RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia

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-func...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348772/
https://www.ncbi.nlm.nih.gov/pubmed/37463447
http://dx.doi.org/10.1172/JCI162836

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348772/
https://www.ncbi.nlm.nih.gov/pubmed/37463447
http://dx.doi.org/10.1172/JCI162836

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