Words similar to ataxia
Example sentences for: ataxia
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Although the formation of intranuclear inclusions has not been observed in previous studies of Ras-related GTPases, it is a common feature of several neurodegenerative disorders where abnormal proteins containing poly-Gln tracts are synthesized as a result of CAG codon expansions [ 52 ] . Examples include Huntington's disease (huntingtin) [ 53 54 ] , spinocerebellar ataxia (SCA) types 1 and 3 (ataxin-1 and ataxin-3) [ 55 56 ] and dentatorubral-pallidoluysian atrophy (atrophin-1) [ 57 ] . These poly-Gln protein aggregates typically contain ubiquitin [ 58 ] and members of the Hsp70 chaperone family [ 59 ] , consistent with a proposed pathway for cellular clearance of toxic misfolded proteins.
This other half of iron homeostasis could also easily have a role in Friedreich's ataxia and X-linked sideroblastic anemia.
SCA8 , an untranslated transcript implicated in spinocerebellar ataxia type 8, overlaps the 5' translation and transcription sites of KLHL1 , a gene primarily expressed in the cerebellum [ 12].
Friedreich's ataxia also falls into the category of a class II mtDNA damage/repair disorder.
The human FHIT gene, located at the chromosome 3 fragile site FRA3B, is inactivated early in the development of many tumors [ 1 ] . Murine Fhit is also located at a fragile site [ 2 3 ] and mice heterozygous for disruption of Fhit , given low intragastric doses of the mutagen N-nitrosomethylbenzylamine, develop stomach and sebaceous tumors [ 4 ] that can be prevented by viral Fhit expression [ 5 ] . Fhit, a dimer of 147 amino acid subunits, is a member of the histidine triad (HIT) superfamily of nucleotide hydrolases and transferases [ 6 7 ] . Members of the Hint branch of the HIT superfamily are found in all forms of life [ 8 ] . The S. cerevisiae Hint homolog, Hnt1, and rabbit Hint possess adenosine monophosphoramidase activity that functions in yeast to positively regulate function of Kin28, Ccl1 and Tfb3, which constitute the kinase component of general transcription factor TFIIH [ 9 ] . A new Hint related protein, Aprataxin, is mutated in individuals with ataxia with oculomotor apraxia [ 10 11 ] and has a yeast homolog termed Hnt3 [ 9 ] . Members of the Fhit branch of the HIT superfamily have been found in fungi [ 12 13 ] , animals [ 2 14 15 ] and plants [ 7 ] and hydrolyze diadenosine tetraphosphate, diadenosine triphosphate and other 5'-5"'-dinucleoside polyphosphates.
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