Author

Francesca Maltecca

Vita-Salute San Raffaele UniversityORCID 0000-0001-8095-8208Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:differential expression· 1 Organism:human· 1 Organism:mouse· 1 Research Focus:protein design· 1 Assay:protein structure· 1

Frequent Co-Authors

Alessandro BrussinoiD· 1 shared Alfredo BruscoiD· 1 shared Anna Maria PorcelliiD· 1 shared Annarita MiluzioiD· 1 shared Brendan James BattersbyiD· 1 shared Cecilia ManciniiD· 1 shared Claudia Cagnoli· 1 shared Daniele De RitisiD· 1 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetics

Alessandro BrussinoORCID

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2 papers

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

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GeneticsNeurobiology of DiseasePeer-reviewedOct 30, 2018

Mice harboring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.

Cecilia Mancini, Eriola Hoxha, Luisa Iommarini…·Filippo Tempia

This study creates a new mouse model with a patient-derived SCA28 mutation and shows it leads to late-onset ataxia and mitochondrial dysfunction.

32 citations

mouseexperimental assay

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