Article
Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2.
Archives of biochemistry and biophysics - 1 Jan 2026
Tolomeo Maria, Magliocca Valentina, Petrini Stefania, Nisco Alessia, Barbaro Roberto, Lanza Martina, Piccione Michela, Giudetti Anna Maria, Massey Keith, Console Lara, Indiveri Cesare, Zanier Katia, Bertini Enrico, Persichini Tiziana, Compagnucci Claudia, Colella Matilde, Barile Maria
Abstract excerpt
Riboflavin transporter deficiency Type 2 (RTD2, OMIM #614707), formerly known as Brown-Vialetto-Van Laere Syndrome 2 (BVVLS 2), is a rare autosomal recessive neurodegenerative disorder caused by biallelic variants in the SLC52A2 gene, encoding for riboflavin transporter 2 (RFVT2). This transporter plays a critical role in flavin cofactor delivery, particularly in the brain. Clinically, RTD2 presents with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.