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12 p, 2.9 MB Cryo-EM structure of hnRNPDL-2 fibrils, a functional amyloid associated with limb-girdle muscular dystrophy D3 / Garcia-Pardo, Javier (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Bartolomé-Nafría, Andrea (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí") ; Chaves-Sanjuan, Antonio (Università degli Studi di Milano. Dipartimento di Bioscienze) ; Gil Garcia, Marcos (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular) ; Visentin, Cristina (Università degli Studi di Milano. Dipartimento di Bioscienze) ; Bolognesi, Martino (Università degli Studi di Milano. CRC Fondazione Romeo e Enrica Invernizzi and NOLIMITS) ; Ricagno, Stefano (Policlinico San Donato. Institute of Molecular and Translational Cardiology, I.R.C.C.S.) ; Ventura, Salvador (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
hnRNPDL is a ribonucleoprotein (RNP) involved in transcription and RNA-processing that hosts missense mutations causing limb-girdle muscular dystrophy D3 (LGMD D3). Mammalian-specific alternative splicing (AS) renders three natural isoforms, hnRNPDL-2 being predominant in humans. [...]
2023 - 10.1038/s41467-023-35854-0
Nature communications, Vol. 14 (January 2023) , art. 239  

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