Article
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Human molecular genetics - 13 Jan 2023
Flex Elisabetta, Albadri Shahad, Radio Francesca Clementina, Cecchetti Serena, Lauri Antonella, Priolo Manuela, Kissopoulos Marta, Carpentieri Giovanna, Fasano Giulia, Venditti Martina, Magliocca Valentina, Bellacchio Emanuele, Welch Carrie L, Colombo Paolo C, Kochav Stephanie M, Chang Richard, Barrick Rebekah, Trivisano Marina, Micalizzi Alessia, Borghi Rossella, Messina Elena, Mancini Cecilia, Pizzi Simone, De Santis Flavia, Rosello Marion, Specchio Nicola, Compagnucci Claudia, McWalter Kirsty, Chung Wendy K, Del Bene Filippo, Tartaglia Marco
Abstract excerpt
Kinesins are motor proteins involved in microtubule (MT)-mediated intracellular transport. They contribute to key cellular processes, including intracellular trafficking, organelle dynamics and cell division. Pathogenic variants in kinesin-encoding genes underlie several human diseases characterized by an extremely variable clinical phenotype, ranging from isolated neurodevelopmental/neurodegenerative disorders...
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