Article

Loss of <i>TP73</i> function contributes to amyotrophic lateral sclerosis pathogenesis

2018-10-24

Abstract excerpt

Much remains unknown about the genetics and pathophysiology underlying the neurodegenerative disease amyotrophic lateral sclerosis (ALS). We analyzed exome sequences from a cohort of 87 sporadic ALS (SALS) patients and 324 healthy individuals. TP73 , a homolog of the TP53 tumor suppressor gene, had five rare deleterious protein-coding variants; in a separate collection of >2,900 ALS patients we identified an add...

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Literature Corpus work: 46af4881-59d6-5798-a496-1fd8ae01e1a1
DOI: 10.1101/451419

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