Ricerca

Curriculum vitae

Pubblicazioni scientifiche:




Renal phenotype in Bardet-Biedl syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion.
Zacchia M, Zacchia E, Zona E, Capolongo G, Raiola I, Rinaldi L, Trepiccione F, Ingrosso D, Perna A, Di Iorio V, Simonelli F, Moe OW, Capasso G.
Am J Physiol Renal Physiol. 2016 Oct 1;311(4):F686-F694. doi: 10.1152/ajprenal.00224.2016. Epub 2016 Aug 3.PMID: 27488999 
 
The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect.

Zacchia M, Di Iorio V, Trepiccione F, Caterino M, Capasso G.                                                                                                  
Kidney Dis (Basel). 2017 Jul;3(2):57-65. doi: 10.1159/000475500. Epub 2017 May 17.PMID: 28868293 
 
Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.

Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M.                                                                                                   
Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):9-19. doi: 10.1002/ajmg.c.31970. Epub 2022 Apr 4.PMID: 35373910 
 
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells.

Marchese E, Caterino M, Viggiano D, Cevenini A, Tolone S, Docimo L, Di Iorio V, Del Vecchio Blanco F, Fedele R, Simonelli F, Perna A, Nigro V, Capasso G, Ruoppolo M, Zacchia M.
 iScience. 2022 Sep 27;25(11):105230. doi: 10.1016/j.isci.2022.105230. eCollection 2022 Nov 18.PMID: 36281451
 
  
The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes.

Viggiano D, Zacchia M, Simonelli F, Di Iorio V, Anastasio P, Capasso G, De Santo NG.                                                                                                                                                                        https://giornaleitalianodinefrologia.it/2018/01/the-renal-lesions-bardet-biedl-syndrome-history-before-and-after-the-discovery-of-bbs-genes/

Diffusion tensor imaging for the study of early renal dysfunction in patients affected by bardet-biedl syndrome

Pasquale Borrelli , Miriam Zacchia , Carlo Cavaliere , Luca Basso , Marco Salvatore , Giovambattista Capasso, Marco Aiello 
https://pubmed.ncbi.nlm.nih.gov/34675323/
 
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.

Zacchia M, Blanco FDV, Torella A, Raucci R, Blasio G, Onore ME, Marchese E, Trepiccione F, Vitagliano C, Iorio VD, Alessandra P, Simonelli F, Nigro V, Capasso G, Viggiano D.
https://pubmed.ncbi.nlm.nih.gov/34084454/

Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10)

Neha Gupta, Mudassar Ali Khan, Giovambattista Capasso , Miriam Zacchia 
https://pubmed.ncbi.nlm.nih.gov/36312387/

Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome.

Caterino M, Zacchia M, Costanzo M, Bruno G, Arcaniolo D, Trepiccione F, Siciliano RA, Mazzeo MF, Ruoppolo M, Capasso G.
https://pubmed.ncbi.nlm.nih.gov/29539623/

 


 

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