Article
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
The Journal of clinical investigation - 17 Jul 2023
Launay Nathalie, Ruiz Montserrat, Planas-Serra Laura, Verdura Edgard, Rodríguez-Palmero Agustí, Schlüter Agatha, Goicoechea Leire, Guilera Cristina, Casas Josefina, Campelo Felix, Jouanguy Emmanuelle, Casanova Jean-Laurent, Boespflug-Tanguy Odile, Vazquez Cancela Maria, Gutiérrez-Solana Luis González, Casasnovas Carlos, Area-Gomez Estela, Pujol Aurora
Abstract excerpt
The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the ER and Golgi apparatus. Biallelic variants in RINT1 cause infantile-onset episodic acute liver failure (ALF). Here, we describe 3 individuals from 2 unrelated families with novel biallelic RINT1 loss-of-function variants who presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, and dysmorphic...
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