Loss of EPB41L3: Molecular Data for Neurofibromatosis Types 1 and 2

Zhgang Wang's research dataset compares genetic and proteomic profiles of Neurofibromatosis Type 1 (NF1) and Type 2 (NF2). It includes mutation analysis via Sanger sequencing for 15 patients and proteomic differences identified via TMT-labeled spectrometry. The dataset was last updated on 2026-05-12.

Use Cases

• Identify common differentially expressed proteins between NF1 and NF2 tumors based on the 11 upregulated and 30 downregulated proteins mentioned.
• Analyze the correlation between EPB41L3 loss of heterozygosity (LOH) and tumor type based on the reported 60% LOH rate in NF1 versus 20% in NF2.
• Investigate the functional role of EPB41L3 in cell proliferation and survival based on described overexpression and knockdown experiments.
• Study the relationship between EPB41L3 expression and neurofibromin/Merlin levels using the Western blot analysis results described.

Strengths

• Includes mutation data from 15 NF1 and NF2 patients.
• Proteomic analysis identified 159 significantly differentially expressed proteins in NF1 and 180 in NF2 compared to normal nerve controls.
• Quantified EPB41L3 loss of heterozygosity rates (60% in NF1, 20% in NF2).

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is small in scale at 698.5 KB.

Provenance

Source

Zhgang Wang via figshare.

Collection Method

Data generated from Sanger sequencing, TMT-labeled spectrometry, Western blot, and immunofluorescence on patient samples and cell cultures.

Freshness

Last updated 2026-05-12 13:04:28; freshness should be verified.