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

Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels.

Cell - 12 Mar 2015

Gennarino Vincenzo A, Singh Ravi K, White Joshua J, De Maio Antonia, Han Kihoon, Kim Ji-Yoen, Jafar-Nejad Paymaan, di Ronza Alberto, Kang Hyojin, Sayegh Layal S, Cooper Thomas A, Orr Harry T, Sillitoe Roy V, Zoghbi Huda Y

Abstract excerpt

Spinocerebellar ataxia type 1 (SCA1) is a paradigmatic neurodegenerative proteinopathy, in which a mutant protein (in this case, ATAXIN1) accumulates in neurons and exerts toxicity; in SCA1, this process causes progressive deterioration of motor coordination. Seeking to understand how post-translational modification of ATAXIN1 levels influences disease, we discovered that the RNA-binding protein PUMILIO1 (PUM1)...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, Ly
Share to Ataxin-1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ataxins

Share to Gene Knock-In Techniques

Share to Haploinsufficiency

Share to Neurodegenerative Diseases

Share to RNA Processing, Post-Transcriptional

Share to RNA Stability

Source

Open in PubMed Open full text

Identifiers

PMID: 25768905
DOI: 10.1016/j.cell.2015.02.012
PMCID: PMC4383046

Genes

PUM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels.PMID 25768905Read ↗

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.Semantic proximity Read ↗

Alpha-synuclein abundance and localization are regulated by the RNA-binding protein PUMILIO1Semantic proximity Read ↗

UTteR control through miRs: fine-tuning ATXN1 levels to prevent ataxia.Semantic proximity Read ↗

Dosage sensitivity in Pumilio1-related phenotypes reflects distinct disease mechanismsSemantic proximity Read ↗

Identification of the ataxin-1 interaction network and its impact on spinocerebellar ataxia type 1Semantic proximity Read ↗

Identification of genes that modify ataxin-1-induced neurodegeneration.Semantic proximity Read ↗

Dosage sensitivity to Pumilio1 variants in the mouse brain reflects distinct molecular mechanisms.Semantic proximity Read ↗

Distinct roles of IDR and CCD domains control PABPN1 aggregation and enable therapeutic rescueSemantic proximity Read ↗

Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice.Semantic proximity Read ↗

Disrupting ATXN1 Nuclear Localization in a Knock-in SCA1 Mouse Model Improves a Spectrum of SCA1-Like Phenotypes and their Brain Region Associated Transcriptomic ProfilesSemantic proximity Read ↗

ATXN2L primarily interacts with NUFIP2, the absence of ATXN2L results in NUFIP2 depletion, and the ATXN2-polyQ expansion triggers NUFIP2 accumulationSemantic proximity Read ↗

miR760 regulates ATXN1 levels via interaction with its 5' untranslated region.Semantic proximity Read ↗

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