The BJC is owned by Cancer Research UK, a charity dedicated to understanding the causes, prevention and treatment of cancer and to making sure that the best new treatments reach patients in the clinic as quickly as possible. The journal reflects these aims. It was founded more than fifty ...
Causes and symptoms Causes The gene for FA codes for a protein called frataxin. Normal frataxin is found in the cellular energy structures known as mitochondria, where it is thought to be involved in regulating the transport of iron. In FA, the frataxin gene on chromosome 9 is expanded with...
Ataxia-Telangiectasia: A Cellular and Molecular Link Between Cancer, Neuropathology, and Immune Deficiency The BJC is owned by Cancer Research UK, a charity dedicated to understanding the causes, prevention and treatment of cancer and to making sure that the best new treatments reach patients in the...
nongenetic causes of ataxia, such as alcoholism, vitamin defi- ciencies, multiple sclerosis, vascular disease, primary or met- astatic tumors, and paraneoplastic diseases associated with occult carcinoma of the ovary, breast, or lung, and the idiopathic degenerative disease multiple system atrophy (...
However, the homozygous disruption of the mouse frataxin gene causes embryonic lethality but no iron accumulation[11]. View article Friedreich Ataxia Friedreichataxiais anautosomal recessive disordercaused by mutations in thefrataxingene. Patients usually have ataxia with significant, but variable, progressi...
Etiology and PathogenesisCauses overexpression mutation of excess GAA repeats in intron 1 of FXN gene on chromosome 9, leading to decreased expression of frataxin ( 1, 2) 98% homozygous normal GAA repeats are < 40 triplets disease-associated repeats range 70 to > 1,000 triplets (most often...
Common causes of stroke come from blood vessels both outside and inside the brain. Atherosclerosis (hardening of the arteries) can occur when plaque (deposits of cholesterol, calcium, fat, and other substances) builds up and narrows the vessel, making it easy for clots to form and further occ...
Subjects:Any aspect of both inherited and sporadic progressive ataxias including Friedreich’s ataxia and other cerebellar ataxias. Purpose:To further research into causes and treatments for prevention of progressive ataxias. Eligibility:Proposals are accepted from academic institutions, private sector resea...
A-T is an autosomal recessive primary immunodeficiency (PID) disease caused by mutations in theATMgene that encodes a serine/threonine protein kinase; theATMgene is located on chromosome 11q22-23.[2]The mutatedATMgene causes aberrant repairing of the breaks in double-strand DNA. Because of this...
This asser- tion is further confirmed by a report that disruption of mouse Rad50, encoding the third component of the MRN (MRX in yeast) complex consisting of Mre11, Rad50, and Nbs1 (aka nibrin and p95; Xrs2 in yeast), also causes embryonic stem Figure 1. Schematic representation of ...