of human cancer cells - or cause them to commit suicide altogether -- by creating just a miniscule mutation in the telomerase enzyme. The ...

SOME mutant genes involving loss of function are known to be capable of reversion at the specific locus; this fact implies that in mutant organisms particular genes are not necessarily destroyed, but ...