Nathalie Escande‐Beillard

Snurportin-1 maintains muscle niche integrity and myogenic progenitor homeostasis

This study identifies Snurportin-1 as critical for skeletal muscle homeostasis by linking RNA processing to extracellular niche integrity and myogenic progenitor maintenance using a zebrafish model.

PYCR1 Levels Track with Premature and Chronological Skin Aging

The paper investigates PYCR1 levels in skin aging, finding they decrease with both induced and chronological aging in human skin.

Deciphering the consequence of deep intronic variants: a progeroid syndrome caused by a TAPT1 mutation is revealed by combined RNA/SI-NET sequencing

The paper identifies a deep intronic TAPT1 mutation causing progeroid syndrome using RNA-seq and homozygosity mapping, showing it leads to exon skipping and protein-null allele.

A Progeroid Syndrome Caused by RAF1 deficiency Underscores the importance of RTK signaling for Human Development

A germline RAF1 mutation causes a neonatal lethal progeroid syndrome, highlighting RTK signaling's role in human development.

Omics profiling identifies MAPK/ERK pathway as a gatekeeper of nephron progenitor metabolism

The paper identifies the MAPK/ERK pathway as critical for nephron progenitor metabolism, showing its role in energy and nucleotide biosynthesis, glycolysis, and proline metabolism.