Research graph
References from Decoding MAPT Exon 10 Mis-Splicing in FTDP-17: From Pathogenic Mechanisms and Experimental Models to Molecular Therapies. Local targets link to admitted publications; unresolved targets remain external evidence.
Multiple isoforms of human microtubule-associated protein tau: Sequences and localization in neurofibrillary tangles of Alzheimer’s disease
10.1016/0896-6273(89)90210-9 · 1989 · External reference
A century of Alzheimer’s disease and tau pathology
10.1126/science.1132814 · 2006 · External reference
Association of missense and 5’-splice-site mutations in tau with the inherited dementia FTDP-17
10.1038/31508 · 1998 · External reference
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
10.1073/pnas.95.13.7737 · 1998 · External reference
Comparative biochemistry of tau in progressive supranuclear palsy, corticobasal degeneration, FTDP-17 and Pick’s disease
10.1111/j.1750-3639.1999.tb00550.x · 1999 · External reference
Distinct isoforms of tau aggregated in neurons and glial cells in brains of patients with Pick’s disease, corticobasal degeneration and progressive supranuclear palsy
10.1007/s004010000283 · 2001 · External reference
Dysregulated coordination of MAPT exon 2 and exon 10 splicing underlies different tau pathologies in PSP and AD
10.1007/s00401-021-02392-2 · 2022 · External reference
Identification of cDNA clones for the human microtubule-associated protein tau and chromosomal localization of the genes for tau and microtubule-associated protein 2
1986 · External reference
Cellular and pathological functions of tau
10.1038/s41580-024-00753-9 · 2024 · External reference
Structure and novel exons of the human tau gene
10.1021/bi00158a027 · 1992 · External reference
Tau gene alternative splicing: Expression patterns, regulation and modulation of function in development and disease
10.1016/j.bbadis.2004.08.010 · 2005 · External reference
Tau protein isoforms, phosphorylation and role in neurodegenerative disorders
10.1016/s0165-0173(00)00019-9 · 2000 · External reference
Tau in physiology and pathology
10.1038/nrn.2015.1 · 2016 · External reference
Tau exon 10 alternative splicing and tauopathies
10.1186/1750-1326-3-8 · 2008 · External reference
Structural and functional differences between 3-repeat and 4-repeat tau isoforms
10.1074/jbc.m007489200 · 2000 · External reference
Developmentally regulated expression of specific tau sequences
10.1016/0896-6273(89)90077-9 · 1989 · External reference
A new non-aggregative splicing isoform of human Tau is decreased in Alzheimer’s disease
10.1007/s00401-021-02317-z · 2021 · External reference
Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion
2000 · External reference
5’ splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10
10.1074/jbc.274.21.15134 · 1999 · External reference
Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene
10.1093/brain/awf069 · 2002 · External reference
Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta
10.1074/jbc.m301800200 · 2003 · External reference
The alternative splicing of tau exon 10 and its regulatory proteins CLK2 and TRA2-BETA1 changes in sporadic Alzheimer’s disease
10.1111/j.1471-4159.2005.03552.x · 2006 · External reference
Alternative splicing in Alzheimer’s disease: Driver, modifier, or consequence of neurodegeneration
10.1016/j.mad.2026.112211 · 2026 · External reference
Lineage-specific splicing regulation of MAPT gene in the primate brain
10.1016/j.xgen.2024.100563 · 2024 · External reference
Hyperphosphorylation and aggregation of tau in mice expressing normal human tau isoforms (htau mice)
10.1046/j.1471-4159.2003.01879.x · 2003 · External reference
Human organotypic brain slice cultures: A detailed and improved protocol for preparation and long-term maintenance
10.1016/j.jneumeth.2023.110055 · 2024 · External reference
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10.26508/lsa.202403160 · 2025 · External reference
A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G\>T at the intron 9/exon 10 of the MAPT gene
10.1016/j.neurobiolaging.2021.05.010 · 2021 · External reference
Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17
10.1128/mcb.20.11.4036-4048.2000 · 2000 · External reference
FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10
10.1016/s0014-5793(98)01696-2 · 1999 · External reference
Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements
10.1073/pnas.96.10.5598 · 1999 · External reference
Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells
10.1007/s004010000333 · 2001 · External reference
Genetically engineered iPSC-derived FTDP-17 MAPT neurons display mutation-specific neurodegenerative and neurodevelopmental phenotypes
10.1016/j.stemcr.2018.06.022 · 2018 · External reference
Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17
10.1126/science.282.5395.1914 · 1998 · External reference
Clinical and genetic studies of families with the tau N279K mutation (FTDP-17)
10.1212/01.wnl.0000038909.49164.4b · 2002 · External reference
Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: A comparison of the pallidopontonigral degeneration kindred and a French family
10.1001/archneur.59.6.943 · 2002 · External reference
RNA stimulates aggregation of microtubule-associated protein tau into Alzheimer-like paired helical filaments
10.1016/s0014-5793(96)01386-5 · 1996 · External reference
Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors
10.1046/j.1471-4159.2003.02232.x · 2004 · External reference
10.3390/ijms232315383
10.3390/ijms232315383 · External reference
Use of minigene systems to dissect alternative splicing elements
10.1016/j.ymeth.2005.07.015 · 2005 · External reference
The in vivo minigene approach to analyze tissue-specific splicing
10.1016/s1385-299x(99)00043-4 · 1999 · External reference
Minigenes to confirm exon skipping mutations
10.1007/978-1-61779-767-5_3 · 2012 · External reference
A minimal length between tau exon 10 and 11 is required for correct splicing of exon 10
10.1111/j.1471-4159.2004.02477.x · 2004 · External reference
MAPT splicing modulators reduce 4R tau and rescue tauopathy phenotypes in human neurons and in a mouse model
10.1126/scitranslmed.ady6759 · 2026 · External reference
A high-throughput screening strategy identifies cardiotonic steroids as alternative splicing modulators
10.1073/pnas.0801661105 · 2008 · External reference
10.20944/preprints202306.1818.v1
10.20944/preprints202306.1818.v1 · External reference
The SH-SY5Y cell line in Parkinson’s disease research: A systematic review
10.1186/s13024-017-0149-0 · 2017 · External reference
Differentiation of the SH-SY5Y human neuroblastoma cell line
2016 · External reference
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10.3233/jad-2010-091363 · 2010 · External reference
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10.1038/s41598-021-03442-1 · 2021 · External reference
Establishment of a noradrenergic clonal line of rat adrenal pheochromocytoma cells which respond to nerve growth factor
10.1073/pnas.73.7.2424 · 1976 · External reference
Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17
10.1074/jbc.m105113200 · 2001 · External reference
Pro-apoptotic effects of tau mutations in chromosome 17 frontotemporal dementia and parkinsonism
10.1097/00001756-200001170-00011 · 2000 · External reference
Differentiated NSC-34 motoneuron-like cells as experimental model for cholinergic neurodegeneration
10.1016/j.neuint.2013.03.008 · 2013 · External reference
Altered tau isoform ratio caused by loss of FUS and SFPQ function leads to FTLD-like phenotypes
10.1016/j.celrep.2017.01.013 · 2017 · External reference
10.1186/1471-2202-8-36
10.1186/1471-2202-8-36 · External reference
10.1101/2024.06.02.597022
10.1101/2024.06.02.597022 · External reference
Induction of pluripotent stem cells from adult human fibroblasts by defined factors
10.1016/j.cell.2007.11.019 · 2007 · External reference
Expression of embryonic tau protein isoforms persist during adult neurogenesis in the hippocampus
10.1002/hipo.20255 · 2007 · External reference
10.3389/fnagi.2020.00011
10.3389/fnagi.2020.00011 · External reference
Early maturation and distinct tau pathology in induced pluripotent stem cell-derived neurons from patients with MAPT mutations
10.1093/brain/awv222 · 2015 · External reference
Calcium dysregulation contributes to neurodegeneration in FTLD patient iPSC-derived neurons
10.1038/srep34904 · 2016 · External reference
Genetically engineered MAPT 10+16 mutation causes pathophysiological excitability of human iPSC-derived neurons related to 4R tau-induced dementia
10.1038/s41419-021-04007-w · 2021 · External reference
Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells
10.1186/s13024-015-0042-7 · 2015 · External reference
10.3389/fncel.2018.00202
10.3389/fncel.2018.00202 · External reference
Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10+16 splice-site mutation in MAPT
10.1093/hmg/ddv246 · 2015 · External reference
Distinct neurodegenerative changes in an induced pluripotent stem cell model of frontotemporal dementia linked to mutant TAU protein
10.1016/j.stemcr.2015.06.001 · 2015 · External reference
ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids
10.1016/j.cell.2021.07.003 · 2021 · External reference
Cerebral organoids model human brain development and microcephaly
10.1038/nature12517 · 2013 · External reference
Cell diversity and network dynamics in photosensitive human brain organoids
10.1038/nature22047 · 2017 · External reference
Detection of all adult Tau isoforms in a 3D culture model of iPSC-derived neurons
10.1016/j.scr.2019.101541 · 2019 · External reference
Bezafibrate treatment rescues neurodevelopmental and neurodegenerative defects in 3D cortical organoid model of MAPT frontotemporal dementia
10.1002/alz.70419 · 2025 · External reference
10.3389/fnins.2022.838594
10.3389/fnins.2022.838594 · External reference
Human ALS/FTD brain organoid slice cultures display distinct early astrocyte and targetable neuronal pathology
10.1038/s41593-021-00923-4 · 2021 · External reference
Human post-mortem organotypic brain slice cultures: A tool to study pathomechanisms and test therapies
10.1186/s40478-024-01784-1 · 2024 · External reference
Tau reduction prevents neuronal loss and reverses pathological tau deposition and seeding in mice with tauopathy
10.1126/scitranslmed.aag0481 · 2017 · External reference
Neurodegenerative disorder FTDP-17-related tau intron 10 +16C\>T mutation increases tau exon 10 splicing and causes tauopathy in transgenic mice
10.1016/j.ajpath.2013.03.015 · 2013 · External reference
Neurofibrillary tangles, amyotrophy, and progressive motor disturbance in mice expressing a mutant (P301L) tau protein
10.1038/78078 · 2000 · External reference
Tau suppression in a neurodegenerative mouse model improves memory function
10.1126/science.1113694 · 2005 · External reference
Antisense reduction of tau in adult mice protects against seizures
10.1523/jneurosci.2107-13.2013 · 2013 · External reference
The tau N279K exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model
10.1523/jneurosci.5492-06.2007 · 2007 · External reference
Transgenic mice expressing mutant (N279K) human tau show mutation dependent cognitive deficits without neurofibrillary tangle formation
10.1016/j.febslet.2005.09.047 · 2005 · External reference
10.1371/journal.pgen.0030109
10.1371/journal.pgen.0030109 · External reference
Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage
10.1038/nature24644 · 2017 · External reference
Search-and-replace genome editing without double-strand breaks or donor DNA
10.1038/s41586-019-1711-4 · 2019 · External reference
Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases
10.1089/nat.2013.0461 · 2014 · External reference
Nusinersen versus sham control in infantile-onset spinal muscular atrophy
10.1056/nejmoa1702752 · 2017 · External reference
Tau-targeting antisense oligonucleotide MAPTRx in mild Alzheimer’s disease: A phase 1b, randomized, placebo-controlled trial
10.1038/s41591-023-02326-3 · 2023 · External reference
Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans
10.1038/35888 · 1998 · External reference
Therapeutic siRNA: State of the art
10.1038/s41392-020-0207-x · 2020 · External reference
Tau silencing by siRNA in the P301S mouse model of tauopathy
10.2174/156652321405140926160602 · 2014 · External reference
Allele-specific silencing of dominant disease genes
10.1073/pnas.1231012100 · 2003 · External reference
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10.1093/nar/gkh208 · 2004 · External reference
Unresolved reference
External reference
Development, opportunities, and challenges of siRNA nucleic acid drugs
10.1016/j.omtn.2024.102437 · 2025 · External reference
Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis
10.1056/nejmoa1716153 · 2018 · External reference
Givosiran: First approval
10.1007/s40265-020-01269-0 · 2020 · External reference
Lumasiran: First approval
10.1007/s40265-020-01463-0 · 2021 · External reference
Inclisiran: A new milestone on the PCSK9 road to tackle cardiovascular risk
10.1093/ehjcvp/pvab014 · 2021 · External reference
The growing class of novel RNAi therapeutics
10.1124/molpharm.124.000895 · 2024 · External reference
Three ‘E’ challenges for siRNA drug development
10.1016/j.molmed.2023.10.005 · 2024 · External reference
Unresolved reference
External reference
Correcting tau isoform ratios with a long-acting antisense oligonucleotide alleviates 4R-tauopathy phenotypes
10.1016/j.omtn.2025.102503 · 2025 · External reference
Exploratory tau biomarker results from a multiple ascending-dose study of BIIB080 in Alzheimer disease: A randomized clinical trial
10.1001/jamaneurol.2023.3861 · 2023 · External reference
Pharmacology of antisense drugs
10.1146/annurev-pharmtox-010716-104846 · 2017 · External reference
Antisense-mediated exon skipping decreases tau protein expression: A potential therapy for tauopathies
10.1038/mtna.2014.30 · 2014 · External reference
Exploratory analyses of clinical outcomes from the BIIB080 phase 1b study in mild Alzheimer’s disease
10.1038/s43587-025-01031-9 · 2026 · External reference
Antisense oligonucleotides provide optimism to the therapeutic landscape for tauopathies
10.4103/nrr.nrr-d-23-02057 · 2025 · External reference
Bottom-up design of small molecules that stimulate exon 10 skipping in mutant MAPT pre-mRNA
10.1002/cbic.201402069 · 2014 · External reference
Design, optimization, and study of small molecules that target tau pre-mRNA and affect splicing
10.1021/jacs.0c00768 · 2020 · External reference
10.3390/molecules26082263
10.3390/molecules26082263 · External reference
Design of an orally bioavailable small molecule that modulates the microtubule-associated protein tau’s pre-mRNA splicing
10.1021/acschembio.5c00260 · 2025 · External reference
Discovery of risdiplam, a selective survival of motor neuron-2 (SMN2) gene splicing modifier for the treatment of spinal muscular atrophy (SMA)
10.1021/acs.jmedchem.8b00741 · 2018 · External reference
SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice
10.1038/nchembio.1837 · 2015 · External reference
Mechanistic studies of a small-molecule modulator of SMN2 splicing
2018 · External reference
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders
10.1038/s41467-021-23663-2 · 2021 · External reference
Small molecule targeting of RNA structures in neurological disorders
10.1111/nyas.14051 · 2020 · External reference
Small molecule modulators of pre-mRNA splicing in cancer therapy
10.1016/j.molmed.2015.11.005 · 2016 · External reference
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia
10.1016/j.ajhg.2023.01.019 · 2023 · External reference
Reprogramming of tau alternative splicing by spliceosome-mediated RNA trans-splicing: Implications for tauopathies
10.1073/pnas.0503150102 · 2005 · External reference
Spliceosome-mediated RNA trans-splicing as a tool for gene therapy
10.1038/6986 · 1999 · External reference
Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing
10.1093/hmg/ddp264 · 2009 · External reference
Trans-splicing correction of tau isoform imbalance in a mouse model of tau mis-splicing
10.1093/hmg/ddt108 · 2013 · External reference
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10.3389/fbioe.2022.951384 · External reference
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage
10.1038/nature17946 · 2016 · External reference
Systematic optimization of prime editing for the efficient functional correction of CFTR F508del in human airway epithelial cells
10.1038/s41551-024-01233-3 · 2025 · External reference
Prime editing corrects the dilated cardiomyopathy causing RBM20-P633L-mutation in human cardiomyocytes
10.1016/j.omtn.2025.102734 · 2025 · External reference
Efficient prime editing in mouse brain, liver and heart with dual AAVs
10.1038/s41587-023-01758-z · 2024 · External reference
10.1038/s41551-026-01747-y
10.1038/s41551-026-01747-y · External reference
10.3389/fmolb.2025.1750807
10.3389/fmolb.2025.1750807 · External reference
Stabilization of the MAPT exon 10-intron 10 regulatory stem-loop structure by structure-specific aminoglycoside binders
2006 · External reference
Structural basis for recognition of the RNA major groove in the tau exon 10 splicing regulatory element by aminoglycoside antibiotics
10.1093/nar/28.3.710 · 2000 · External reference
10.3390/ph19010164
10.3390/ph19010164 · External reference
Functional selection of tau oligomerization-inhibiting aptamers
10.1002/anie.202402007 · 2024 · External reference
Inhibitory RNA aptamers of tau oligomerization and their neuroprotective roles against proteotoxic stress
10.1021/acs.molpharmaceut.6b00165 · 2016 · External reference
Brain drug delivery: Overcoming the blood-brain barrier to treat tauopathies
10.2174/1381612826666200316130128 · 2020 · External reference
The chemical evolution of oligonucleotide therapies of clinical utility
10.1038/nbt.3765 · 2017 · External reference
Pre-mRNA splicing in disease and therapeutics
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Delivery of oligonucleotide-based therapeutics: Challenges and opportunities
10.15252/emmm.202013243 · 2021 · External reference
Unresolved reference
External reference
Unresolved reference
External reference
Design of a phase 2, randomized, double-blind, placebo-controlled, parallel-group study to assess the efficacy, safety, and tolerability of BIIB080 in subjects with mild cognitive impairment due to Alzheimer’s disease or mild Alzheimer’s disease dementia
10.1002/alz.077322 · 2023 · External reference
Unresolved reference
External reference
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the phase 2 NURTURE study
10.1016/j.nmd.2019.09.007 · 2019 · External reference
Delivery of nusinersen through an Ommaya reservoir in spinal muscular atrophy
10.1097/cnd.0000000000000333 · 2021 · External reference
10.3390/biomedicines13092167
10.3390/biomedicines13092167 · External reference
Preliminary safety and tolerability of a novel subcutaneous intrathecal catheter system for repeated outpatient dosing of nusinersen to children and adults with spinal muscular atrophy
10.1097/bpo.0000000000001247 · 2018 · External reference
10.3389/fphar.2022.974666
10.3389/fphar.2022.974666 · External reference
Blood–brain barrier opening in Alzheimer’s disease using MR-guided focused ultrasound
10.1038/s41467-018-04529-6 · 2018 · External reference
Ultrasound-mediated blood–brain barrier opening enhances delivery of therapeutically relevant formats of a tau-specific antibody
10.1038/s41598-019-45577-2 · 2019 · External reference
Targeted degradation of aberrant tau in frontotemporal dementia patient-derived neuronal cell models
10.7554/elife.45457 · 2019 · External reference
Targeting tau: Clinical trials and novel therapeutic approaches
10.1016/j.neulet.2020.134919 · 2020 · External reference
Plasma phosphorylated tau 217 and phosphorylated tau 181 as biomarkers in Alzheimer’s disease and frontotemporal lobar degeneration: A retrospective diagnostic performance study
10.1016/s1474-4422(21)00214-3 · 2021 · External reference
Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: A comparison of the pallidopontonigral degeneration kindred and a French family
10.1001/archneur.59.6.943 · ExternalCitation · doi-reference
Exploratory tau biomarker results from a multiple ascending-dose study of BIIB080 in Alzheimer disease: A randomized clinical trial
10.1001/jamaneurol.2023.3861 · ExternalCitation · doi-reference
Design of a phase 2, randomized, double-blind, placebo-controlled, parallel-group study to assess the efficacy, safety, and tolerability of BIIB080 in subjects with mild cognitive impairment due to Alzheimer’s disease or mild Alzheimer’s disease dementia
10.1002/alz.077322 · ExternalCitation · doi-reference
Bezafibrate treatment rescues neurodevelopmental and neurodegenerative defects in 3D cortical organoid model of MAPT frontotemporal dementia
10.1002/alz.70419 · ExternalCitation · doi-reference
Functional selection of tau oligomerization-inhibiting aptamers
10.1002/anie.202402007 · ExternalCitation · doi-reference
Bottom-up design of small molecules that stimulate exon 10 skipping in mutant MAPT pre-mRNA
10.1002/cbic.201402069 · ExternalCitation · doi-reference
Expression of embryonic tau protein isoforms persist during adult neurogenesis in the hippocampus
10.1002/hipo.20255 · ExternalCitation · doi-reference
Minigenes to confirm exon skipping mutations
10.1007/978-1-61779-767-5_3 · ExternalCitation · doi-reference
A new non-aggregative splicing isoform of human Tau is decreased in Alzheimer’s disease
10.1007/s00401-021-02317-z · ExternalCitation · doi-reference
Dysregulated coordination of MAPT exon 2 and exon 10 splicing underlies different tau pathologies in PSP and AD
10.1007/s00401-021-02392-2 · ExternalCitation · doi-reference
Distinct isoforms of tau aggregated in neurons and glial cells in brains of patients with Pick’s disease, corticobasal degeneration and progressive supranuclear palsy
10.1007/s004010000283 · ExternalCitation · doi-reference
Familial frontotemporal dementia and parkinsonism with a novel N296H mutation in exon 10 of the tau gene and a widespread tau accumulation in the glial cells
10.1007/s004010000333 · ExternalCitation · doi-reference
Givosiran: First approval
10.1007/s40265-020-01269-0 · ExternalCitation · doi-reference
Lumasiran: First approval
10.1007/s40265-020-01463-0 · ExternalCitation · doi-reference
Developmentally regulated expression of specific tau sequences
10.1016/0896-6273(89)90077-9 · ExternalCitation · doi-reference
Multiple isoforms of human microtubule-associated protein tau: Sequences and localization in neurofibrillary tangles of Alzheimer’s disease
10.1016/0896-6273(89)90210-9 · ExternalCitation · doi-reference
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia
10.1016/j.ajhg.2023.01.019 · ExternalCitation · doi-reference
Neurodegenerative disorder FTDP-17-related tau intron 10 +16C\>T mutation increases tau exon 10 splicing and causes tauopathy in transgenic mice
10.1016/j.ajpath.2013.03.015 · ExternalCitation · doi-reference
Tau gene alternative splicing: Expression patterns, regulation and modulation of function in development and disease
10.1016/j.bbadis.2004.08.010 · ExternalCitation · doi-reference
Induction of pluripotent stem cells from adult human fibroblasts by defined factors
10.1016/j.cell.2007.11.019 · ExternalCitation · doi-reference
ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids
10.1016/j.cell.2021.07.003 · ExternalCitation · doi-reference
Altered tau isoform ratio caused by loss of FUS and SFPQ function leads to FTLD-like phenotypes
10.1016/j.celrep.2017.01.013 · ExternalCitation · doi-reference
Transgenic mice expressing mutant (N279K) human tau show mutation dependent cognitive deficits without neurofibrillary tangle formation
10.1016/j.febslet.2005.09.047 · ExternalCitation · doi-reference
Human organotypic brain slice cultures: A detailed and improved protocol for preparation and long-term maintenance
10.1016/j.jneumeth.2023.110055 · ExternalCitation · doi-reference
Alternative splicing in Alzheimer’s disease: Driver, modifier, or consequence of neurodegeneration
10.1016/j.mad.2026.112211 · ExternalCitation · doi-reference
Small molecule modulators of pre-mRNA splicing in cancer therapy
10.1016/j.molmed.2015.11.005 · ExternalCitation · doi-reference
Three ‘E’ challenges for siRNA drug development
10.1016/j.molmed.2023.10.005 · ExternalCitation · doi-reference
Differentiated NSC-34 motoneuron-like cells as experimental model for cholinergic neurodegeneration
10.1016/j.neuint.2013.03.008 · ExternalCitation · doi-reference
Targeting tau: Clinical trials and novel therapeutic approaches
10.1016/j.neulet.2020.134919 · ExternalCitation · doi-reference
A clinical, molecular genetics and pathological study of a FTDP-17 family with a heterozygous splicing variant c.823-10G\>T at the intron 9/exon 10 of the MAPT gene
10.1016/j.neurobiolaging.2021.05.010 · ExternalCitation · doi-reference
Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the phase 2 NURTURE study
10.1016/j.nmd.2019.09.007 · ExternalCitation · doi-reference
Development, opportunities, and challenges of siRNA nucleic acid drugs
10.1016/j.omtn.2024.102437 · ExternalCitation · doi-reference
Correcting tau isoform ratios with a long-acting antisense oligonucleotide alleviates 4R-tauopathy phenotypes
10.1016/j.omtn.2025.102503 · ExternalCitation · doi-reference
Prime editing corrects the dilated cardiomyopathy causing RBM20-P633L-mutation in human cardiomyocytes
10.1016/j.omtn.2025.102734 · ExternalCitation · doi-reference
Detection of all adult Tau isoforms in a 3D culture model of iPSC-derived neurons
10.1016/j.scr.2019.101541 · ExternalCitation · doi-reference
Distinct neurodegenerative changes in an induced pluripotent stem cell model of frontotemporal dementia linked to mutant TAU protein
10.1016/j.stemcr.2015.06.001 · ExternalCitation · doi-reference
Genetically engineered iPSC-derived FTDP-17 MAPT neurons display mutation-specific neurodegenerative and neurodevelopmental phenotypes
10.1016/j.stemcr.2018.06.022 · ExternalCitation · doi-reference
Lineage-specific splicing regulation of MAPT gene in the primate brain
10.1016/j.xgen.2024.100563 · ExternalCitation · doi-reference
Use of minigene systems to dissect alternative splicing elements
10.1016/j.ymeth.2005.07.015 · ExternalCitation · doi-reference
RNA stimulates aggregation of microtubule-associated protein tau into Alzheimer-like paired helical filaments
10.1016/s0014-5793(96)01386-5 · ExternalCitation · doi-reference
FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10
10.1016/s0014-5793(98)01696-2 · ExternalCitation · doi-reference
Tau protein isoforms, phosphorylation and role in neurodegenerative disorders
10.1016/s0165-0173(00)00019-9 · ExternalCitation · doi-reference
The in vivo minigene approach to analyze tissue-specific splicing
10.1016/s1385-299x(99)00043-4 · ExternalCitation · doi-reference
Plasma phosphorylated tau 217 and phosphorylated tau 181 as biomarkers in Alzheimer’s disease and frontotemporal lobar degeneration: A retrospective diagnostic performance study
10.1016/s1474-4422(21)00214-3 · ExternalCitation · doi-reference
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