The role of tau (MAPT) in frontotemporal dementia and related tauopathies.

PubWeight™: 2.52‹?› | Rank: Top 2%

🔗 View Article (PMID 15365985)

Published in Hum Mutat on October 01, 2004

Authors

R Rademakers1, M Cruts, C van Broeckhoven

Author Affiliations

1: Department of Molecular Genetics, Neurogenetics Group, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium.

Articles citing this

Global variation in copy number in the human genome. Nature (2006) 57.50

Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J Med Genet (2005) 2.56

Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol (2012) 2.48

CSF biomarkers in frontotemporal lobar degeneration with known pathology. Neurology (2008) 2.43

Progranulin in frontotemporal lobar degeneration and neuroinflammation. J Neuroinflammation (2007) 2.43

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol (2010) 2.30

Locus-specific mutation databases for neurodegenerative brain diseases. Hum Mutat (2012) 2.17

Frontotemporal lobar degeneration: epidemiology, pathophysiology, diagnosis and management. CNS Drugs (2010) 1.72

Loss of tau elicits axonal degeneration in a mouse model of Alzheimer's disease. Neuroscience (2010) 1.70

Gene expression study on peripheral blood identifies progranulin mutations. Ann Neurol (2008) 1.59

ALS and FTLD: two faces of TDP-43 proteinopathy. Eur J Neurol (2008) 1.49

Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN. Neurology (2009) 1.48

The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol (2012) 1.42

Targeting the low-hanging fruit of neurodegeneration. Neurology (2014) 1.41

Profiling alternatively spliced mRNA isoforms for prostate cancer classification. BMC Bioinformatics (2006) 1.39

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. Alzheimers Res Ther (2012) 1.26

Synthetic oligonucleotides recruit ILF2/3 to RNA transcripts to modulate splicing. Nat Chem Biol (2012) 1.22

Characteristics of frontotemporal dementia patients with a Progranulin mutation. Ann Neurol (2006) 1.22

The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments. Neurogenetics (2007) 1.20

Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. Neurology (2009) 1.16

Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genet (2012) 1.14

Tau isoform composition influences rate and extent of filament formation. J Biol Chem (2012) 1.11

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features. Neurobiol Aging (2012) 1.07

CNV and nervous system diseases--what's new? Cytogenet Genome Res (2009) 1.04

Role of the tau gene region chromosome inversion in progressive supranuclear palsy, corticobasal degeneration, and related disorders. Arch Neurol (2008) 1.01

Mouse models of frontotemporal dementia. Ann Neurol (2012) 1.01

Parkinsonian syndrome in familial frontotemporal dementia. Parkinsonism Relat Disord (2014) 0.96

Pathogenic missense MAPT mutations differentially modulate tau aggregation propensity at nucleation and extension steps. J Neurochem (2008) 0.96

Genetics of frontotemporal lobar degeneration. Front Neurol (2012) 0.92

MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology. Neurology (2010) 0.92

Genetics and biology of Alzheimer's disease and frontotemporal lobar degeneration. Int J Clin Exp Med (2010) 0.91

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series. Neurogenetics (2008) 0.90

Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia. Front Aging Neurosci (2015) 0.87

Amyloid beta precursor protein regulates male sexual behavior. J Neurosci (2010) 0.87

Clinic, neuropathology and molecular genetics of frontotemporal dementia: a mini-review. Transl Neurodegener (2013) 0.87

Frontotemporal dementia: An updated overview. Indian J Psychiatry (2009) 0.84

A novel tau mutation, p.K317N, causes globular glial tauopathy. Acta Neuropathol (2015) 0.84

Mechanisms of granulin deficiency: lessons from cellular and animal models. Mol Neurobiol (2012) 0.84

Frontotemporal lobar degeneration: current knowledge and future challenges. J Neurol (2012) 0.84

Frontotemporal dementia, manifested as schizophrenia, with decreased heterochromatin on chromosome 1. Case Rep Psychiatry (2012) 0.83

Genetics of frontotemporal lobar degeneration. Ann Indian Acad Neurol (2010) 0.83

Serotonin transporter and saitohin genes in risk of Alzheimer's disease and frontotemporal lobar dementia: preliminary findings. Neurol Sci (2010) 0.83

Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. Neurogenetics (2009) 0.81

Structural determinants of Tau aggregation inhibitor potency. J Biol Chem (2013) 0.79

Identification of Parkinson's disease candidate genes using CAESAR and screening of MAPT and SNCAIP in South African Parkinson's disease patients. J Neural Transm (Vienna) (2011) 0.79

Novel G335V mutation in the tau gene associated with early onset familial frontotemporal dementia. Neurogenetics (2005) 0.78

Slow vertical saccades in the frontotemporal dementia with motor neuron disease. J Neurol (2008) 0.78

Increased dendritic spine density and tau expression are associated with individual differences in steroidal regulation of male sexual behavior. PLoS One (2013) 0.77

Modulation and detection of tau aggregation with small-molecule ligands. Curr Alzheimer Res (2009) 0.77

The role of the innate immune system in Alzheimer's disease and frontotemporal lobar degeneration: an eye on microglia. Clin Dev Immunol (2013) 0.77

No evidence for association between tau gene haplotypic variants and susceptibility to Creutzfeldt-Jakob disease. BMC Med Genet (2007) 0.77

Magnetic resonance spectroscopy in common dementias. Neuroimaging Clin N Am (2013) 0.76

Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America. Neurobiol Aging (2017) 0.75

Young-onset frontotemporal dementia in a homozygous tau R406W mutation carrier. Ann Clin Transl Neurol (2015) 0.75

Genetic prediction of male pattern baldness. PLoS Genet (2017) 0.75

The role of CHMP2B(Intron5) in autophagy and frontotemporal dementia. Brain Res (2016) 0.75

Clinical phenotypes and genetic biomarkers of FTLD. J Neural Transm (Vienna) (2012) 0.75

Preappointment testing for BRAF/KIT mutation in advanced melanoma: a model in molecular data delivery for individualized medicine. Hum Pathol (2014) 0.75

Targeted Downregulation of dMyc Suppresses Pathogenesis of Human Neuronal Tauopathies in Drosophila by Limiting Heterochromatin Relaxation and Tau Hyperphosphorylation. Mol Neurobiol (2016) 0.75

Recent advances in the molecular genetics of frontotemporal lobar degeneration. Funct Neurol (2017) 0.75

Sex differences in the prevalence of genetic mutations in FTD and ALS: A meta-analysis. Neurology (2017) 0.75

Articles by these authors

Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet (1989) 3.81

Genetic association of apolipoprotein E with age-related macular degeneration. Am J Hum Genet (1998) 2.82

Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease. Nat Genet (1994) 2.65

Risk estimates of dementia by apolipoprotein E genotypes from a population-based incidence study: the Rotterdam Study. Arch Neurol (1998) 2.53

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nat Genet (1992) 2.40

Genetic contribution of FUS to frontotemporal lobar degeneration. Neurology (2010) 2.14

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet (1989) 2.11

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update. Hum Mutat (2008) 1.89

Octapeptide repeat insertions in the prion protein gene and early onset dementia. J Neurol Neurosurg Psychiatry (2004) 1.87

Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3. Nat Genet (1992) 1.62

Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites. Mol Psychiatry (2011) 1.59

APOE influences on neuropsychological function after mild head injury: within-person comparisons. Neurology (2004) 1.58

Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Neurology (2008) 1.56

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease. Neurology (2008) 1.55

Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval. Mol Psychiatry (2002) 1.46

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet (1992) 1.44

PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism? Nat Genet (1997) 1.39

Altered brain white matter integrity in healthy carriers of the APOE epsilon4 allele: a risk for AD? Neurology (2006) 1.38

[From gene to disease; presenilins and Alzheimer disease]. Ned Tijdschr Geneeskd (2001) 1.38

Progranulin locus deletion in frontotemporal dementia. Hum Mutat (2008) 1.31

De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet (1992) 1.30

Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe. Hum Mutat (2003) 1.20

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. Neurology (2009) 1.18

A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes. Genome Res (1999) 1.16

Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects. J Neurol Neurosurg Psychiatry (2003) 1.15

Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease. Hum Mol Genet (2000) 1.15

Identification of chromosome 21 DNA polymorphisms for genetic studies in Alzheimer's disease and Down syndrome. Hum Genet (1991) 1.14

Amyloid precursor protein gene mutation in early-onset Alzheimer's disease. Lancet (1991) 1.12

Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. Am J Hum Genet (1995) 1.11

Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment. Hum Mutat (2006) 1.10

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression. Hum Mol Genet (2000) 1.08

Genetic findings in Parkinson's disease and translation into treatment: a leading role for mitochondria? Genes Brain Behav (2007) 1.07

The effect of APOE on dementia is not through atherosclerosis: the Rotterdam Study. Neurology (1999) 1.05

Apolipoprotein E genotype and progression of Alzheimer's disease: the Rotterdam Study. J Neurol (1999) 1.05

The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease. Am J Hum Genet (1999) 1.05

APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease. Neurosci Lett (1994) 1.04

Course of objective memory impairment in non-demented subjects attending a memory clinic and predictors of outcome. Int J Geriatr Psychiatry (2000) 1.01

Serum apolipoprotein E level is not increased in Alzheimer's disease: the Rotterdam study. Neurosci Lett (1998) 1.01

Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia. Am J Med Genet (2001) 1.00

Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. Brain (2004) 1.00

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat (2000) 0.99

A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum Mol Genet (1997) 0.99

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease. Am J Hum Genet (1998) 0.98

Association of cyclin-dependent kinase 5 and neuronal activators p35 and p39 complex in early-onset Alzheimer's disease. Neurobiol Aging (2004) 0.96

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation. Brain (2001) 0.96

The microtubule associated protein Tau gene and Alzheimer's disease--an association study and meta-analysis. Neurosci Lett (2001) 0.95

DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type) Am J Hum Genet (1991) 0.95

A population-based study of familial Alzheimer disease: linkage to chromosomes 14, 19, and 21. Am J Hum Genet (1994) 0.94

Apolipoprotein E gene and sporadic frontal lobe dementia. Neurology (1997) 0.93

Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692). Brain (2000) 0.93

Increased risk of dementia following mild head injury for carriers but not for non-carriers of the APOE epsilon4 allele. Int Psychogeriatr (2006) 0.92

Identification of caspases that cleave presenilin-1 and presenilin-2. Five presenilin-1 (PS1) mutations do not alter the sensitivity of PS1 to caspases. FEBS Lett (1999) 0.91

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. Hum Mol Genet (1999) 0.90

Degeneration of ingestion-related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7. Neuropathol Appl Neurobiol (2006) 0.89

Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotype. Neurosci Lett (2001) 0.89

Mutation screening of the tau gene in patients with early-onset Alzheimer's disease. Neurosci Lett (1999) 0.88

The impact of APOE on myocardial infarction, stroke, and dementia: the Rotterdam Study. Neurology (2004) 0.87

A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3. Hum Mol Genet (1995) 0.87

Apolipoprotein E and carotid artery atherosclerosis: the Rotterdam study. Stroke (2001) 0.86

Evidence that Abeta42 plasma levels in presenilin-1 mutation carriers do not allow for prediction of their clinical phenotype. Neurobiol Dis (1999) 0.86

242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread. Genomics (1991) 0.86

Genetic association of the presenilin-1 regulatory region with early-onset Alzheimer's disease in a population-based sample. Eur J Hum Genet (2000) 0.86

Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion. J Neurol (2000) 0.85

Apolipoprotein E and longevity: the Rotterdam Study. J Am Geriatr Soc (2001) 0.83

Evidence for major gene inheritance of Alzheimer disease in families of patients with and without apolipoprotein E epsilon 4. Am J Hum Genet (1996) 0.83

Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. Hum Mol Genet (2001) 0.83

Unique sequence homology in the pericentromeric regions of the long arms of chromosomes 13 and 21. Genomics (1992) 0.82

Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation. Brain (2000) 0.82

The alpha2-macroglobulin gene in AD: a population-based study and meta-analysis. Neurology (2000) 0.82

Fatigue before and after mild traumatic brain injury: pre-post-injury comparisons in relation to Apolipoprotein E. Brain Inj (2007) 0.81

Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr. Hum Mutat (1998) 0.81

Apolipoprotein E4 in the temporal variant of frontotemporal dementia. J Neurol Neurosurg Psychiatry (2002) 0.81

The -491 A/T polymorphism in the regulatory region of the apolipoprotein E gene and early-onset Alzheimer's disease. Neurosci Lett (1998) 0.81

Effect of the APOE-491A/T promoter polymorphism on apolipoprotein E levels and risk of Alzheimer disease: The Rotterdam Study. Am J Med Genet (2002) 0.81

APOE epsilon4 and Alzheimer's disease: positive association in a Colombian clinical series and review of the Latin-American studies. Arq Neuropsiquiatr (2001) 0.79

Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population. Neurology (2004) 0.79

Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's disease. J Neurol (2001) 0.79

The TNFRSF6 gene is not implicated in familial early-onset Alzheimer's disease. Hum Genet (2001) 0.79

Evidence for allelic heterogeneity in familial early-onset Alzheimer's disease. Br J Psychiatry (1991) 0.78

The cystatin C polymorphism is not associated with early onset Alzheimer's disease. Neurology (2001) 0.78

Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody. Brain Res Mol Brain Res (1999) 0.78

Genetic testing should not be advocated as a diagnostic tool in familial forms of dementia. Am J Hum Genet (2000) 0.77

Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2. J Med Genet (1994) 0.77

Genetic analysis of the cellular oncogene fos in patients with chromosome 14 encoded Alzheimer's disease. Neurosci Lett (1994) 0.77

Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA. J Med Genet (2000) 0.76

Determination of the genomic organization of human presenilin 1 by fiber-FISH analysis and restriction mapping of cloned DNA. Mamm Genome (1999) 0.75

Subregional localization of the chromosome 21 loci D21S24 and D21S26 using physical mapping techniques. Hum Genet (1991) 0.75

[Hereditary neural amyotrophy (HNA): clinical and molecular genetic basis]. Fortschr Neurol Psychiatr (1998) 0.75

A rare MspI RFLP of the DMD probe p20 (DXS269). Hum Genet (1992) 0.75

Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family. Neurogenetics (2003) 0.75

Dinucleotide repeat polymorphism at the D21S258 locus. Hum Mol Genet (1992) 0.75