Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ... autophagy 17 (1), 1-382, 2021 | 13278* | 2021 |
PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central … I Matera, T Bachetti, F Puppo, M Di Duca, F Morandi, GM Casiraghi, ... Journal of medical genetics 41 (5), 373-380, 2004 | 317 | 2004 |
Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome T Bachetti, I Matera, S Borghini, MD Duca, R Ravazzolo, I Ceccherini Human molecular genetics 14 (13), 1815-1824, 2005 | 125 | 2005 |
Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS) T Bachetti, S Chiesa, P Castagnola, D Bani, E Di Zanni, A Omenetti, ... Annals of the rheumatic diseases 72 (6), 1044-1052, 2013 | 96 | 2013 |
Recent advances in the developmental origin of neuroblastoma: an overview M Ponzoni, T Bachetti, MV Corrias, C Brignole, F Pastorino, E Calarco, ... Journal of Experimental & Clinical Cancer Research 41 (1), 92, 2022 | 86 | 2022 |
PHOX2B-Mediated Regulation of ALK Expression: In Vitro Identification of a Functional Relationship between Two Genes Involved in Neuroblastoma T Bachetti, D Di Paolo, S Di Lascio, V Mirisola, C Brignole, M Bellotti, ... PloS one 5 (10), e13108, 2010 | 71 | 2010 |
PHOX2B mutations and genetic predisposition to neuroblastoma P Perri, T Bachetti, L Longo, I Matera, M Seri, GP Tonini, I Ceccherini Oncogene 24 (18), 3050-3053, 2005 | 67 | 2005 |
Parental origin and somatic mosaicism of PHOX2B mutations in congenital central hypoventilation syndrome S Parodi, T Bachetti, F Lantieri, MD Duca, G Santamaria, G Ottonello, ... Human mutation 29 (1), 206-206, 2008 | 61 | 2008 |
A common haplotype at the 5′ end of the RET proto‐oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression P Griseri, T Bachetti, F Puppo, F Lantieri, R Ravazzolo, M Devoto, ... Human mutation 25 (2), 189-195, 2005 | 55 | 2005 |
Causative and common PHOX2B variants define a broad phenotypic spectrum T Bachetti, I Ceccherini Clinical Genetics 97 (1), 103-113, 2020 | 50 | 2020 |
In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation T Bachetti, E Di Zanni, P Balbi, P Bocca, I Prigione, GA Deiana, A Rezzani, ... Experimental cell research 316 (13), 2152-2165, 2010 | 48 | 2010 |
The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells S Borghini, T Bachetti, M Fava, M Di Duca, F Cargnin, D Fornasari, ... Biochemical Journal 395 (2), 355-361, 2006 | 46 | 2006 |
Curcumin induces a fatal energetic impairment in tumor cells in vitro and in vivo by inhibiting ATP-synthase activity G Bianchi, S Ravera, C Traverso, A Amaro, F Piaggio, L Emionite, ... Carcinogenesis 39 (9), 1141-1150, 2018 | 45 | 2018 |
A common variant located in the 3′UTR of the RET gene is associated with protection from Hirschsprung disease P Griseri, F Lantieri, F Puppo, T Bachetti, M Di Duca, R Ravazzolo, ... Human mutation 28 (2), 168-176, 2007 | 43 | 2007 |
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions T Bachetti, P Bocca, S Borghini, I Matera, I Prigione, R Ravazzolo, ... The international journal of biochemistry & cell biology 39 (2), 327-339, 2007 | 43 | 2007 |
Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome T Bachetti, S Parodi, M Di Duca, G Santamaria, R Ravazzolo, I Ceccherini Journal of molecular medicine 89, 505-513, 2011 | 42 | 2011 |
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome S Di Lascio, R Benfante, E Di Zanni, S Cardani, A Adamo, D Fornasari, ... Human mutation 39 (2), 219-236, 2018 | 41 | 2018 |
Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases T Bachetti, I Ceccherini Journal of Molecular Medicine 92, 583-594, 2014 | 39 | 2014 |
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation … S Di Lascio, T Bachetti, E Saba, I Ceccherini, R Benfante, D Fornasari Neurobiology of disease 50, 187-200, 2013 | 39 | 2013 |
In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins E Di Zanni, T Bachetti, S Parodi, P Bocca, I Prigione, S Di Lascio, ... Neurobiology of disease 45 (1), 508-518, 2012 | 38 | 2012 |