Verónica Martínez‐Cerdeño

DNA Methylation and Proteomic Profiling of Postmortem Brain Tissue Reveals Epigenetic Dysregulation and Neuroinflammatory in Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)

This study identifies epigenetic and proteomic changes in FXTAS brains, linking DNA methylation and inflammation to neurodegeneration.

Long-read sequencing reveals extensive FMR1 somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brain

This study uses long-read sequencing to reveal extensive somatic mosaicism in FMR1 repeats and methylation in FXTAS brain tissue, identifying expansions and contractions beyond traditional methods' resolution.

Improvement of sensory deficits in Fragile X mice by increasing cortical interneuron activity after the critical period

Resolving the unsolved: Comprehensive assessment of tandem repeats at scale

The paper introduces TRGT, a tool for tandem repeat genotyping, and a database of 937,122 TRs across 100 genomes, achieving high concordance and detecting repeat expansions, methylation, and mosaicism.

Role of PARP1 in oligodendrocyte differentiation during developmental myelination and remyelination after myelin damage

This study identifies PARP1 as a key driver of oligodendrocyte differentiation and myelination, showing its role in both developmental and remyelination processes in the CNS.

Widespread RNA editing dysregulation in Autism Spectrum Disorders

This study identifies widespread hypo-editing in ASD brains and links RNA editing dysregulation to Fragile X syndrome through FMRP/FXR1P-ADAR interactions.