ArticleThe Journal of cell biology2007
Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains.
Article in The Journal of cell biology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 65 citations in OpenAlex.
- Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype.Annual review of genomics and human genetics · 2025Review
- Native functions of short tandem repeats.eLife · 2023Article
- Alternative processing of human HTT mRNA with implications for Huntington's disease therapeutics.Brain : a journal of neurology · 2022Article
- Nuclear speckles - a driving force in gene expression.Journal of cell science · 2022Review
- A comprehensive atlas of fetal splicing patterns in the brain of adult myotonic dystrophy type 1 patients.NAR genomics and bioinformatics · 2022Article
- Widespread severe myodegeneration in a compound heterozygote female dog with dystrophin deficiency.Veterinary medicine and science · 2021Article
- RNAs as Regulators of Cellular Matchmaking.Frontiers in molecular biosciences · 2021Review
- Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy.International journal of molecular sciences · 2019Review
- Accumulation of poly(A) RNA in nuclear granules enriched in Sam68 in motor neurons from the SMNΔ7 mouse model of SMA.Scientific reports · 2018Article
- Deregulation of RNA Metabolism in Microsatellite Expansion Diseases.Advances in neurobiology · 2018Review
- Nuclear speckles: molecular organization, biological function and role in disease.Nucleic acids research · 2017Review
- RNA biology of disease-associated microsatellite repeat expansions.Acta neuropathologica communications · 2017Review
- Mechanistic determinants of MBNL activity.Nucleic acids research · 2016Article
- Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.Acta neuropathologica · 2015Article
- Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions.Brain : a journal of neurology · 2014Article
- Stable C0T-1 repeat RNA is abundant and is associated with euchromatic interphase chromosomes.Cell · 2014Article
- Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1.Disease models & mechanisms · 2014Article
- Muscleblind-like1 undergoes ectopic relocation in the nuclei of skeletal muscles in myotonic dystrophy and sarcopenia.European journal of histochemistry : EJH · 2013Article
- A multifaceted FISH approach to study endogenous RNAs and DNAs in native nuclear and cell structures.Current protocols in human genetics · 2013Article
- Cellular toxicity of expanded RNA repeats: focus on RNA foci.Human molecular genetics · 2011Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
In myotonic dystrophy type 1 (DM1), triplet repeat expansion in the 3' untranslated region of dystrophia myotonica protein kinase (DMPK) causes the nuclear retention of mutant messenger RNA (mRNA). Although the DMPK gene locus positions precisely at the outer edge of a factor-rich SC-35 domain, the normal mRNA consistently accumulates within the domain, and this RNA is depleted upon transcriptional inhibition. In DM1, mutant transcripts detach from the gene but accumulate in granules that abut but do not enter SC-35 domains, suggesting that RNA entry into the domain is blocked. Despite their exclusion from these compartments, mutant transcripts are spliced. MBNL1 (muscleblind-like protein 1) is an alternative splicing factor that becomes highly concentrated with mutant RNA foci. Small interfering RNA-mediated knockdown of MBNL1 promotes the accumulation or entry of newly synthesized mutant transcripts in the SC-35 domain. Collectively, these data suggest that an initial step in the intranuclear path of some mRNAs is passage from the gene into an SC-35 domain and implicate these structures in postsplicing steps before export.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.