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Article

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

Human molecular genetics - 15 Jul 2016

Giunta Michele, Edvardson Shimon, Xu Yaobo, Schuelke Markus, Gomez-Duran Aurora, Boczonadi Veronika, Elpeleg Orly, Müller Juliane S, Horvath Rita

Abstract excerpt

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...

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Share to Cerebellum
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Atrophy, Spinal

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Source

Open in PubMed Open full text

Identifiers

PMID: 27193168
DOI: 10.1093/hmg/ddw149
PMCID: PMC5181591

Genes

RBM7
EXOSC8
EXOSC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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