Article

Ataxia Telangiectasia triggers deficits in Reelin pathway

2018-06-02

Abstract excerpt

Autosomal recessive Ataxia Telangiectasia (A-T) is characterized by radiosensitivity, immunodeficiency and cerebellar neurodegeneration. A-T is caused by inactivating mutations in the Ataxia-Telangiectasia-Mutated (ATM) gene, a serine-threonine protein kinase involved in DNA-damage response and excitatory neurotransmission. The selective vulnerability of cerebellar Purkinje neurons (PN) to A-T is not well understo...

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Literature Corpus work: 3da8a50d-f365-5143-86bc-6b6246e8d8ff
DOI: 10.1101/336842

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