RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
Launay N, Ruiz M, Planas-Serra L, Verdura E, Rodríguez-Palmero A, Schlüter A, Goicoechea L, Guilera C, Casas J, Campelo F, Jouanguy E, Casanova JL, Boespflug-Tanguy O, Vazquez Cancela M, Gutiérrez-Solana LG, Casasnovas C, Area-Gomez E, Pujol A.
Launay N, et al. Among authors: area gomez e.
J Clin Invest. 2023 Jul 17;133(14):e162836. doi: 10.1172/JCI162836.
J Clin Invest. 2023.
PMID: 37463447
Free PMC article.