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Tau and MAPT genetics in tauopathies and synucleinopathies
Parkinsonism and Related Disorders, 2021MAPT encodes the microtubule-associated protein tau, which is the main component of neurofibrillary tangles (NFTs) and found in other protein aggregates. These aggregates are among the pathological hallmarks of primary tauopathies such as frontotemporal dementia (FTD).
Etienne Leveille +2 more
exaly +3 more sources
MAPT haplotype diversity in multiple system atrophy [PDF]
Parkinsonism and Related Disorders, 2016 Multiple system atrophy (MSA) is a rare progressive neurodegenerative disorder. MSA was originally considered exclusively sporadic but reports of association with genes such as SNCA, COQ2 and LRRK2 have demonstrated that there is a genetic contribution to the disease.
Zbigniew K Wszolek +2 more
exaly +3 more sources
Development of Novel Chemically-Modified Nucleic Acid Molecules for Efficient Inhibition of Human MAPT Gene Expression [PDF]
Genes, 2020 The hyperphosphorylation of the microtubule-associated protein tau (MAPT) has been implicated in various neurological diseases, including Alzheimer’s disease.
Suxiang Chen +2 more
exaly +2 more sources
Clinical subtypes in Parkinson’s disease: the impact of MAPT haplotypes
Journal of Neural Transmission, 2013The H1 haplotype of the MAPT gene influences the risk of PD and has been related to the development of PDD. We evaluated the influence of MAPT haplotypes on the expression of motor features in PD patients. We genotyped, for the MAPT haplotypes H1 and H2, a sample of 181 PD patients with distinct clinical subtypes: tremor dominant and non-tremor ...
Esterina Pascale +2 more
exaly +3 more sources