Increased serum levels in adults are also seen in acute hepatitis, colitis and ataxia telangiectasia. Increased serum levels of ...

... spastic ataxia. Disorder subdivisions: Friedreich's ataxia, spinocerebellar ataxia, ataxia telangiectasia, vasomotor ataxia, ... Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), ... Clinical trial number NCT03759678 for "N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)" at ClinicalTrials.gov Clinical trial ... The symptoms of an ataxia vary with the specific type and with the individual patient. In many cases a person with ataxia ...

November 2000). "Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked ... GeneReviews/NCBI/NIH/UW entry on Ataxia with Oculomotor Apraxia Type 2 OMIM entries on Ataxia with Oculomotor Apraxia Type 2 ... SETX was found to be mutated in juvenile ataxia with oculomotor apraxia type 2 (AOA2) and juvenile form of amyotrophic lateral ... March 2004). "Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2". Nature Genetics. 36 (3): ...

"N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T) - Full Text View - ClinicalTrials.gov". clinicaltrials.gov. Retrieved 2019- ... and ataxia-telangiectasia. In 2020, IntraBio announced the successful multinational clinical trial results of the Niemann-Pick ... Acetylleucine is a modified amino acid used in the treatment of vertigo and cerebellar ataxia. Acetylleucine is also being ...

"Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia ...

"Identification and Characterization of a Novel and Specific Inhibitor of the Ataxia-Telangiectasia Mutated Kinase ATM". Cancer ...

A rare genetic condition called Ataxia Telangiectasia can also result in higher levels of AFP in people. Kal-Koshvandi AT (July ...

... translocation in leukemic T-cells of an ataxia telangiectasia patient". Proc Natl Acad Sci U S A. 86 (2): 602-6. Bibcode: ...

April 2000). "Caffeine abolishes the mammalian G(2)/M DNA damage checkpoint by inhibiting ataxia-telangiectasia-mutated kinase ... ataxia-telangiectasia and Rad3 related) kinase that responds primarily to single-strand breaks. In mice, CHEK2 is essential for ...

Crescenzi E, Palumbo G, de Boer J, Brady HJ (March 2008). "Ataxia telangiectasia mutated and p21CIP1 modulate cell survival of ...

"A gene on chromosome Xq28 associated with T-cell prolymphocytic leukemia in two patients with ataxia telangiectasia". Leukemia ...

... a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product". Cell. 82 (5): 849-856. doi:10.1016/ ...

... immune response transcription factor relish is necessary for neurodegeneration in a Drosophila model of ataxia-telangiectasia ... spinocerebellar ataxia and Alzheimer's disease. The fly is also being used to study mechanisms underlying aging and oxidative ...

Other areas of research include hereditary diffuse gastric cancer, small cell carcinoma of the ovary and Ataxia Telangiectasia ...

December 1999). "The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like ...

1999). "The DNA Double-Strand Break Repair Gene hMRE11 is Mutated in Individuals with an Ataxia-Telangiectasia-like Disorder". ...

... has been shown to interact with HDAC1, Histone deacetylase 2, MTA2, SATB1 and Ataxia telangiectasia and Rad3 related. ...

1997). "Construction of a transcription map around the gene for ataxia telangiectasia: identification of at least four novel ...

The inherited neurological disorders Machado-Joseph disease, ataxia telangiectasia, and Friedreich's ataxia cause progressive ... "NINDS Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page". National Institutes of Health. 16 April 2014. ... This complex of motor symptoms is called ataxia. To identify cerebellar problems, neurological examination includes assessment ... Cerebellum and Ataxias - Journal (BioMed Central) (CS1 maint: others, CS1 Spanish-language sources (es), CS1 errors: periodical ...

Insensitivity in the NF-κB pathway is correlated to arthritis, asthma, inflammatory bowel disease, ataxia telangiectasia, ...

"53BP1 and NFBD1/MDC1-Nbs1 function in parallel interacting pathways activating ataxia-telangiectasia mutated (ATM) in response ...

"Cell-surface expression of transrearranged Vgamma-cbeta T-cell receptor chains in healthy donors and in ataxia telangiectasia ...

Ataxia telangiectasia and Rad3 related (ATR) is activated earlier when it detects ssDNA in the earlier phases of DNA re- ... Ataxia telangiectasia mutated (ATM) activates after a larger amount of DSBs is detected at later stages of DNA re-replication. ...

TERF1 has been shown to interact with: Abl gene, Ataxia telangiectasia mutated, MAPRE1, NME1, PINX1 SALL1, TINF2, TNKS2, and ... Ataxia telangiectasia mutated, a protein kinase), PINX1 (TERF1-interacting telomerase inhibitor 1), TINF2 (TERF1-interacting ...

The human ATM gene is responsible for the human autosomal-recessive disorder ataxia-telangiectasia and is located on chromosome ...

Ataxia telangiectasia mutated, ATR and DNA-PKcs) are responsible for this phosphorylation, especially ATM. The modification can ...

These include ataxia-telangiectasia, Nijmegen breakage syndrome, some subgroups of xeroderma pigmentosum, trichothiodystrophy, ...

ATR, which stands for Ataxia telangiectasia and Rad3 related, regulates how cells respond to stress and can help promote DNA ...

... the ataxia telangiectasia mutated ATM kinase, and 53BP1. Because Artemis can remove damaged ends from DNA, it has been proposed ... "Endogenously induced DNA double strand breaks arise in heterochromatic DNA regions and require ataxia telangiectasia mutated ...

Ataxia Telangiectasia and other conditions.[citation needed] In addition to raising money for rehabilitative services for their ...