| The large phenotypic spectrum of fabry disease requires graduated diagnosis and personalized therapy: A meta-analysis can help to differentiate missense mutations V Citro, M Cammisa, L Liguori, C Cimmaruta, J Lukas, MV Cubellis, ... International Journal of Molecular Sciences 17 (12), 2010, 2016 | 38 | 2016 |
| 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, 2018 | 36 | 2018 |
| Identification of an allosteric binding site on human lysosomal alpha-galactosidase opens the way to new pharmacological chaperones for Fabry disease V Citro, J Peña-García, H den-Haan, H Pérez-Sánchez, R Del Prete, ... PLoS One 11 (10), e0165463, 2016 | 33 | 2016 |
| Assessment of gene variant amenability for pharmacological chaperone therapy with 1-deoxygalactonojirimycin in Fabry disease J Lukas, C Cimmaruta, L Liguori, S Pantoom, K Iwanov, J Petters, C Hund, ... International Journal of Molecular Sciences 21 (3), 956, 2020 | 21 | 2020 |
| Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease S Seemann, M Ernst, C Cimmaruta, S Struckmann, C Cozma, D Koczan, ... Biochemical Journal 477 (2), 359-380, 2020 | 18 | 2020 |
| A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG V Citro, C Cimmaruta, L Liguori, G Viscido, MV Cubellis, G Andreotti PLoS One 12 (12), e0189629, 2017 | 14 | 2017 |
| Enzyme replacement therapy for FABRY disease: possible strategies to improve its efficacy I Iacobucci, B Hay Mele, F Cozzolino, V Monaco, C Cimmaruta, M Monti, ... International Journal of Molecular Sciences 24 (5), 4548, 2023 | 8 | 2023 |
| Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase C Cimmaruta, V Citro, G Andreotti, L Liguori, MV Cubellis, B Hay Mele BMC bioinformatics 19, 39-46, 2018 | 8 | 2018 |
| Generation of the Niemann–Pick type C2 patient-derived iPSC line AKOSi001-A C Völkner, F Peter, M Liedtke, S Krohn, I Lindner, HM Escobar, ... Stem cell research 41, 101606, 2019 | 7 | 2019 |
| E-learning for rare diseases: An example using Fabry disease C Cimmaruta, L Liguori, M Monticelli, G Andreotti, V Citro International Journal of Molecular Sciences 18 (10), 2049, 2017 | 7 | 2017 |
| Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease J Petters, C Cimmaruta, K Iwanov, ML Chang, C Völkner, G Knuebel, ... Stem Cell Research 43, 101708, 2020 | 3 | 2020 |
| Ambroxol and bromhexine derivatives as pharmacological chaperones for mutant glucocerebrosidase J Lukas, S Seemann, M Sharif, C Zheng, C Cimmaruta, H Braunstein, ... Molecular Genetics and Metabolism 1 (120), S87, 2017 | 1 | 2017 |
| Investigation of ERAD components in GAL A processing and therapeutic targeting of ERAD/proteostasis in Fabry disease J Lukas, S Seemann, AM Knospe, C Cimmaruta, MV Cubellis, A Rolfs Molecular Genetics and Metabolism 2 (123), S89-S90, 2018 | | 2018 |
