Search Results - "Ling, Jonathan P."
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TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD
Published in Science (American Association for the Advancement of Science) (07-08-2015)“…Cytoplasmic aggregation of TDP-43, accompanied by its nuclear clearance, is a key common pathological hallmark of amyotrophic lateral sclerosis and…”
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recount3: summaries and queries for large-scale RNA-seq expression and splicing
Published in Genome Biology (29-11-2021)“…We present recount3, a resource consisting of over 750,000 publicly available human and mouse RNA sequencing (RNA-seq) samples uniformly processed by our new…”
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Splicing repression is a major function of TDP-43 in motor neurons
Published in Acta neuropathologica (01-11-2019)“…Nuclear depletion of TDP-43, an essential RNA binding protein, may underlie neurodegeneration in amyotrophic lateral sclerosis (ALS). As several functions have…”
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HnRNP L represses cryptic exons
Published in RNA (Cambridge) (01-06-2018)“…The fidelity of RNA splicing is regulated by a network of splicing enhancers and repressors, although the rules that govern this process are not yet fully…”
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ASCOT identifies key regulators of neuronal subtype-specific splicing
Published in Nature communications (09-01-2020)“…Public archives of next-generation sequencing data are growing exponentially, but the difficulty of marshaling this data has led to its underutilization by…”
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Amyloid-beta and tau pathologies act synergistically to induce novel disease stage-specific microglia subtypes
Published in Molecular neurodegeneration (17-12-2022)“…Amongst risk alleles associated with late-onset Alzheimer's disease (AD), those that converged on the regulation of microglia activity have emerged as central…”
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PTBP1 and PTBP2 Repress Nonconserved Cryptic Exons
Published in Cell reports (Cambridge) (27-09-2016)“…The fidelity of RNA splicing is maintained by a network of factors, but the molecular mechanisms that govern this process have yet to be fully elucidated. We…”
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Stage-specific control of oligodendrocyte survival and morphogenesis by TDP-43
Published in eLife (21-03-2022)“…Generation of oligodendrocytes in the adult brain enables both adaptive changes in neural circuits and regeneration of myelin sheaths destroyed by injury,…”
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Elevated nuclear TDP-43 induces constitutive exon skipping
Published in Molecular neurodegeneration (09-06-2024)“…Cytoplasmic inclusions and loss of nuclear TDP-43 are key pathological features found in several neurodegenerative disorders, suggesting both gain- and…”
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Multivalent GU-rich oligonucleotides sequester TDP-43 in the nucleus by inducing high molecular weight RNP complexes
Published in iScience (21-06-2024)“…TDP-43 nuclear clearance and cytoplasmic aggregation are hallmarks of TDP-43 proteinopathies. We recently demonstrated that binding to endogenous nuclear…”
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A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS–FTD
Published in Nature medicine (01-02-2024)“…Although loss of TAR DNA-binding protein 43 kDa (TDP-43) splicing repression is well documented in postmortem tissues of amyotrophic lateral sclerosis (ALS)…”
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Loss of TDP-43 splicing repression occurs early in the aging population and is associated with Alzheimer’s disease neuropathologic changes and cognitive decline
Published in Acta neuropathologica (01-06-2024)“…LATE-NC, the neuropathologic changes of limbic-predominant age-related TAR DNA-binding protein 43 kDa (TDP-43) encephalopathy are frequently associated with…”
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Cryptic exon incorporation occurs in Alzheimer’s brain lacking TDP-43 inclusion but exhibiting nuclear clearance of TDP-43
Published in Acta neuropathologica (01-06-2017)“…Abnormal accumulation of TDP-43 into cytoplasmic or nuclear inclusions with accompanying nuclear clearance, a common pathology initially identified in…”
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Loss of TDP-43 function and rimmed vacuoles persist after T cell depletion in a xenograft model of sporadic inclusion body myositis
Published in Science translational medicine (19-01-2022)“…Sporadic inclusion body myositis (IBM) is the most common acquired muscle disease in adults over age 50, yet it remains unclear whether the disease is…”
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Author Correction: A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS–FTD
Published in Nature medicine (01-05-2024)Get full text
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Depletion of TDP-43 decreases fibril and plaque β-amyloid and exacerbates neurodegeneration in an Alzheimer’s mouse model
Published in Acta neuropathologica (01-12-2016)“…TDP-43 proteinopathy, initially associated with ALS and FTD, is also found in 30–60% of Alzheimer’s disease (AD) cases and correlates with worsened cognition…”
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Cell-specific regulation of gene expression using splicing-dependent frameshifting
Published in Nature communications (01-10-2022)“…Precise and reliable cell-specific gene delivery remains technically challenging. Here we report a splicing-based approach for controlling gene expression…”
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Tdp-43 cryptic exons are highly variable between cell types
Published in Molecular neurodegeneration (02-02-2017)“…TDP-43 proteinopathy is a prominent pathological feature that occurs in a number of human diseases including amyotrophic lateral sclerosis (ALS),…”
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An LHX1-Regulated Transcriptional Network Controls Sleep/Wake Coupling and Thermal Resistance of the Central Circadian Clockworks
Published in Current biology (09-01-2017)“…The suprachiasmatic nucleus (SCN) is the central circadian clock in mammals. It is entrained by light but resistant to temperature shifts that entrain…”
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The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts
Published in Blood advances (13-08-2024)“…•The E592K variant of SF3B1 induces unique RNA missplicing that is nonoverlapping with other MDS-associated variants.•E592K is associated with elevated blasts,…”
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