The incidence of ataxia-telangiectasia
is about 1 case in 100,000 births.
Schiestl, "Experimental antioxidant therapy in ataxia-telangiectasia
," Clinical Medicine: Oncology, vol.
CEO of Recursion Pharmaceuticals remarked: “We are grateful to the A-T Children's Project for this award which will enable us to rapidly deploy our innovative drug discovery technology towards Ataxia-telangiectasia
Localization of an ataxia-telangiectasia
gene to chromosome 11q22-23.
Impaired IgG antibody production to pneumococcal polysaccharides in patients with ataxia-telangiectasia
Cancer in patients with ataxia-telangiectasia
and in their relatives in the nordic countries.
mutated (ATM) gene is located on the 11q22 and 11q23 bands and encodes a nuclear 370-kd phosphoprotein associated with chromosomal regions containing double-strand breaks.
This work was supported by grants from the US NIH (NS36343) and the Ataxia-Telangiectasia
Medical Research Foundation (Los Angeles, CA).
Sublocalization of an ataxia-telangiectasia
gene distal to D11S384 by ancestral haplotyping in Costa Rican families.
Members of the phosphatidylinositol 3-kinase--related kinase (PIKK) family such as DNA-activated protein kinase (DNA-PK) and ataxia-telangiectasia
mutated (ATM) have been implicated in the phosphorylation of p53 at Ser15 (Giaccia and Kastan 1998; Lakin and Jackson 1999; Meek 1998).
Joey suffers from Ataxia-Telangiectasia
, or AT, a rare genetic disorder.
The most commonly tested genetic disorders include the spinocerebellar ataxias or SCAs, Friedreich's ataxia, and ataxia-telangiectasia
and cellular responses to DNA damage.
Children who have mutations in both their copies of the human version of this gene suffer from a fatal condition called ataxia-telangiectasia
, marked in its early stages by slurred speech and involuntary movements.
The report in PLoS, Donor-Derived Brain Tumor Following Neural Stem Cell Transplantation in an Ataxia Telangiectasia Patient, describes the development of multifocal glioneuronal neoplasms along the spinal nerves and brain stem in a 13-year-old patient who underwent repeated transplantation procedures in an attempt to treat ataxia-telangiectasia