Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

555 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins.
Braconi D, Millucci L, Bernini A, Spiga O, Lupetti P, Marzocchi B, Niccolai N, Bernardini G, Santucci A. Braconi D, et al. Among authors: santucci a. Biochim Biophys Acta Gen Subj. 2017 Feb;1861(2):135-146. doi: 10.1016/j.bbagen.2016.11.026. Epub 2016 Nov 16. Biochim Biophys Acta Gen Subj. 2017. PMID: 27865997
ApreciseKUre: an approach of Precision Medicine in a Rare Disease.
Spiga O, Cicaloni V, Bernini A, Zatkova A, Santucci A. Spiga O, et al. Among authors: santucci a. BMC Med Inform Decis Mak. 2017 Apr 14;17(1):42. doi: 10.1186/s12911-017-0438-0. BMC Med Inform Decis Mak. 2017. PMID: 28410607 Free PMC article.
Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria.
Bernini A, Galderisi S, Spiga O, Bernardini G, Niccolai N, Manetti F, Santucci A. Bernini A, et al. Among authors: santucci a. Comput Biol Chem. 2017 Oct;70:133-141. doi: 10.1016/j.compbiolchem.2017.08.008. Epub 2017 Aug 25. Comput Biol Chem. 2017. PMID: 28869836
A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria.
Spiga O, Cicaloni V, Zatkova A, Millucci L, Bernardini G, Bernini A, Marzocchi B, Bianchini M, Zugarini A, Rossi A, Zazzeri M, Trezza A, Frediani B, Ranganath L, Braconi D, Santucci A. Spiga O, et al. Among authors: santucci a. Comput Biol Med. 2018 Dec 1;103:1-7. doi: 10.1016/j.compbiomed.2018.10.002. Epub 2018 Oct 5. Comput Biol Med. 2018. PMID: 30316064
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Ascher DB, Spiga O, Sekelska M, Pires DEV, Bernini A, Tiezzi M, Kralovicova J, Borovska I, Soltysova A, Olsson B, Galderisi S, Cicaloni V, Ranganath L, Santucci A, Zatkova A. Ascher DB, et al. Among authors: santucci a. Eur J Hum Genet. 2019 Jun;27(6):888-902. doi: 10.1038/s41431-019-0354-0. Epub 2019 Feb 8. Eur J Hum Genet. 2019. PMID: 30737480 Free PMC article. Clinical Trial.
Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease.
Cicaloni V, Spiga O, Dimitri GM, Maiocchi R, Millucci L, Giustarini D, Bernardini G, Bernini A, Marzocchi B, Braconi D, Santucci A. Cicaloni V, et al. Among authors: santucci a. FASEB J. 2019 Nov;33(11):12696-12703. doi: 10.1096/fj.201901529R. Epub 2019 Aug 28. FASEB J. 2019. PMID: 31462106 Free PMC article.
Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder (MIM 203500) that is caused byby a complex set of mutations in homogentisate 1,2-dioxygenasegene and consequent accumulation of homogentisic acid (HGA), causing a significant protein oxidation. ...M., M …
Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder (MIM 203500) that is caused byby a complex set of mutations in homoge …
555 results