Article
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.
Nature communications - 15 Apr 2026
Magrinelli Francesca, Tesson Christelle, Angelova Plamena R, Rodriguez Jose A, Scardamaglia Annarita, O'Callaghan Benjamin, Lowe Simon A, Salazar-Villacorta Ainara, Chung Brian Hon-Yin, Jaconelli Matthew, Vona Barbara, Esteras Noemi, Mammana Angela, Shimazu Junko, Kwong Anna Ka-Yee, Courtin Thomas, Alavi Shahryar, Maroofian Reza, Nirujogi Raja, Severino Mariasavina, Monfrini Edoardo, Rocca Clarissa, Lewis Patrick A, Efthymiou Stephanie, Buchert Rebecca, Sofan Linda, Lis Pawel, Pinon Chloé, Breedveld Guido J, Chui Martin Man-Chun, Murphy David, Pitz Vanessa, Makarious Mary B, Baiardi Simone, Volin Marina, Cassar Marlene, Hassan Bassem A, Iftikhar Sana, Bauer Peter, Tinazzi Michele, Svetel Marina, Samanci Bedia, Hanağası Haşmet A, Bilgiç Basar, Cavallieri Francesco, Santangelo Mario, Obeso José A, Kurtis Monica M, Cogan Guillaume, Kiziltan Güneş, Gül-Demirkale Tuğçe, Tireli Hülya, Yüksel Gülbün A, Yalçın-Cakmakli Gül, Elibol Bülent, Barišić Nina, Ng Earny Wei-Sen, Fan Sze-Shing, Hershkovitz Tova, Weiss Karin, Alvi Javeria Raza, Sultan Tipu, Alkhawaja Issam Azmi, Froukh Tawfiq, Alrukban Hadeel Abdollah E, Anjum Muhammad Nadeem, Saeed Anjum, Cheema Huma Arshad, Fauth Christine, Schatz Ulrich A, Zöggeler Thomas, Zech Michael, Stals Karen, Varghese Vinod, Gandhi Sonia, Blauwendraat Cornelis, Hardy John A, Di Fonzo Alessio, Bonifati Vincenzo, Haack Tobias B, Bertoli-Avella Aida M, Lesage Suzanne, Başak Ayşe Nazlı, Steinfeld Robert, Parchi Piero, Jepson James E C, Alessi Dario R, Brice Alexis, Steller Hermann, Abramov Andrey Y, Bhatia Kailash P, Houlden Henry
Abstract excerpt
Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers and therapeutic targets. Here we identify PSMF1 as a gene implicated in parkinsonism and childhood neurodegeneration. We find that biallelic PSMF1 missense and...