Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins.

Human molecular genetics - 1 Feb 2015

Kino Yoshihiro, Washizu Chika, Kurosawa Masaru, Oma Yoko, Hattori Nobutaka, Ishiura Shoichi, Nukina Nobuyuki

Abstract excerpt

In some neurological diseases caused by repeat expansions such as myotonic dystrophy, the RNA-binding protein muscleblind-like 1 (MBNL1) accumulates in intranuclear inclusions containing mutant repeat RNA. The interaction between MBNL1 and mutant RNA in the nucleus is a key event leading to loss of MBNL function, yet the details of this effect have been elusive. Here, we investigated the mechanism and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Cell Line, Tumor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Nucleus

Share to Chlorocebus aethiops

Share to COS Cells

Share to Nuclear Localization Signals

Share to RNA-Binding Proteins

Share to Trinucleotide Repeat Expansion

Source

Identifiers

PMID: 25274774
DOI: 10.1093/hmg/ddu492

Genes

MBNL1
RAN

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins.PMID 25274774Read ↗

MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy BrainSemantic proximity Read ↗

Ubiquitination of MBNL1 Is Required for Its Cytoplasmic Localization and Function in Promoting Neurite OutgrowthSemantic proximity Read ↗

(CTG)n repeat-mediated dysregulation of MBNL1 and MBNL2 expression during myogenesis in DM1 occurs already at the myoblast stageSemantic proximity Read ↗

Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic DystrophySemantic proximity Read ↗

RNA-Binding Proteins and the Complex Pathophysiology of ALSSemantic proximity Read ↗

Gain of RNA function in pathological cases: Focus on myotonic dystrophy.Semantic proximity Read ↗

Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains.Semantic proximity Read ↗

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2.Semantic proximity Read ↗

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcriptsSemantic proximity Read ↗

Regulation of Toxic RNA Foci and Mutant <i>DMPK</i> Transcripts: Role of MBNL Proteins and RNA Decay PathwaysSemantic proximity Read ↗

Nuclear export and translation of circular repeat-containing intronic RNA in C9ORF72-ALS/FTD.Semantic proximity Read ↗

Dysregulation of mRNA Localization and Translation in Genetic Disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.