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

Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.

International journal of molecular sciences - 31 Aug 2022

Rzepnikowska Weronika, Kaminska Joanna, Kochański Andrzej

Abstract excerpt

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a heritable neurodegenerative disease characterized by rapid respiratory failure within the first months of life and progressive muscle weakness and wasting. Although the causative gene, IGHMBP2, is well defined, information on IGHMBP2 mutations is not always sufficient to diagnose particular patients, as the gene is highly polymorphic and the...

Read the complete abstract on PubMed

Topics

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

Share to DNA-Binding Proteins
Share to Muscular Atrophy, Spinal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Neurodegenerative Diseases

Share to Saccharomyces cerevisiae

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 36077311
DOI: 10.3390/ijms23179913
PMCID: PMC9456350

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model.PMID 36077311Read ↗

Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model.Semantic proximity Read ↗

Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.Semantic proximity Read ↗

Yeast as a Tool to Understand the Significance of Human Disease-Associated Gene Variants.Semantic proximity Read ↗

Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability.Semantic proximity Read ↗

An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1).Semantic proximity Read ↗

Protein-protein interactions and disease: use of S. cerevisiae as a model system.Semantic proximity Read ↗

Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency.Semantic proximity Read ↗

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.Semantic proximity Read ↗

Homo cerevisiae-Leveraging Yeast for Investigating Protein-Protein Interactions and Their Role in Human Disease.Semantic proximity Read ↗

Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.Semantic proximity Read ↗

Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.Semantic proximity Read ↗

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells.Semantic proximity Read ↗

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