TDP1, tyrosyl-DNA phosphodiesterase 1, 55775

N. diseases: 70; N. variants: 4
Disease: Neurodegenerative Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.050 GeneticVariation group BEFREE A His(nuc) to Ala mutant protein is reportedly inactive, whereas the autosomal recessive neurodegenerative disease SCAN1 has been attributed to the enhanced stability of the Tdp1-DNA intermediate induced by mutation of His(gab) to Arg. 25609251 2015
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.050 Biomarker group BEFREE Loss of tdp-1 suppressed defects in transgenic C. elegans expressing TDP-43 or CuZn superoxide dismutase, both of which are associated with proteotoxicity in neurodegenerative diseases. 22232551 2012
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.050 GeneticVariation group BEFREE The H493R mutation of Tdp1 causes the neurodegenerative disorder spinocerebellar ataxia with axonal neuropathy (SCAN1). 17948061 2007
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.050 Biomarker group BEFREE Here we review recent progress in our understanding of TDP1, single-strand break repair (SSBR), and neurodegenerative disease. 17045754 2007
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.050 GeneticVariation group BEFREE Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is a neurodegenerative disease that results from mutation of tyrosyl phosphodiesterase 1 (TDP1). 15744309 2005