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A unique missense mutation in the RING domain impairs MID1 E3 ubiquitin ligase activity and localisation and is associated with uncommon Opitz Syndrome-like signs
2024-01-01 Mascaro, Martina; D'Ambrosio, Luigi; Lazzari, Elisa; Almoguera, Berta; Swafiri, Saoud Tahsin; Zanchetta, Melania Eva; Meroni, Germana
Analysis of the Zn-Binding Domains of TRIM32, the E3 Ubiquitin Ligase Mutated in Limb Girdle Muscular Dystrophy 2H
2019-01-01 Lazzari, Elisa; El-Halawany, Medhat; De March, Matteo; Valentino, Floriana; Cantatore, Francesco; Migliore, Chiara; Onesti, Silvia; Meroni, Germana
TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases
2021-01-01 Kumarasinghe, Lorena; Xiong, Lu; Garcia-Gimeno, Maria Adelaida; Lazzari, Elisa; Sanz, Pascual; Meroni, Germana