Ataxia-telangiectasia
... (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis-Bar syndrome, is a rare, ... No curative medication has been approved for the treatment of inherited cerebellar ataxias, including Ataxia-Telangiectasia. N- ... Ataxia-oculomotor apraxia type 2 (AOA2 also known as SCAR1) Ataxia-telangiectasia like disorder (ATLD) Nijmegen breakage ... Most often the ataxia appears between 10 and 15 years of age, and differs from A-T by the absence of telangiectasia and ...
Ataxia-telangiectasia group D complementing
... (ATDC) is a gene implicated in ataxia-telangiectasia. It is involved in a mouse ... Tauchi H, Green C, Knapp M, Laderoute K, Kapp L (2000). "Altered splicing of the ATDC message in ataxia telangiectasia group D ... Laderoute KR, Knapp AM, Green CJ, Sutherland RM, Kapp LN (1996). "Expression of the ATDC (ataxia telangiectasia group D- ... "The product of the ataxia-telangiectasia group D complementing gene, ATDC, interacts with a protein kinase C substrate and ...
Ataxia telangiectasia and Rad3 related
Ataxia telangiectasia and Rad3-related protein has been shown to interact with: BRCA1, CHD4, HDAC2, MSH2, P53 RAD17, and RHEB. ... Gatei M, Zhou BB, Hobson K, Scott S, Young D, Khanna KK (May 2001). "Ataxia telangiectasia mutated (ATM) kinase and ATM and ... Serine/threonine-protein kinase ATR, also known as ataxia telangiectasia and Rad3-related protein (ATR) or FRAP-related protein ... Chen J (September 2000). "Ataxia telangiectasia-related protein is involved in the phosphorylation of BRCA1 following ...
Therapeutic index
Patients with Ataxia telangiectasia delays have hypersensitivity to radiation due to the delay of accumulation of p53. In this ... "Ataxia Telangiectasia". National Cancer Institute. Retrieved 2016-04-11. Soriani RR, Satomi LC, Pinto Td (2005-07-01). "Effects ...
DNA ligase
"ataxia-telangiectasia". Genetics Home Reference. Retrieved 2017-05-15. "What Is Fanconi Anemia?". NHLBI, NIH. Retrieved 2017-05 ... Mutations in the ATM gene cause ataxia-telangiectasia. The ATM gene provides instructions for making a protein that helps ...
Royal Papworth Hospital
... the ataxia telangiectasia service; services for patients with pulmonary fibrosis, vasculitis, and rare diseases including ...
Alpha-fetoprotein
Taylor AM, Byrd PJ (October 2005). "Molecular pathology of ataxia telangiectasia". Journal of Clinical Pathology. 58 (10): 1009 ... the liver Nonseminomatous germ cell tumors Yolk sac tumor Other conditions associated with elevated AFP Ataxia telangiectasia: ...
Short-limb skeletal dysplasia with severe combined immunodeficiency
McKusick, V. A.; Cross, H. E. (1966-02-28). "Ataxia-telangiectasia and Swiss-type agammaglobulinemia. Two genetic disorders of ...
Stem cell theory of aging
1996). "Accelerated telomere shortening in ataxia telangiectasia". Nat. Genet. 13 (3): 350-353. doi:10.1038/ng0796-350. PMID ...
Niemann-Pick disease, type C
"N-Acetyl-L-Leucine for Ataxia-Telangiectasia". clinicaltrials.gov. Retrieved 2019-08-01. "IntraBio". Archived from the original ... and Ataxia-Telangiectasia. Future opportunities to develop N-Acetyl-Leucine include Lewy body dementia, amyotrophic lateral ... and ataxia telangiectasia". Trials. 22 (1): 84. doi:10.1186/s13063-020-05009-3. PMC 7821839. PMID 33482890. "IntraBio Receives ... Neurological signs and symptoms include cerebellar ataxia (unsteady walking with uncoordinated limb movements), dysarthria ( ...
Roberto Paganelli
Furthermore, his analysis of patients with ataxia-telangiectasia revealed a range of immune system abnormalities including ... "Heterogeneity of immunological abnormalities in ataxia-telangiectasia". Journal of Clinical Immunology. 3 (2): 135-141. doi: ...
GM2 gangliosidoses
"N-Acetyl-L-Leucine for Ataxia-Telangiectasia". clinicaltrials.gov. Retrieved 2019-08-01. "IntraBio". Archived from the original ... parallel clinical trials with N-Acetyl-L-Leucine for the treatment of Niemann-Pick disease type C and Ataxia-Telangiectasia. ...
NPAT (gene)
"Entrez Gene: NPAT nuclear protein, ataxia-telangiectasia locus". Zheng L, Roeder RG, Luo Y (Jul 2003). "S phase activation of ... half of the gene for ataxia telangiectasia". Human Molecular Genetics. 5 (1): 145-9. doi:10.1093/hmg/5.1.145. PMID 8789452. ...
Penelope Jeggo
"The Ataxia-Telangiectasia Society Annual Report and Accounts" (PDF). 2014. "Information for ICRR2015". Journal of Radiation ... In 2014, Jeggo was the chair of the Scientific Advisory Board for the Ataxia-Telangiectasia Society. Jeggo was an invited ... She found that a mutation in ataxia telangiectasia mutated kinase (ATM) causes damage to DNA and chromatin structure. Jeggo's ... In her most recent publication, Jeggo worked with other researchers on the Ataxia telangiectasia and Rad3 related protein (ATR ...
EZH2
... ataxia telangiectasia. EZH2 is the catalytic subunit of the Polycomb Repressive Complex 2 (PRC2). EZH2's catalytic activity ... "EZH2-mediated H3K27 trimethylation mediates neurodegeneration in ataxia-telangiectasia". Nature Neuroscience. 16 (12): 1745- ...
SH3D21
However, research has linked SH3D21 expression changes to male infertility and Ataxia Telangiectasia. Further studies have ... "Newborn screening for SCID identifies patients with ataxia telangiectasia". Journal of Clinical Immunology. 33 (3): 540-9. doi: ...
Nuclease
Mutations of Mre11 can precipitate ataxia-telangiectasia-like disorder. V(D)J recombination involves opening stem-loops ...
Thymic hypoplasia
... and ataxia telangiectasia. Bhalla P, Wysocki CA, van Oers NS (May 2020). "Molecular Insights Into the Causes of Human Thymic ... "Malignant disease and variations in radiosensitivity in ataxia telangiectasia patients.". Genetic predisposition to cancer 1996 ...
FANCD2
... has been shown to interact with: FANCI Ataxia telangiectasia mutated, BARD1, BRCA1. BRCA2, FANCE, HTATIP, and MEN1. ... Castillo P, Bogliolo M, Surralles J (May 2011). "Coordinated action of the Fanconi anemia and ataxia telangiectasia pathways in ... May 2002). "Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways". Cell. 109 (4): 459-72. doi:10.1016 ... May 2002). "Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways". Cell. 109 (4): 459-72. doi:10.1016 ...
X-Quisite
He had been suffering for many years of Ataxia telangiectasia. She also came out some time later as a lesbian. She has made a ...
PLK3
Matsuoka S, Rotman G, Ogawa A, Shiloh Y, Tamai K, Elledge SJ (2000). "Ataxia telangiectasia-mutated phosphorylates Chk2 in vivo ...
Aprataxin
1989). "Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia". Ann. Neurol. 24 (4): 497-502. doi:10.1002/ana ... GeneReviews/NCBI/NIH/UW entry on Ataxia with Oculomotor Apraxia Type 1 OMIM entries on Ataxia with Oculomotor Apraxia Type 1 ... 2005). "The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break ... Ataxia oculomotor apraxia-1 is a neurological disorder caused by mutations in the APTX gene that encodes aprataxin. The ...
Michael Stratton
August 2006). "ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles". Nat. Genet. 38 (8): ...
Oleg Prokofiev
His son Rupert died in 2017 aged 31 from ataxia-telangiectasia. Oleg Prokofiev died in 1998 aged 69, while on holiday on the ...
Oculomotor apraxia
Ataxia telangiectasia results from defects in the ataxia telangiectasia mutated gene, which can cause abnormal cell death in ... These are ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia 2 (AOA2), and ataxia telangiectasia. ... Patients with ataxia telangiectasia have prolonged vertical and horizontal saccade latencies and hypometric saccades, and, ... Ataxia-oculomotor apraxia type 2 (AOA2), also known as spinocerebellar ataxia with axonal neuropathy type 2, has its onset ...
RRM2B
... has been shown to interact with Mdm2 and Ataxia telangiectasia mutated. Abnormalities in this gene are one of the causes ...
Linked-read sequencing
"DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype". Scientific Reports. 10 (1 ...
Periannan Senapathy
"Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences". The American Journal of Human ...
Rad50
2000). "Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products". Nature. 405 (6785): 473-7 ...
RBBP8
Li S, Ting NS, Zheng L, Chen PL, Ziv Y, Shiloh Y, Lee EY, Lee WH (2000). "Functional link of BRCA1 and ataxia telangiectasia ... "Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response". Nature. 406 (6792): 210-5. doi:10.1038 ...