Laura Castilla‐Vallmanya

Activation of transposable elements is linked to a region- and cell-type-specific interferon response in Parkinson's disease

The paper investigates TE transcription in Parkinson's disease brains, finding region- and cell-type-specific TE activation linked to an interferon response in microglia and neurons.

De novo missense variants in TRIM28 identified in individuals with neurodevelopmental delay show features of transposable element activation

TRIM28 missense variants in individuals with neurodevelopmental delay disrupt epigenetic control of transposable elements, leading to altered gene expression and neurodevelopmental defects.

TEsingle enables locus-specific transposable element expression analysis at single-cell resolution

TEsingle provides locus-specific transposable element expression analysis in single-cell data, revealing cell-type-specific TE expression in Parkinson's Disease.

Retroviral insertions contributed to the divergence of human and chimpanzee brains

This study identifies a chimpanzee-specific retroviral insertion that influences gene regulation and brain development, highlighting its role in human-chimpanzee brain divergence.

LINE-1 retrotransposons regulate the exit of human pluripotency and early brain development

This study shows that L1 retrotransposons influence human pluripotency exit and early brain development through their expression and derived transcripts.

MORC2 directs transcription-dependent CpG methylation of human LINE-1 transposons in early neurodevelopment

This study shows MORC2 regulates CpG methylation of active LINE-1 retrotransposons during human neurodevelopment, similar to the piRNA pathway in the germline.

Mini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and disease

The paper shows that ZNF91 creates mini-heterochromatin domains that limit the regulatory impact of SVA transposons in human neural progenitor cells, contributing to XDP pathology.