Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmenta...
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders
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Author / Creator
Cozzi, Marta , Magri, Stefania , Tedesco, Barbara , Patelli, Guglielmo , Ferrari, Veronica , Casarotto, Elena , Chierichetti, Marta , Pramaggiore, Paola , Cornaggia, Laura , Piccolella, Margherita , Galbiati, Mariarita , Rusmini, Paola , Crippa, Valeria , Mandrioli, Jessica , Pareyson, Davide , Pisciotta, Chiara , D’Arrigo, Stefano , Ratti, Antonia , Nanetti, Lorenzo , Mariotti, Caterina , Sarto, Elisa , Pensato, Viviana , Gellera, Cinzia , Di Bella, Daniela , Cristofani, Riccardo M. , Taroni, Franco and Poletti, Angelo
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Mutations targeting distinct domains of the neuron-specific kinesin KIF5A associate with different neurodegenerative/neurodevelopmental disorders, but the molecular bases of this clinical heterogeneity are unknown. We characterised five key mutants covering the whole spectrum of
KIF5A
-related phenotypes: spastic paraplegia (SPG, R17Q and R28...
Alternative Titles
Full title
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders
Authors, Artists and Contributors
Author / Creator
Magri, Stefania
Tedesco, Barbara
Patelli, Guglielmo
Ferrari, Veronica
Casarotto, Elena
Chierichetti, Marta
Pramaggiore, Paola
Cornaggia, Laura
Piccolella, Margherita
Galbiati, Mariarita
Rusmini, Paola
Crippa, Valeria
Mandrioli, Jessica
Pareyson, Davide
Pisciotta, Chiara
D’Arrigo, Stefano
Ratti, Antonia
Nanetti, Lorenzo
Mariotti, Caterina
Sarto, Elisa
Pensato, Viviana
Gellera, Cinzia
Di Bella, Daniela
Cristofani, Riccardo M.
Taroni, Franco
Poletti, Angelo
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_4ee9d6c2a3624724948ed40d302b0625
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4ee9d6c2a3624724948ed40d302b0625
Other Identifiers
ISSN
2041-4889
E-ISSN
2041-4889
DOI
10.1038/s41419-024-07096-5
