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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Nature(2022)10.1038/s41586-022-04436-3Source: DataRank Database

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A is a research paper published in Nature (2022). On theSindex it has a DataRank of 0. It has been cited 525 times.

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Open Access525 citations

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Enrichment:Funding (35 grants)Impact (FWCI 53.06)OA: hybridTopics (73)Linked Datasets (18)DataCite Reuse (18)IDs (PubMed, PMC, OpenAlex)Annotations (5)SDGs (2)

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Context only (not used in score)

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Accessible (1/2)

Open Access

Interoperable (2/2)

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Reusable (0/3)

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Authors (95)

Oscar G. Wilkins ORCID,Matthew J. Keuss ORCID,Sarah E. Hill ORCID,Matteo Zanovello ORCID,Weaverly Colleen Lee ORCID

Live enrichment

PubMed:35197628 PMC:PMC8891020 OpenAlex:https://openalex.org/W4213435307

Motor Neurone Disease Association

Grant: Fratta/Apr19/868-791

Medical Research Council

Grant: UKDRI-6008

Motor Neurone Disease Association

Grant: HALLEGGER/OCT15/959-799

Medical Research Council

Grant: MR/M008606/1

Investigating deficits of axonal RNA metabolism and axonal signalling in amyotrophic lateral sclerosis

Motor Neurone Disease Association

Grant: TURNER/OCT15/972-797

NIA NIH HHS

Grant: U01 AG068880

The Francis Crick Institute

Grant: 10015

Wellcome Trust

Grant: 107116/Z/15/Z

Barts Charity

Grant: G-001960

Medical Research Council

Grant: MC_EX_MR/N501931/1

Medical Research Council

Grant: MC_PC_MR/S022708/1

NIGMS NIH HHS

Grant: T32 GM136577

Medical Research Council

Grant: MR/K018523/1

Motor Neurone Disease Association

Grant: Fratta/Mar19/951-795

Rosetrees

Grant: M438-F1

Medical Research Council

Grant: MR/S006508/1

The impact of TDP-43 on translation and the response to axonal damage in amyotrophic lateral sclerosis

Medical Research Council

Grant: MR/W005190/1

Barts Charity

Grant: MRC0218

Motor Neurone Disease Association

Grant: Ule/Apr22/886-791

Medical Research Council

Grant: 1650878

Wellcome Trust

Grant: 223022

Wellcome Trust

Grant: FC001002

Motor Neurone Disease Association

Grant: FRATTA/JAN15/946-795

Rosetrees

Grant: M599

Motor Neurone Disease Association

Grant: MALASPINA/APR13/817-791

Medical Research Council

Grant: MR/R005184/1

Investigating neuronal RNA localisation and translational deficits as gain of function mechanisms in ALS.

Motor Neurone Disease Association

Grant: Fratta/Apr19/893-792

NIA NIH HHS

Grant: R56 AG055824

NINDS NIH HHS

Grant: U54 NS123743

National Institutes of Health

Grant: 3U54NS123743-04S1

Discovery of novel TDP-43 splicing targets: the Achilles heel for FTD and towards sensitive biomarkers and therapeutic targets

National Institutes of Health

Grant: 2T32GM136577-06

Medical Scientist Training Program

Wellcome Trust

Grant: 107116

The mechanism controlling sorting and axonal retrograde transport in neurons.

European Commission

Grant: 835300

Multivalent interactions driving RNP dynamics in development and disease

National Institutes of Health

Grant: 3U01AG068880-02S1

Learning the Regulatory Code of Alzheimer's Disease Genomes

National Institutes of Health

Grant: 1R56AG055824-01A1

The Role of Alternative Splicing in Neurodegeneration

FWCI

53.06

Citation Percentile

1.0%

Citation Trend

2022

2023

2024

2025

2026

hybridLicense: cc-by

journalhttps://www.nature.com/articles/s41586-022-04436-3.pdf

publisherhttps://www.nature.com/articles/s41586-022-04436-3.pdf

publisherhttps://www.nature.com/articles/s41586-022-04436-3

journalhttps://doi.org/10.1038/s41586-022-04436-3

repositoryhttps://pubmed.ncbi.nlm.nih.gov/35197628

Fields of Study

Amyotrophic Lateral Sclerosis ResearchRNA Research and SplicingMitochondrial Function and Pathology0301 basic medicine03 medical and health sciences0303 health sciencesAlternative SplicingAmyotrophic Lateral SclerosisCodon, NonsenseDNA-Binding ProteinsFrontotemporal DementiaHumansNerve Tissue ProteinsPolymorphism, Single NucleotideTDP-43 Proteinopathies

MeSH Terms

Amyotrophic Lateral SclerosisDNA-Binding ProteinsHumansNerve Tissue ProteinsAlternative SplicingCodon, NonsensePolymorphism, Single NucleotideTDP-43 ProteinopathiesFrontotemporal Dementia

Keywords

Amyotrophic lateral sclerosisFrontotemporal dementiaSingle-nucleotide polymorphismRNA splicingSynapseC9orf72GeneDementiaNeuroscienceAlternative splicingLoss functionBiologyGeneticsMedicineInternal medicineDiseasePhenotypeGenotypeExonRNAGeneral Science & Technology610Nerve Tissue ProteinsNeurodegenerativePolymorphism, Single NucleotideArticleMedical Genetics and GenomicsRare DiseasesClinical ResearchAcquired Cognitive Impairment2.1 Biological and endogenous factorsHumansAetiologyPolymorphismCodonNYGC ALS ConsortiumPreventionNeurosciences500Single NucleotideMedicinsk genetik och genomikBrain DisordersDNA-Binding ProteinsNonsenseCodon, NonsenseTDP-43 ProteinopathiesNeurologicalALSNeurovetenskaper

Sustainable Development Goals

SDG 3: 3. Good healthSDG 0: Good health and well-being

Additional file 1 of Evidence of cerebellar TDP-43 loss of function in FTLD-TDP

10.6084/m9.figshare.20374469.v1figshare

Additional file 1 of Evidence of cerebellar TDP-43 loss of function in FTLD-TDP

10.6084/m9.figshare.20374469figshare

Additional file 1 of TDP-43-regulated cryptic RNAs accumulate in Alzheimer’s disease brains

10.6084/m9.figshare.24002642.v1figshare

Additional file 1 of TDP-43-regulated cryptic RNAs accumulate in Alzheimer’s disease brains

10.6084/m9.figshare.24002642figshare

Additional file 2 of TDP-43-regulated cryptic RNAs accumulate in Alzheimer’s disease brains

10.6084/m9.figshare.24002645.v1figshare

Additional file 2 of TDP-43-regulated cryptic RNAs accumulate in Alzheimer’s disease brains

10.6084/m9.figshare.24002645figshare

Additional file 3 of TDP-43-regulated cryptic RNAs accumulate in Alzheimer’s disease brains

10.6084/m9.figshare.24002648.v1figshare

Additional file 3 of TDP-43-regulated cryptic RNAs accumulate in Alzheimer’s disease brains

10.6084/m9.figshare.24002648figshare

Additional file 1 of HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases

10.6084/m9.figshare.25495209.v1figshare

Additional file 1 of HDGFL2 cryptic proteins report presence of TDP-43 pathology in neurodegenerative diseases

10.6084/m9.figshare.25495209figshare

Additional file 3 of Patterns of synaptic loss in human amyotrophic lateral sclerosis spinal cord: a clinicopathological study

10.6084/m9.figshare.26606368figshare

Additional file 2 of Patterns of synaptic loss in human amyotrophic lateral sclerosis spinal cord: a clinicopathological study

10.6084/m9.figshare.26606365.v1figshare

Additional file 4 of Patterns of synaptic loss in human amyotrophic lateral sclerosis spinal cord: a clinicopathological study

10.6084/m9.figshare.26606371.v1figshare

Additional file 3 of Patterns of synaptic loss in human amyotrophic lateral sclerosis spinal cord: a clinicopathological study

10.6084/m9.figshare.26606368.v1figshare

Additional file 1 of Patterns of synaptic loss in human amyotrophic lateral sclerosis spinal cord: a clinicopathological study

10.6084/m9.figshare.26606362.v1figshare

Additional file 1 of Patterns of synaptic loss in human amyotrophic lateral sclerosis spinal cord: a clinicopathological study

10.6084/m9.figshare.26606362figshare

Additional file 2 of Patterns of synaptic loss in human amyotrophic lateral sclerosis spinal cord: a clinicopathological study

10.6084/m9.figshare.26606365figshare

Additional file 4 of Patterns of synaptic loss in human amyotrophic lateral sclerosis spinal cord: a clinicopathological study

10.6084/m9.figshare.26606371figshare

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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

FAIR Checklist

Authors (95)

Funding (35 grants)

Impact

Open Access

Topics

Linked Datasets (18)

Annotations (Europe PMC)

Related Papers (10)