MAPT, microtubule associated protein tau, 4137

N. diseases: 469; N. variants: 292
Disease: Parkinsonian Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE The second part will deal with the recent discovery of tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 which demonstrates that tau dysfunction can lead to neurodegeneration. 12938731 2003
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group LHGDN Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family. 12796837 2003
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 Biomarker group BEFREE Computational Investigation of RNA A-Bulges Related to the Microtubule-Associated Protein Tau Causing Frontotemporal Dementia and Parkinsonism. 30517788 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17). 27905268 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene. 11456301 2001
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 Biomarker group BEFREE Microtubule-associated protein tau (MAPT) has been associated with several neurodegenerative disorders including forms of parkinsonism and Parkinson disease (PD). 18509094 2008
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE In addition, autosomal-dominant dementia and Parkinsonism has been shown to be caused by mutations in the MAPT and PGRN genes. 20187245 2010
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17. 12492138 2002
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17. 21681797 2011
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group LHGDN The tau S305S mutation causes frontotemporal dementia with parkinsonism. 18093153 2008
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Recently, mutations in the tau gene on chromosome 17 were found causative for autosomal dominantly inherited frontotemporal dementia and parkinsonism (FTDP-17). 10553987 1999
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 Biomarker group CTD_human Familial aggregation of parkinsonism in progressive supranuclear palsy. 19458322 2009
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish family. 12796837 2003
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE The identification of mutations in MAPT, the gene that encodes tau, causing dementia and parkinsonism established the notion that tau aggregation is responsible for the development of disease. 28789904 2018
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Mutations in the gene encoding the microtubule-associated protein tau (MAPT) cause frontotemporal dementia and parkinsonism linked to chromosome 17. 16240366 2005
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 Biomarker group BEFREE The assembly of tau protein into abnormal filaments and brain cell degeneration are characteristic of a number of human neurodegenerative diseases, including Alzheimer's disease and frontotemporal dementia and parkinsonism linked to chromosome 17. 30905766 2019
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE The role of tau in neurodegeneration has been clarified by the identification of genetic mutations in the tau gene in cases with familial frontotemporal dementia and parkinsonism linked to chromosome 17. 14528051 2003
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Frontotemporal dementia and parkinsonism linked to chromosome 17 have been associated with mutations in the microtubule associated protein tau (MAPT or tau) gene. 16014652 2005
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 AlteredExpression group LHGDN CSF neurofilament light chain and tau differentiate multiple system atrophy from Parkinson's disease. 16678934 2007
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE We have previously generated a double transgenic mouse line overexpressing the enzyme GSK-3beta and tau protein carrying a triple frontotemporal dementia and parkinsonism linked to chromosome 17 mutation whose expression patterns overlap in CA1 (pyramidal neurons) and dentate gyrus (granular neurons). 18951953 2008
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648 2016
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon? 23121543 2014
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Carbazole and 2-arylquinoline binding was only observed in cases with Alzheimer's disease and one case with frontotemporal dementia and parkinsonism linked to chromosome 17 exhibiting a R406W MAPT mutation. 29716656 2018
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 Biomarker group BEFREE The MAPT gene, located on 17q21 and coding for the human microtubule-associated protein tau, is a strong candidate gene, since tau-positive neuronal inclusions have been observed in brains from some FTDP patients. 9736786 1998
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 GeneticVariation group BEFREE Tau aggregation and seeding analyses of two novel MAPT variants found in patients with motor neuron disease and progressive parkinsonism. 31027853 2019