Article
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
European journal of human genetics : EJHG - 1 Apr 2024
Cascajo-Almenara Marivi V, Juliá-Palacios Natalia, Urreizti Roser, Sánchez-Cuesta Ana, Fernández-Ayala Daniel M, García-Díaz Elena, Oliva Clara, O Callaghan Maria Del Mar, Paredes-Fuentes Abraham J, Moreno-Lozano Pedro J, Muchart Jordi, Nascimento Andres, Ortez Carlos I, Natera-de Benito Daniel, Pineda Mercedes, Rivera Noelia, Fortuna Tyler R, Rajan Deepa S, Navas Plácido, Salviati Leonardo, Palau Francesc, Yubero Delia, García-Cazorla Angels, Pandey Udai Bhan, Santos-Ocaña Carlos, Artuch Rafael
Abstract excerpt
GEMIN5 exerts key biological functions regulating pre-mRNAs intron removal to generate mature mRNAs. A series of patients were reported harboring mutations in GEMIN5. No treatments are currently available for this disease. We treated two of these patients with oral Coenzyme Q10 (CoQ10), which resulted in neurological improvements, although MRI abnormalities remained. Whole Exome Sequencing demonstrated compound...
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