This study investigates age-related mitochondrial structural deficits in the kidney, finding that the MICOS complex is impaired, leading to increased oxidative stress and mitochondrial dysfunction.

Aging Cell · May 1, 2026Peer-reviewedPhysiology

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment

Florian Buerger, Daanya Salmanullah, Lorrin Liang, Victoria C. Gauntner, Kavita Krueger, Jiansong Qi, Josée Normand, Vineeta Sharma, Arathi Ranga, Alexander Rubin, David Ball, Sunwoo Hong, Katharina Lemberg, Ken Saida, Lea Maria Merz, , Amar J. Majmundar

This study identifies recessive variants in the NOS1AP-C1orf226 intergenic locus causing monogenic kidney disease and shows responsiveness to anti-proteinuric treatment.

Nature Communications · Nov 27, 2025Peer-reviewedGenetic & Genomic Medicine

Mesoscale landscaping of the TRIM protein family reveals a novel human condensatopathy

Hari Singh, Vineeta Sharma, Jik Nijssen, Andrei Pozniakovsky, Alexander Rubin, Lorrin Liang, David A. Ball, Sunwoo Hong, Victoria C. Gauntner, Guanghao Yu, Arathi Ranga, David J. Salant, Friedhelm Hildebrandt, Anthony A. Hyman, Amar J. Majmundar

This study investigates mesoscale organization of TRIM proteins, finding that TRIM8 truncations cause condensatopathy by disrupting condensation and signaling pathways.

bioRxiv · Jan 2, 2025 · PreprintCell Biology