ArticleHuman molecular genetics2016
Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 41 citations in OpenAlex.
- Review
- Review
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- Autism candidate genebioRxiv : the preprint server for biology · 2024Article
- Selection on synonymous sites: the unwanted transcript hypothesis.Nature reviews. Genetics · 2024Review
- Nuclear RNA catabolism controls endogenous retroviruses, gene expression asymmetry, and dedifferentiation.Molecular cell · 2023Article
- Genome-Wide Characterization of the RNA Exosome Complex in Relation to Growth, Development, and Pathogenicity of Fusarium graminearum.Microbiology spectrum · 2023Article
- C-terminal determinants for RNA binding motif 7 protein stability and RNA recognition.Biophysical chemistry · 2023Article
- Pontocerebellar Hypoplasia Type 1D: A Case Report and Comprehensive Literature Review.Journal of clinical medicine · 2022Article
- Structure and regulation of the nuclear exosome targeting complex guides RNA substrates to the exosome.Molecular cell · 2022Article
- Structural basis for RNA surveillance by the human nuclear exosome targeting (NEXT) complex.Cell · 2022Article
- Nuclear RNA Exosome and Pervasive Transcription: Dual Sculptors of Genome Function.International journal of molecular sciences · 2021Review
- RNA helicases are hubs that orchestrate exosome-dependent 3'-5' decay.Current opinion in structural biology · 2021Review
- Post-transcriptional control of cellular differentiation by the RNA exosome complex.Nucleic acids research · 2020Review
- Altered rRNA processing disrupts nuclear RNA homeostasis via competition for the poly(A)-binding protein Nab2.Nucleic acids research · 2020Article
- Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.Human molecular genetics · 2020Article
- RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels.Life science alliance · 2020Article
- Revisiting Cell Death Responses in Fibrotic Lung Disease: Crosstalk between Structured and Non-Structured Cells.Diagnostics (Basel, Switzerland) · 2020Review
- Combined bioscaffold with stem cells and exosomes can improve traumatic brain injury.Stem cell reviews and reports · 2020Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
Abstract
The exosome complex is the most important RNA processing machinery within the cell. Mutations in its subunits EXOSC8 and EXOSC3 cause pontocerebellar hypoplasia, spinal muscular atrophy (SMA) and central nervous system demyelination. We present a patient with SMA-like phenotype carrying a homozygous mutation in RBM7-a subunit of the nuclear exosome targeting (NEXT) complex-which is known to bind and carry specific subtypes of coding and non-coding RNAs to the exosome. The NEXT complex with other protein complexes is responsible for the substrate specificity of the exosome. We performed RNA-sequencing (RNA-seq) analysis on primary fibroblasts of patients with mutations in EXOSC8 and RBM7 and gene knock-down experiments using zebrafish as a model system. RNA-seq analysis identified significantly altered expression of 62 transcripts shared by the two patient cell lines. Knock-down of rbm7, exosc8 and exosc3 in zebrafish showed a common pattern of defects in motor neurons and cerebellum. Our data indicate that impaired RNA metabolism may underlie the clinical phenotype by fine tuning gene expression which is essential for correct neuronal differentiation.
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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.