Nasrinsadat Nabavizadeh

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.

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.

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian Disorder

This study identifies two RBSN missense variants causing a Mendelian disorder with muscle weakness and intellectual disability by disrupting endosomal recycling and lysosomal degradation.