Loss of EPB41L3: Proteomic and Genetic Profiles in Neurofibromatosis Types 1 and 2

A 2026 study by Erxing Tao investigating common molecular mechanisms in neurofibromatosis tumorigenesis. The dataset likely contains results from mutational analyses of NF1 and NF2 genes in 15 patients and proteomic comparisons identifying 159 and 180 differentially expressed proteins in NF1 and NF2 tumors, respectively. It was published under a CC-BY-4.0 license on figshare.

Use Cases

• Identify common differentially expressed proteins in NF1 and NF2 based on the proteomic profiling results.
• Analyze the correlation between EPB41L3 loss of heterozygosity and tumor type based on the reported 60% and 20% prevalence rates.
• Investigate the relationship between EPB41L3 expression and neurofibromin/Merlin levels based on Western blot analysis findings.
• Validate EPB41L3 as a potential therapeutic target for neurofibroma based on the study's conclusions.

Strengths

• Includes multi-omics data from 15 patient samples, combining genetic sequencing and proteomic spectrometry.
• Proteomic analysis identified specific counts of differentially expressed proteins: 159 in NF1 and 180 in NF2.
• Published under a permissive CC-BY-4.0 license, facilitating reuse and redistribution.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Sample size of 15 patients may limit the statistical power of the findings.

Provenance

Source

Erxing Tao via figshare.

Collection Method

Sanger sequencing, TMT-labeled spectrometry, Western blotting, and immunofluorescence on patient tumor samples and cell cultures.

Time Range

Study published in 2026; specific data collection period is not stated.

Freshness

Last updated 2026-05-20 04:33:14; freshness should be verified.

Geography

Geographic origin of patient samples is not specified.