T
T. Ashizawa
Researcher at Veterans Health Administration
Publications - 21
Citations - 3791
T. Ashizawa is an academic researcher from Veterans Health Administration. The author has contributed to research in topics: Spinocerebellar ataxia & Myotonic dystrophy. The author has an hindex of 15, co-authored 21 publications receiving 3648 citations. Previous affiliations of T. Ashizawa include Howard Hughes Medical Institute & Baylor College of Medicine.
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Journal ArticleDOI
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α(1A)-voltage-dependent calcium channel
Olga Zhuchenko,Jennifer Bailey,Penelope E. Bonnen,T. Ashizawa,T. Ashizawa,David W. Stockton,Christopher I. Amos,William B. Dobyns,S. H. Subramony,Huda Y. Zoghbi,Cheng Chi Lee +10 more
TL;DR: It is concluded that a small polyglutamine expansion in the human α1A calcium channel is most likely the cause of a newly classified autosomal dominant spinocerebellar ataxia, SCA6.
Journal ArticleDOI
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
Tohru Matsuura,Tohru Matsuura,Takanori Yamagata,Daniel L. Burgess,Astrid Rasmussen,Raji P. Grewal,Kei Watase,Mehrdad Khajavi,Mehrdad Khajavi,Alanna E. McCall,Caleb F. Davis,Lan Zu,Madhureeta Achari,Stefan M. Pulst,Elisa Alonso,Jeffrey L. Noebels,David L. Nelson,Huda Y. Zoghbi,T. Ashizawa,T. Ashizawa +19 more
TL;DR: Analysis of chromosomes from unaffected individuals of various ethnic origins showed a range of 10 to 22 ATTCT repeats with no evidence of expansions, indicating that the new SCA10 intronic ATTCT pentanucleotide repeat inSCA10 patients is unstable and represents the largest microsatellite expansion found so far in the human genome.
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The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure.
TL;DR: Using cloned repeat sequences from FRDA patients, it is shown that the GAA repeat per se interferes with in vitro transcription in a length-dependent manner, with both prokaryotic and eukaryotic enzymes.
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Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses
TL;DR: Detailed analysis of intergenerational 'reductions' paternally transmitted to two offspring suggests that some apparent reductions may be artifacts of somatic expansion in the parent, as well as suggesting that large contractions, including reversions into the normal size range, are restricted to the germline.
Journal Article
Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.
TL;DR: Comparison of individual patient samples collected at two different times has confirmed that the degree of size heterogeneity increases with age and has revealed a subtle but definite upward shift in the size of the expanded-CTG allele.