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Tiziana Bachetti
Tiziana Bachetti
Proteomics and Mass Spectrometry, IRCCS San Martino
在 unige.it 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
3172004
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
1252005
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
962013
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
862022
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
712010
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
672005
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
612008
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
552005
Causative and common PHOX2B variants define a broad phenotypic spectrum
T Bachetti, I Ceccherini
Clinical Genetics 97 (1), 103-113, 2020
502020
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
482010
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
462006
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
452018
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
432007
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
432007
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
422011
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
412018
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
392014
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
392013
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
382012
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