ArticleJournal of inherited metabolic disease2015
Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria.
Article in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 29 citations in OpenAlex.
- Alkaptonuria.Nature reviews. Disease primers · 2024Review
- Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria.Metabolites · 2022Article
- Article
- Towards a Precision Medicine Approach Based on Machine Learning for Tailoring Medical Treatment in Alkaptonuria.International journal of molecular sciences · 2021Article
- Metabolomic and Lipidomic Biomarkers for Premalignant Liver Disease Diagnosis and Therapy.Metabolites · 2020Review
- Alkaptonuria: Current Perspectives.The application of clinical genetics · 2020Review
- Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.Human molecular genetics · 2019Article
- Reduced primary cilia length and altered Arl13b expression are associated with deregulated chondrocyte Hedgehog signaling in alkaptonuria.Journal of cellular physiology · 2017Article
- Amyloidosis in alkaptonuria.Journal of inherited metabolic disease · 2015Review
- Progress in Alkaptonuria--are we near to an effective therapy?Journal of inherited metabolic disease · 2015Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Alkaptonuria is an ultra-rare autosomal recessive disease developed from the lack of homogentisate 1,2-dioxygenase (HGD) activity, causing an accumulation in connective tissues of homogentisic acid (HGA) and its oxidized derivatives in polymerized form. The deposition of ochronotic pigment has been so far attributed to homogentisic acid produced by the liver, circulating in the blood, and accumulating locally. In the present paper, we report the expression of HGD in the brain. Mouse and human brain tissues were positively tested for HGD gene expression by western blotting. Furthermore, HGD expression was confirmed in human neuronal cells that also revealed the presence of six HGD molecular species. Moreover, once cultured in HGA excess, human neuronal cells produced ochronotic pigment and amyloid. Our findings indicate that alkaptonuric brain cells produce the ochronotic pigment in loco and this may contribute to induction of neurological complications.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.