Genetic evidence for the involvement of τ in progressive supranuclear palsy

Conrad, Chris; Andreadis, Athena; Trojanowski, John Q.; Dickson, Dennis W.; Kang, David E.; Chen, Xiaohua; Wiederholt, W. C.; Hansen, Laura; Masliah, Eliezer; Thal, Leon J.; Katzman, Robert; Xia, Yu; Saitoh, Tsunao

doi:10.1002/ana.410410222

Cited by 380 publications

(238 citation statements)

References 21 publications

Supporting

Mentioning

224

Contrasting

Unclassified

Order By: Relevance

“…Mutations have been found in MAPT in the familial form of FTDP-17 (26). Similarly, a common polymorphism has been reported in MAPT to be strongly associated with progressive supranuclear palsy, corticobasal degeneration, and AD (27)(28)(29)(30).…”

mentioning

confidence: 73%

Parkinsonian Neurotoxin 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and α-Synuclein Mutations Promote Tau Protein Phosphorylation at Ser262 and Destabilize Microtubule Cytoskeleton in Vitro

Qureshi¹,

Paudel

2011

Journal of Biological Chemistry

View full text Add to dashboard Cite

show abstract

mentioning

confidence: 73%

Parkinsonian Neurotoxin 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and α-Synuclein Mutations Promote Tau Protein Phosphorylation at Ser262 and Destabilize Microtubule Cytoskeleton in Vitro

Qureshi¹,

Paudel

2011

Journal of Biological Chemistry

View full text Add to dashboard Cite

show abstract

“…Thus, El0+ tau isoforms are likely to aggregate in subsets of neurons that are degenerating in PSP/CBD. It should also be noted that particular tau gene polymorphisms in PSP may modify alternative splicing and lead to an increase in El0+ tau isoforms formation [26]. Similarly, in FTDP-17, point mutations in introns close to exon 10 may also increase levels of El0+ tau isoforms further leading to their aggregation [27,28].…”

Section: Discussionmentioning

confidence: 99%

Phosphorylation of specific sets of tau isoforms reflects different neurofibrillary degeneration processes

et al. 1998

View full text Add to dashboard Cite

Tau proteins are the basic components of filaments that accumulate within neurons during neurofibrillary degeneration, a degenerating process with disease-specific phenotypes. This specificity is likely to be sustained by both phosphorylation state and isoform content of tau aggregates that form neuronal inclusions. In the present study, characterization of tau isoforms involved in neurofibrillary degeneration in Alzbeimer's disease, Pick's disease, corticobasal degeneration and progressive supranuclear palsy was performed. Both analyses by immunoblotting using specific tau antibodies and cell transfection by tau isoform cDNAs allowed us to demonstrate the aggregation of (1) the six hyperpbosphorylated tau isoforms in Alzheimer's disease, (2) tau isoforms without exon 10-encoding sequence in Pick's disease and (3) hyperphosphorylated exon 10-tau isoforms in corticobasal degeneration and progressive supranuclear palsy. Thus, neurofibrillary degeneration phenotypes are likely to be related to the phosphorylation of different combinations of tau isoforms (with and/or without exon 10-encoding sequence) in subpopulations of neurons.

show abstract

“…There are few families with multiple cases of PSP and genetic factors were considered to be less important in its aetiology. Interestingly, a multiply confirmed association has been described in the over-representation of one allele of the tau intronic polymorphism in PSP patients (Conrad et al 1997 ;Baker et al 1999). Pathogenic mutations within the tau gene have been described in FTDP-17 (Hutton et al 1998), and are reviewed elsewhere .…”

Section: Alpha-synuclein Tau and Parkinsonismmentioning

confidence: 98%

Genetics of Parkinsonism: a review

VAUGHAN¹,

DAVIS²,

WOOD³

2001

Annals of Human Genetics

View full text Add to dashboard Cite

Idiopathic Parkinson's disease (IPD), a progressive neurodegenerative disorder, is a common cause of disability. No current therapies modify disease progression. The pathological hallmarks are the presence of Lewy bodies and massive loss of dopaminergic neurons in the pars compacta of the substantia nigra. Two genes (SNCA and parkin) as well as two gene loci have now been implicated in the pathogenesis of familial PD. These represent significant progress in our understanding of the disease, considering the rarity of large families, low heritability in the general population and genetic heterogeneity. Mutations in a further gene, UCHL1, have been described in familial PD although the evidence for its role in PD is less clear. Knowledge of the genes described in PD to date should help to define molecular mechanisms of neurodegeneration in PD, as well as in other diseases where defects in protein handling may be a common feature. Nigral degeneration with Lewy body formation and the resulting clinical picture of PD may represent a final common pathway of a multifactorial disease process in which both environmental and genetic factors have a role. This review discusses the major advances in the field to date and illustrates how the existence of genetic factors has now become firmly established.

show abstract

Genetic evidence for the involvement of τ in progressive supranuclear palsy

Cited by 380 publications

References 21 publications

Parkinsonian Neurotoxin 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and α-Synuclein Mutations Promote Tau Protein Phosphorylation at Ser262 and Destabilize Microtubule Cytoskeleton in Vitro

Parkinsonian Neurotoxin 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and α-Synuclein Mutations Promote Tau Protein Phosphorylation at Ser262 and Destabilize Microtubule Cytoskeleton in Vitro

Phosphorylation of specific sets of tau isoforms reflects different neurofibrillary degeneration processes

Genetics of Parkinsonism: a review

Contact Info

Product

Resources

About