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April 21, 2026SHILAP Revista de lepidopterología0 citationsOpen Access

Integrated Multi-Omics Profiling Reveals Biomarkers and Pathways in FXTAS

Integrated multi-omics profiling reveals novel molecular biomarkers and pathways associated with Fragile X-associated tremor/ataxia syndrome

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Authors

MZMarwa ZafarullahMPMatthew PonziniKKKyoungmi Kim

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Overview

Integrated multi-omics profiling identifies molecular biomarkers in FXTAS patients, suggesting new avenues for therapeutic evaluation.

Key Points

  • The research aims to identify molecular biomarkers and pathways associated with Fragile X-associated tremor/ataxia syndrome (FXTAS).
  • Conducted a multi-omics study combining metabolomics and proteomics analyses in FXTAS participants and healthy controls.
  • Analyzed plasma and peripheral blood mononuclear cells for molecular differences and potential biomarkers.
  • Compared proteomic data to identify markers related to clinical stage and CGG repeat size.
  • Identified alterations in metabolites linked to energy metabolism, lipids, and selected amines in FXTAS participants.
  • Highlighted proteins and pathways associated with FXTAS, including mitochondrial function and immune-inflammatory signaling.
  • Found candidate markers Basigin (CD147) and phospholipid transfer protein C2CD2 across different biological matrices.

Cite This Study

Zafarullah et al. (2026) studied this question.

synapsesocial.com/papers/69e7132bcb99343efc98cf5dhttps://doi.org/10.3389/fnmol.2026.1752903
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