Author

Fabiana Longo

IRCCS Ospedale San RaffaeleORCID 0000-0002-1040-0476Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:protein design· 1 Assay:protein structure· 1

Frequent Co-Authors

Annarita MiluzioiD· 1 shared Daniele De RitisiD· 1 shared Davide Fraticelli· 1 shared Filippo Maria SantorelliiD· 1 shared Francesca MalteccaiD· 1 shared Jonathan BaetsiD· 1 shared Marina ScarlatoiD· 1 shared Stefano BiffoiD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

8 top collaborators · 28 mutual co-author links

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1 shared paperGenetics

Annarita MiluzioORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintMar 16, 2021

Sacsin cotranslational degradation causes autosomal recessive spastic ataxia of Charlevoix-Saguenay

Fabiana Longo, Daniele De Ritis, Annarita Miluzio…·Francesca Maltecca

This study identifies cotranslational degradation of mutant sacsin as the cause of ARSACS, explaining the lack of genotype-phenotype correlation and suggesting sacsin levels should be included in diagnostic algorithms.

DOI 10.1101/2021.03.16.435646

humanprotein structure