The paper identifies biallelic variants in RNU2-2 as a frequent cause of a severe developmental epileptic encephalopathy, distinct from a dominant disorder, and links them to reduced U2-2 abundance.

Nature Genetics · Mar 30, 2026Peer-reviewedGenetic & Genomic Medicine

Phenotypic and transcriptomic characterisation of a novel biallelic RNU2-2 developmental and epileptic encephalopathy

Olivia J. Henry, Nadja Pekkola Pacheco, Irene Duba, Magnus K. O. Burstedt, Daniel Carlberg, Angelica Maria Delgado-Vega, Anna Hammarsjö, S. A. Ivarsson, Tord Jonson, Kristina Karrman, Nicole Lesko, Asa Lindfors, Daniel Nilsson, Mia Olsson Engman, Lucía Peña‐Pérez, , Tommy Stödberg

The paper identifies 14 individuals with biallelic RNU2-2 variants causing a severe developmental and epileptic encephalopathy, supported by phenotyping and fibroblast RNA sequencing.

medRxiv · Feb 23, 2026 · PreprintGenetic & Genomic Medicine

Intrinsic Heterogeneity of Primary Cilia Revealed Through Spatial Proteomics

Jan N. Hansen, Huangqingbo Sun, Konstantin Kahnert, Eini Westenius, Alexandra Johannesson, Carmela Villegas, Trang H. Le, Kalliopi Tzavlaki, Casper F. Winsnes, Emmie Pohjanen, Anna Mäkiniemi, Jenny Fall, Frederic Ballllosera Navarro, Anna Bäckström, Cecilia Lindskog, , Emma K. Lundberg

The paper uses spatial proteomics to analyze primary cilia proteomes across cell lines, revealing cell-type specificity and single-cilia heterogeneity, and identifies novel cilia proteins and potential genetic variants.

Cell · Sep 26, 2025Peer-reviewedCell Biology