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Sentences for "ataxia "
The product of the Ataxia Telangiectasia gene, the ATM protein kinase [ 9], directly phosphorylates serine 15 of the p53 protein in response to Ionizing Radiation [ 10, 11].
In these animals exon 3 and its splice acceptor were deleted, causing a rare intergenic transcript between Prion and Doppel to be highly upregulated and abnormally expressed in the brain, leading to late-onset ataxia and Purkinje cell degeneration [ 34 ] .
21 Freidrich's ataxia region.
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 ] .
Mutations in the P/Q-type Ca(2+)-channel alpha 1A-subunit gene on 19q12 cause familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6 (MIM 141500) [ 51 52 ] .
Iron-storage disorders Friedreich's ataxia also falls into the category of a class II mtDNA damage/repair disorder.
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].
The shortest one is only 26 bp, and the longest one is 6,735 bp, which covers the human spastic ataxia of Charlevoix-Saguenay (sacsin) gene.
Locomotor Ataxia 640
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