{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["24"],"submitter":["Keenan CM"],"pubmed_abstract":["Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder resulting from a deficiency of homogentisate 1,2 dioxygenase (HGD), an enzyme involved in the catabolism of phenylalanine and tyrosine. Loss of HGD function prevents metabolism of homogentisic acid (HGA), leading to increased levels of plasma HGA and urinary excretion. Excess HGA becomes deposited in collagenous tissues and subsequently undergoes polymerisation, principally in the cartilages of loaded joints, in a process known as ochronosis. This results in an early-onset, devastating osteoarthropathy for which there is currently no effective treatment. We recently described the natural history of ochronosis in a murine model of AKU, demonstrating that deposition of ochronotic pigment begins very early in life and accumulates"],"journal":["JIMD reports"],"pagination":["45-50"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4582025"],"repository":["biostudies-literature"],"pubmed_title":["Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice."],"pmcid":["PMC4582025"],"pubmed_authors":["Cox TF","Sutherland H","Psarelli EE","Gallagher JA","Preston AJ","Wilson PJ","Ranganath LR","Jarvis JC","Keenan CM"],"additional_accession":[]},"is_claimable":false,"name":"Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice.","description":"Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder resulting from a deficiency of homogentisate 1,2 dioxygenase (HGD), an enzyme involved in the catabolism of phenylalanine and tyrosine. Loss of HGD function prevents metabolism of homogentisic acid (HGA), leading to increased levels of plasma HGA and urinary excretion. Excess HGA becomes deposited in collagenous tissues and subsequently undergoes polymerisation, principally in the cartilages of loaded joints, in a process known as ochronosis. This results in an early-onset, devastating osteoarthropathy for which there is currently no effective treatment. We recently described the natural history of ochronosis in a murine model of AKU, demonstrating that deposition of ochronotic pigment begins very early in life and accumulates","dates":{"release":"2015-01-01T00:00:00Z","publication":"2015","modification":"2025-04-22T21:21:28.027Z","creation":"2019-03-27T01:58:56Z"},"accession":"S-EPMC4582025","cross_references":{"pubmed":["25940034"],"doi":["10.1007/8904_2015_437"]}}