Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.R5L
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MAPT

NM_001377265.1:p.R5L

Associated Papers

Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.

Podleśny-Drabiniok A et al.

Cell Reports, 2025

40570367 (PubMed )
Supplement: NIHMS2099510-supplement-6.xlsx › VSQR_THP-1

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

FTLD-MAPT mutations and short 5'UTR Tau mRNAs increase Tau translation.

da Costa PJ et al.

Nar Molecular Medicine, 2024

Fully Human Bifunctional Intrabodies Achieve Graded Reduction of Intracellular Tau and Rescue Survival of MAPT Mutation iPSC-derived Neurons.

D'Brant L et al.

Biorxiv : the Preprint Server for Biology, 2024

Novel Insights into the Genetic Basis of Progressive Supranuclear Palsy in Asian-Indian Population.

Dey S et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Plasma Neurofilaments: Potential Biomarkers of SPG11-Related Hereditary Spastic Paraplegia.

Krumm L et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Overlaps and divergences between tauopathies and synucleinopathies: a duet of neurodegeneration.

Li W et al.

Translational Neurodegeneration, 2024

Tau and neurodegeneration.

Goedert M et al.

Cytoskeleton (hoboken, N.j.), 2024

A novel MAPT variant (E342K) as a cause of familial progressive supranuclear palsy.

Li H et al.

Frontiers in Neurology, 2024

Aging, NRF2, and TAU: A Perfect Match for Neurodegeneration?

Brackhan M et al.

Antioxidants (basel, Switzerland), 2023

Tau, microtubule dynamics, and axonal transport: New paradigms for neurodegenerative disease.

Cario A et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2023

Phosphomimetics at Ser199/Ser202/Thr205 in Tau Impairs Axonal Transport in Rat Hippocampal Neurons.

Christensen KR et al.

Molecular Neurobiology, 2023

Genetic Architecture of Primary Tauopathies.

Gallo D et al.

Neuroscience, 2023

Differential Regulation of Tau Exon 2 and 10 Isoforms in Huntington's Disease Brain.

Petry S et al.

Neuroscience, 2023

FTD-tau S320F mutation stabilizes local structure and allosterically promotes amyloid motif-dependent aggregation.

Chen D et al.

Nature Communications, 2023

Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.

Bougea A

International Journal of Molecular Sciences, 2023

Heparan Sulfate Proteoglycans in Tauopathy.

Zhu Y et al.

Biomolecules, 2022

The N-terminal disease-associated R5L Tau mutation increases microtubule shrinkage rate due to disruption of microtubule-bound Tau patches.

Cario A et al.

The Journal of Biological Chemistry, 2022

Genetic and Epigenetic Constructs of Progressive Supranuclear Palsy.

Debnath M et al.

Annals of Neurosciences, 2022

The pathogenic R5L mutation disrupts formation of Tau complexes on the microtubule by altering local N-terminal structure.

Cario A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Tau mRNA Metabolism in Neurodegenerative Diseases: A Tangle Journey.

da Costa PJ et al.

Biomedicines, 2022

Genotype-Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities.

Ruiz-Barrio I et al.

Frontiers in Neurology, 2022

Frontotemporal Lobar Dementia Mutant Tau Impairs Axonal Transport through a Protein Phosphatase 1γ-Dependent Mechanism.

Combs B et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021

Genetics of Progressive Supranuclear Palsy: A Review.

Wen Y et al.

Journal of Parkinson's Disease, 2021

Tau Protein and Frontotemporal Dementias.

Goedert M et al.

Advances in Experimental Medicine and Biology, 2021

The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients.

Liu L et al.

Frontiers in Aging Neuroscience, 2021

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6

Alzheimer's disease: phenotypic approaches using disease models and the targeting of tau protein.

Lauretti E et al.

Expert Opinion on Therapeutic Targets, 2020

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Moore KM et al.

The Lancet. Neurology, 2020

31810826 (PubMed )
Supplement: NIHMS1067362-supplement-Supplement.pdf

Genetic and polygenic risk score analysis for Alzheimer's disease in the Chinese population.

Zhou X et al.

Alzheimer's & Dementia (amsterdam, Netherlands), 2020

Much More Than a Cytoskeletal Protein: Physiological and Pathological Functions of the Non-microtubule Binding Region of Tau.

Brandt R et al.

Frontiers in Neurology, 2020

Impaired tau-microtubule interactions are prevalent among pathogenic tau variants arising from missense mutations.

Xia Y et al.

The Journal of Biological Chemistry, 2019

MAPT mutations, tauopathy, and mechanisms of neurodegeneration.

Strang KH et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2019

Genetic analysis of neurodegenerative diseases in a pathology cohort.

Blauwendraat C et al.

Neurobiology of Aging, 2019

FTDP-17 Mutations Alter the Aggregation and Microtubule Stabilization Propensity of Tau in an Isoform-Specific Fashion.

Mutreja Y et al.

Biochemistry, 2019

Role of Tau as a Microtubule-Associated Protein: Structural and Functional Aspects.

Barbier P et al.

Frontiers in Aging Neuroscience, 2019

Annexins A2 and A6 interact with the extreme N terminus of tau and thereby contribute to tau's axonal localization.

Gauthier-Kemper A et al.

The Journal of Biological Chemistry, 2018

Prion-like Spreading in Tauopathies.

Ayers JI et al.

Biological Psychiatry, 2018

Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies.

Forrest SL et al.

Brain : a Journal of Neurology, 2018

A Conserved Cytoskeletal Signaling Cascade Mediates Neurotoxicity of FTDP-17 Tau Mutations In Vivo.

Bardai FH et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018

Tau Filaments and the Development of Positron Emission Tomography Tracers.

Goedert M et al.

Frontiers in Neurology, 2018

Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review.

Lin HC et al.

Bmc Neurology, 2017

Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?

De Vos KJ et al.

Neurobiology of Disease, 2017

Cryo-EM structures of tau filaments from Alzheimer's disease.

Fitzpatrick AWP et al.

Nature, 2017

Genetics of Frontotemporal Dementia.

Olszewska DA et al.

Current Neurology and Neuroscience Reports, 2016

Quantitative and combinatory determination of in situ phosphorylation of tau and its FTDP-17 mutants.

Kimura T et al.

Scientific Reports, 2016

Tau mis-splicing in the pathogenesis of neurodegenerative disorders.

Park SA et al.

Bmb Reports, 2016

Age-dependent neuroinflammation and cognitive decline in a novel Ala152Thr-Tau transgenic mouse model of PSP and AD.

Sydow A et al.

Acta Neuropathologica Communications, 2016

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients.

Guven G et al.

Plos One, 2016

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