Cloning of the spinocerebellar ataxia type 1 gene: implication for studying neurodegeneration
Dr. Zoghbi was honored for her work on the molecular basis of inherited neurologic disorders. Her contributions led to the cloning and characterization of the gene for spinocerebellar ataxia type I. Her lab was the first to show a correlation between disease severity and length of triplet repeat in these disorders.
Dr. Zoghbi’s nomination was based on the following publications:
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993 Jul;4(3):221-6. Chung
MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet. 1993 Nov;5(3):254-8.
Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 1994 Aug;7(4):513-20.
Ranum L PW, Chung MY , Banfi S, Bryer A , Schut LJ, Ramesar R, Duvick LA, McCall AE, Subramony SH, Goldfarb L, Gomez C, Sandkuijl LA. ,Orr HT, and Zoghbi HY. 1994. Molecular and clinical correlations in spinocerebellar ataxia type 1 (SCA1): Evidence for familial effects on the age of onset. Am. J. Hum. Genet. 55: 244-252.