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Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA d...
Gao, Rui; Liu, Yongping; Fernandes, Anabela Silva; Fang, Xiang; Paulucci- Holthauzen, Adriana; Chatterjee, Arpita; Zhang, Hang L.; Matsuura, TohruSpinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an untreatable autosomal dominant neurodegenerative disease, and the most common such inherited ataxia worldwide. The mutation in SCA3 is the expansion of a polymorphic CAG tri-nucleotide repeat sequence in the C-terminal coding region of the ATXN3 gene at chromosomal locus 14q32.1. The mutant ATXN3 protein encoding expanded gl...
The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-ph...
Chatterjee, Arpita; Saha, Saikat; Chakraborty, Anirban; Silva-Fernandes, Anabela; Mandal, Santi M.; Neves-Carvalho, Andreia; Liu, YongpingDNA strand-breaks (SBs) with non-ligatable ends are generated by ionizing radiation, oxidative stress, various chemotherapeutic agents, and also as base excision repair (BER) intermediates. Several neurological diseases have already been identified as being due to a deficiency in DNA end-processing activities. Two common dirty ends, 3'-P and 5'-OH, are processed by mammalian polynucleotide kinase 3'-phosphatase...
Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families
Teive, Hélio A. G.; Munhoz, Renato P.; Arruda, Walter O.; Lopes-Cendes, Iscia; Raskin, Salmo; Werneck, Lineu C.; Ashizawa, TetsuoOBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias. METHODS: We studied 150 patients from 104 families with spinocerebellar ataxia...