Sentences with phrase «dystrophin leads»

Not exact matches

«There may be factors that lead to preferential localization of the dystrophin production.

A particular type of stem cell found in muscle can give rise to new muscle tissue, so a team led by geneticist Luis Garcia of Généthon, a nonprofit biotechnology firm in Évry, France, investigated whether these cells could be used to reverse the dystrophin problems.

Lead investigators David Burns and Ken O'Halloran at University College Cork, in conjunction with collaborator labs at the University of Calgary and Trinity College Dublin, performed experiments in mice lacking dystrophin, the muscle protein that malfunctions in DMD.

Muscle inactivation of mTOR causes metabolic defects and dystrophin downregulation leading to a severe myopathy

The team led by biomedical engineering professor Charles A. Gersbach used a mouse model suffering from a mutated exon of the dystrophin gene, programming CRISPR / CAS9 — a bacterial - protein derived process of cutting and pasting DNA portions — to snip out the defective exon.

In the absence of dystrophin, the polarity effector Par1b is dysregulated, leading to the failure of Par3 to become localized to the cortex associated with the basal lamina.

This discovery led to the identification of the dystrophin protein, a key member of a membrane complex of proteins.

Dr. Davies» work also led to the characterization of the protein utrophin, a relative of dystrophin.

Within the mutational hotspot for dystrophin, exons 45 - 55, there are multiple common deletions that maintain the protein's reading frame, leading to the production of a smaller, but at least partially functional protein.