Ataxin-3, DNA Damage Repair, and SCA3 Cerebellar Degeneration: On the Path to Parsimony?

Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3

(2015) Rui Gao et al.   PLoS Genetics

The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3’-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis

(2015) Arpita Chatterjee et al.   PLoS Genetics

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

(2012) Cathryn Poulton et al.   NEUROGENETICS

FOXO4-dependent upregulation of superoxide dismutase-2 in response to oxidative stress is impaired in spinocerebellar ataxia type 3

(2011) Julieta Araujo et al.   HUMAN MOLECULAR GENETICS

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(2010) Jun Shen et al.   NATURE GENETICS

p53 activation mediates polyglutamine-expanded ataxin-3 upregulation of Bax expression in cerebellar and pontine nuclei neurons

(2010) An-Hsun Chou et al.   NEUROCHEMISTRY INTERNATIONAL

Native Functions of the Androgen Receptor Are Essential to Pathogenesis in a Drosophila Model of Spinobulbar Muscular Atrophy

(2010) Natalia B. Nedelsky et al.   NEURON

Identification of a Small Molecule Inhibitor of the Human DNA Repair Enzyme Polynucleotide Kinase/Phosphatase

(2009) G. K. Freschauf et al.   CANCER RESEARCH

The Deubiquitinating Enzyme Ataxin-3, a Polyglutamine Disease Protein, Edits Lys63Linkages in Mixed Linkage Ubiquitin Chains

(2008) Brett J. Winborn et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

(2008) Janghoo Lim et al.   NATURE