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

Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease.

Scientific reports - 18 Mar 2021

Minnis Christopher J, Townsend StJohn, Petschnigg Julia, Tinelli Elisa, Bähler Jürg, Russell Claire, Mole Sara E

Abstract excerpt

Juvenile CLN3 disease is a recessively inherited paediatric neurodegenerative disorder, with most patients homozygous for a 1-kb intragenic deletion in CLN3. The btn1 gene is the Schizosaccharomyces pombe orthologue of CLN3. Here, we have extended the use of synthetic genetic array (SGA) analyses to delineate functional signatures for two different disease-causing mutations in addition to complete deletion of...

Read the complete abstract on PubMed

Topics

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

Share to Gene Deletion
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Glycoproteins

Share to Membrane Proteins

Share to Molecular Chaperones

Share to Neuronal Ceroid-Lipofuscinoses

Share to Schizosaccharomyces

Share to Schizosaccharomyces pombe Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 33737578
DOI: 10.1038/s41598-021-85471-4
PMCID: PMC7973434

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease.PMID 33737578Read ↗

<i>CLN3</i> transcript complexity revealed by long-read RNA sequencing analysisSemantic proximity Read ↗

Targeted long-read RNA sequencing reveals the complexity of <i>CLN3</i> transcription and the consequences of the most common 1-kb deletion in patients with juvenile CLN3 diseaseSemantic proximity Read ↗

Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 DiseaseSemantic proximity Read ↗

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.Semantic proximity Read ↗

Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathwaysSemantic proximity Read ↗

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.Semantic proximity Read ↗

Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

The Batten disease gene CLN3 is required for the response to oxidative stress.Semantic proximity Read ↗

Loss of the lysosomal protein CLN3 modifies the lipid content of the nuclear envelope leading to DNA damage and activation of YAP1 pro-apoptotic signalingSemantic proximity Read ↗

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.Semantic proximity Read ↗

Toward Early Diagnosis and Therapeutic Discovery in CLN3 Disease: A Computational Biomarker Discovery FrameworkSemantic proximity Read ↗

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