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Results: 1 to 20 of 108

1.

Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria.

Laschi M, Tinti L, Braconi D, Millucci L, Ghezzi L, Amato L, Selvi E, Spreafico A, Bernardini G, Santucci A.

J Cell Physiol. 2012 Sep;227(9):3254-7. doi: 10.1002/jcp.24018.

PMID:
22105303
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Alkaptonuria is a novel human secondary amyloidogenic disease.

Millucci L, Spreafico A, Tinti L, Braconi D, Ghezzi L, Paccagnini E, Bernardini G, Amato L, Laschi M, Selvi E, Galeazzi M, Mannoni A, Benucci M, Lupetti P, Chellini F, Orlandini M, Santucci A.

Biochim Biophys Acta. 2012 Nov;1822(11):1682-91. doi: 10.1016/j.bbadis.2012.07.011. Epub 2012 Jul 28.

PMID:
22850426
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Alkaptonuria, ochronosis, and ochronotic arthropathy.

Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airó P, Cammelli D, Andreotti L, Marcolongo R, Porfirio B.

Semin Arthritis Rheum. 2004 Feb;33(4):239-48.

PMID:
14978662
[PubMed - indexed for MEDLINE]
4.

Alkaptonuria presenting with ochronotic spondyloarthropathy.

Al-Mahfoudh R, Clark S, Buxton N.

Br J Neurosurg. 2008 Dec;22(6):805-7. doi: 10.1080/02688690802226368. Review.

PMID:
19085367
[PubMed - indexed for MEDLINE]
5.

An update on molecular genetics of Alkaptonuria (AKU).

Zatkova A.

J Inherit Metab Dis. 2011 Dec;34(6):1127-36. doi: 10.1007/s10545-011-9363-z. Epub 2011 Jul 1.

PMID:
21720873
[PubMed - indexed for MEDLINE]
6.

Evaluation of antioxidant drugs for the treatment of ochronotic alkaptonuria in an in vitro human cell model.

Tinti L, Spreafico A, Braconi D, Millucci L, Bernardini G, Chellini F, Cavallo G, Selvi E, Galeazzi M, Marcolongo R, Gallagher JA, Santucci A.

J Cell Physiol. 2010 Oct;225(1):84-91. doi: 10.1002/jcp.22199.

PMID:
20648626
[PubMed - indexed for MEDLINE]
7.

Three-generational alkaptonuria in a non-consanguineous family.

Oexle K, Engel K, Tinschert S, Haas D, Lee-Kirsch MA.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S425-30. doi: 10.1007/s10545-008-0994-7. Epub 2008 Dec 22.

PMID:
19096913
[PubMed - indexed for MEDLINE]
8.

Biochemical and proteomic characterization of alkaptonuric chondrocytes.

Braconi D, Bernardini G, Bianchini C, Laschi M, Millucci L, Amato L, Tinti L, Serchi T, Chellini F, Spreafico A, Santucci A.

J Cell Physiol. 2012 Sep;227(9):3333-43. doi: 10.1002/jcp.24033.

PMID:
22213341
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Alkaptonuria: a very rare metabolic disorder.

Aquaron R.

Indian J Biochem Biophys. 2013 Oct;50(5):339-44. Review.

PMID:
24772955
[PubMed - indexed for MEDLINE]
10.

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O'Brien K, Kleta R, Huizing M, Gahl WA.

Hum Mutat. 2009 Dec;30(12):1611-9. doi: 10.1002/humu.21120.

PMID:
19862842
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Ochronosis in a murine model of alkaptonuria is synonymous to that in the human condition.

Taylor AM, Preston AJ, Paulk NK, Sutherland H, Keenan CM, Wilson PJ, Wlodarski B, Grompe M, Ranganath LR, Gallagher JA, Jarvis JC.

Osteoarthritis Cartilage. 2012 Aug;20(8):880-6. doi: 10.1016/j.joca.2012.04.013. Epub 2012 Apr 24.

PMID:
22542924
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The human gene for alkaptonuria (AKU) maps to chromosome 3q.

Janocha S, Wolz W, Srsen S, Srsnova K, Montagutelli X, Guénet JL, Grimm T, Kress W, Müller CR.

Genomics. 1994 Jan 1;19(1):5-8.

PMID:
8188241
[PubMed - indexed for MEDLINE]
13.

Redox proteomics gives insights into the role of oxidative stress in alkaptonuria.

Braconi D, Millucci L, Ghezzi L, Santucci A.

Expert Rev Proteomics. 2013 Dec;10(6):521-35. doi: 10.1586/14789450.2013.858020. Review.

PMID:
24206226
[PubMed - indexed for MEDLINE]
14.

Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone.

Preston AJ, Keenan CM, Sutherland H, Wilson PJ, Wlodarski B, Taylor AM, Williams DP, Ranganath LR, Gallagher JA, Jarvis JC.

Ann Rheum Dis. 2014 Jan;73(1):284-9. doi: 10.1136/annrheumdis-2012-202878. Epub 2013 Mar 19.

PMID:
23511227
[PubMed - indexed for MEDLINE]
15.

Ashy ears.

Rallis E, Kintzoglou S.

ScientificWorldJournal. 2010 Aug 3;10:1530-1. doi: 10.1100/tsw.2010.147.

PMID:
20694448
[PubMed - indexed for MEDLINE]
Free Article
16.

Natural history of alkaptonuria revisited: analyses based on scoring systems.

Ranganath LR, Cox TF.

J Inherit Metab Dis. 2011 Dec;34(6):1141-51. doi: 10.1007/s10545-011-9374-9. Epub 2011 Jul 12.

PMID:
21748407
[PubMed - indexed for MEDLINE]
17.

The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria.

Taylor AM, Boyde A, Wilson PJ, Jarvis JC, Davidson JS, Hunt JA, Ranganath LR, Gallagher JA.

Arthritis Rheum. 2011 Dec;63(12):3887-96. doi: 10.1002/art.30606.

PMID:
22127706
[PubMed - indexed for MEDLINE]
Free Article
18.

Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.

Ladjouze-Rezig A, Rodriguez de Cordoba S, Aquaron R.

Joint Bone Spine. 2006 May;73(3):284-92. Epub 2005 Jul 7.

PMID:
16085442
[PubMed - indexed for MEDLINE]
19.

Rapid detection methods for five HGO gene mutations causing alkaptonuria.

Zatkova A, Chmelikova A, Polakova H, Ferakova E, Kadasi L.

Clin Genet. 2003 Feb;63(2):145-9.

PMID:
12630963
[PubMed - indexed for MEDLINE]
20.

Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD).

Gucev ZS, Slaveska N, Laban N, Danilovski D, Tasic V, Pop-Jordanova N, Zatkova A.

Prilozi. 2011 Jul;32(1):305-11.

PMID:
21822197
[PubMed - in process]

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