Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.P301L
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PSAP

NM_002778.4:p.P301L

Associated Papers

Human iPSC 4R tauopathy model uncovers modifiers of tau propagation.

Parra Bravo C et al.

Cell, 2024

The Enigma of Tau Protein Aggregation: Mechanistic Insights and Future Challenges.

Zheng H et al.

International Journal of Molecular Sciences, 2024

Deletion of Slc9a1 in Cx3cr1+ cells stimulated microglial subcluster CREB1 signaling and microglia-oligodendrocyte crosstalk.

Song S et al.

Journal of Neuroinflammation, 2024

Targeted brain-specific tauopathy compromises peripheral skeletal muscle integrity and function.

Alava B et al.

Biorxiv : the Preprint Server for Biology, 2023

Prominent tauopathy and intracellular β-amyloid accumulation triggered by genetic deletion of cathepsin D: Implications for Alzheimer disease pathogenesis.

Terron HM et al.

Research Square, 2023

Monoclonal antibody Y01 prevents tauopathy progression induced by lysine 280-acetylated tau in cell and mouse models.

Song HL et al.

The Journal of Clinical Investigation, 2023

The Sulfation Code of Tauopathies: Heparan Sulfate Proteoglycans in the Prion Like Spread of Tau Pathology.

Mah D et al.

Frontiers in Molecular Biosciences, 2021

Characterization of lysosomal proteins Progranulin and Prosaposin and their interactions in Alzheimer's disease and aged brains: increased levels correlate with neuropathology.

Mendsaikhan A et al.

Acta Neuropathologica Communications, 2019

Structural characterization of monoclonal antibodies targeting C-terminal Ser404 region of phosphorylated tau protein.

Chukwu JE et al.

Mabs, 2019

Synaptic Localisation of Tau.

Hanger DP et al.

Advances in Experimental Medicine and Biology, 2019

Tau Antibody Structure Reveals a Molecular Switch Defining a Pathological Conformation of the Tau Protein.

Chukwu JE et al.

Scientific Reports, 2018

Tau's Three-Repeat Domain and EFhd2 Co-incubation Leads to Increased Thioflavin Signal.

Vega IE et al.

Frontiers in Neuroscience, 2018

Frontotemporal dementia with the V337M MAPT mutation: Tau-PET and pathology correlations.

Spina S et al.

Neurology, 2017

In Vivo Tau Imaging for a Diagnostic Platform of Tauopathy Using the rTg4510 Mouse Line.

Sahara N et al.

Frontiers in Neurology, 2017

Multiple signaling factors and drugs alleviate neuronal death induced by expression of human and zebrafish tau proteins in vivo.

Wu BK et al.

Journal of Biomedical Science, 2016

Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations.

Iovino M et al.

Brain : a Journal of Neurology, 2015

αB-crystallin and HSP27 in glial cells in tauopathies.

López-González I et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2014

Tau deletion impairs intracellular β-amyloid-42 clearance and leads to more extracellular plaque deposition in gene transfer models.

Lonskaya I et al.

Molecular Neurodegeneration, 2014

Tau pathology induces intraneuronal cholesterol accumulation.

Glöckner F et al.

Journal of Neuropathology and Experimental Neurology, 2014

Passive immunization targeting pathological phospho-tau protein in a mouse model reduces functional decline and clears tau aggregates from the brain.

Boutajangout A et al.

Journal of Neurochemistry, 2011

Modulation of neurosteroid production in human neuroblastoma cells by Alzheimer's disease key proteins.

Schaeffer V et al.

Journal of Neurobiology, 2006

Axonal degeneration induced by targeted expression of mutant human tau in oligodendrocytes of transgenic mice that model glial tauopathies.

Higuchi M et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005

Inability of tau to properly regulate neuronal microtubule dynamics: a loss-of-function mechanism by which tau might mediate neuronal cell death.

Feinstein SC et al.

Biochimica Et Biophysica Acta, 2005

Promotion of hyperphosphorylation by frontotemporal dementia tau mutations.

Alonso Adel C et al.

The Journal of Biological Chemistry, 2004

Chronic lithium treatment decreases mutant tau protein aggregation in a transgenic mouse model.

Pérez M et al.

Journal of Alzheimer's Disease : Jad, 2003

Frontotemporal dementia and tauopathy.

Yoshiyama Y et al.

Current Neurology and Neuroscience Reports, 2001

Oligodendroglial tau filament formation in transgenic mice expressing G272V tau.

Götz J et al.

The European Journal of Neuroscience, 2001

Distinct FTDP-17 missense mutations in tau produce tau aggregates and other pathological phenotypes in transfected CHO cells.

Vogelsberg-Ragaglia V et al.

Molecular Biology of the Cell, 2000

Reduced binding of protein phosphatase 2A to tau protein with frontotemporal dementia and parkinsonism linked to chromosome 17 mutations.

Goedert M et al.

Journal of Neurochemistry, 2000

Age-dependent emergence and progression of a tauopathy in transgenic mice overexpressing the shortest human tau isoform.

Ishihara T et al.

Neuron, 1999

Filamentous nerve cell inclusions in neurodegenerative diseases: tauopathies and alpha-synucleinopathies.

Goedert M

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 1999

Altered Expression of the m6A Methyltransferase METTL3 in Alzheimer's Disease.

Huang H et al.

Eneuro, 0

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