Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.
Mohren L, Erdlenbruch F, Leitão E, Kilpert F, Hönes GS, Kaya S, Schröder C, Thieme A, Sturm M, Park J, Schlüter A, Ruiz M, Morales de la Prida M, Casasnovas C, Becker K, Roggenbuck U, Pechlivanis S, Kaiser FJ, Synofzik M, Wirth T, Anheim M, Haack TB, Lockhart PJ, Jöckel KH, Pujol A, Klebe S, Timmann D, Depienne C.Nat Commun. 2024 Sep 3;15(1):7665. doi: 10.1038/s41467-024-52148-1.PMID: 39227614
Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.
Launay N, Lopez-Erauskin J, Bianchi P, Guha S, Parameswaran J, Coppa A, Torreni L, Schlüter A, Fourcade S, Paredes-Fuentes AJ, Artuch R, Casasnovas C, Ruiz M, Pujol A.Brain. 2024 Jun 3;147(6):2069-2084. doi: 10.1093/brain/awae038.PMID: 38763511
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A.Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2.PMID: 37679823
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
Weinhofer I, Rommer P, Gleiss A, Ponleitner M, Zierfuss B, Waidhofer-Söllner P, Fourcade S, Grabmeier-Pfistershammer K, Reinert MC, Göpfert J, Heine A, Yska HAF, Casasnovas C, Cantarín V, Bergner CG, Mallack E, Forss-Petter S, Aubourg P, Bley A, Engelen M, Eichler F, Lund TC, Pujol A, Köhler W, Kühl JS, Berger J.EBioMedicine. 2023 Oct;96:104781. doi: 10.1016/j.ebiom.2023.104781. Epub 2023 Sep 7.PMID: 37683329
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.J Clin Invest. 2023 Jul 17;133(14):e162836. doi: 10.1172/JCI162836.PMID: 37463447
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou C, Juliá-Palacios N, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, Gelot A, Marsal M, Loza-Alvarez P, García-Cazorla À, Fatemi A, Ferrer I, Portero-Otin M, Area-Gómez E, Pujol A.J Clin Invest. 2023 May 15;133(10):e162957. doi: 10.1172/JCI162957.PMID: 36951944
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence.
Verdura E, Senger B, Raspall-Chaure M, Schlüter A, Launay N, Ruiz M, Casasnovas C, Rodriguez-Palmero A, Macaya A, Becker HD, Pujol A.J Med Genet. 2022 Dec;59(12):1227-1233. doi: 10.1136/jmg-2022-108529. Epub 2022 Aug 30.PMID: 36041817
Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy.
Parameswaran J, Goicoechea L, Planas-Serra L, Pastor A, Ruiz M, Calingasan NY, Guilera C, Aso E, Boada J, Pamplona R, Portero-Otín M, de la Torre R, Ferrer I, Casasnovas C, Pujol A, Fourcade S.Acta Neuropathol. 2022 Aug;144(2):241-258. doi: 10.1007/s00401-022-02451-2. Epub 2022 Jul 1.PMID: 35778568
Epigenetic profiling linked to multisystem inflammatory syndrome in children (MIS-C): A multicenter, retrospective study.
Davalos V, García-Prieto CA, Ferrer G, Aguilera-Albesa S, Valencia-Ramos J, Rodríguez-Palmero A, Ruiz M, Planas-Serra L, Jordan I, Alegría I, Flores-Pérez P, Cantarín V, Fumadó V, Viadero MT, Rodrigo C, Méndez-Hernández M, López-Granados E, Colobran R, Rivière JG, Soler-Palacín P, Pujol A, Esteller M.EClinicalMedicine. 2022 Jun 25;50:101515. doi: 10.1016/j.eclinm.2022.101515. eCollection 2022 Aug.PMID: 35770252
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
Guasto A, Dubail J, Aguilera-Albesa S, Paganini C, Vanhulle C, Haouari W, Gorría-Redondo N, Aznal-Sainz E, Boddaert N, Planas-Serra L, Schlüter A, Vélez-Santamaría V, Verdura E, Bruneel A, Rossi A, Huber C, Pujol A, Cormier-Daire V.Brain. 2022 Oct 21;145(10):3711-3722. doi: 10.1093/brain/awac110.PMID: 35325049
