Chiara Cimmaruta

Institut Pasteur - Paris / France

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AD Scientific Index ID: 4567935

Pastor Institute

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Chiara Cimmaruta's MOST POPULAR ARTICLES

1-) The large phenotypic spectrum of fabry disease requires graduated diagnosis and personalized therapy: A meta-analysis can help to differentiate missense mutationsV Citro, M Cammisa, L Liguori, C Cimmaruta, J Lukas, MV Cubellis, ...International Journal of Molecular Sciences 17 (12), 2010, 2016462016

2-) The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can …V Citro, C Cimmaruta, M Monticelli, G Riccio, B Hay Mele, MV Cubellis, ...International journal of molecular sciences 19 (8), 2218, 2018412018

3-) Identification of an allosteric binding site on human lysosomal alpha-galactosidase opens the way to new pharmacological chaperones for fabry diseaseV Citro, J Peña-García, H den-Haan, H Pérez-Sánchez, R Del Prete, ...PLoS One 11 (10), e0165463, 2016252016

4-) Assessment of gene variant amenability for pharmacological chaperone therapy with 1-deoxygalactonojirimycin in Fabry diseaseJ Lukas, C Cimmaruta, L Liguori, S Pantoom, K Iwanov, J Petters, C Hund, ...International Journal of Molecular Sciences 21 (3), 956, 2020262020

5-) Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry diseaseS Seemann, M Ernst, C Cimmaruta, S Struckmann, C Cozma, D Koczan, ...Biochemical Journal 477 (2), 359-380, 2020212020

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