machado-joseph disease/phosphatase

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The role of the mammalian DNA end-processing enzyme polynucleotide kinase 3'-phosphatase in spinocerebellar ataxia type 3 pathogenesis.

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DNA 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

Linkage to Tourette syndrome is excluded for red-cell acid phosphatase (ACP1) and flanking markers on chromosome 2pter-2p23.

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A recent linkage study of Tourette syndrome with markers in the distal region of chromosome 2p gave a contradictory result with red-cell acid phosphatase (ACP1) compared to the nearby anonymous DNA markers. A modifier gene that is suspected of leading to reduced penetrance of the gene that causes

Deficiency in classical nonhomologous end-joining-mediated repair of transcribed genes is linked to SCA3 pathogenesis.

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Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by CAG (encoding glutamine) repeat expansion in the Ataxin-3 (ATXN3) gene. We have shown previously that ATXN3-depleted or pathogenic ATXN3-expressing cells abrogate polynucleotide kinase

Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3.

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Spinocerebellar 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

Multiplex families with multiple system atrophy.

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BACKGROUND Multiple system atrophy (MSA) has been considered a sporadic disease, without patterns of inheritance. OBJECTIVE To describe the clinical features of 4 multiplex families with MSA, including clinical genetic aspects. METHODS Clinical and genetic study. METHODS Four departments of

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