Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation.
4‐hydroxyphenylpyruvate dioxygenase
LacZ reporter
alkaptonuria
homogentisate 1,2‐dioxygenase
tyrosinase
tyrosine hydroxylase
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
09
10
2020
revised:
29
10
2020
accepted:
02
11
2020
entrez:
17
3
2021
pubmed:
18
3
2021
medline:
18
3
2021
Statut:
epublish
Résumé
Alkaptonuria (AKU) is caused by homogentisate 1,2-dioxygenase (HGD) deficiency. This study aimed to determine if HGD and other enzymes related to tyrosine metabolism are associated with the location of ochronotic pigment. Liver, kidney, skin, bone, brain, eyes, spleen, intestine, lung, heart, cartilage, and muscle were harvested from 6 AKU BALB/c
Identifiants
pubmed: 33728247
doi: 10.1002/jmd2.12184
pii: JMD212184
pmc: PMC7932868
doi:
Types de publication
Journal Article
Langues
eng
Pagination
52-60Subventions
Organisme : Medical Research Council
ID : MR/P020941/1
Pays : United Kingdom
Informations de copyright
© 2020 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors declare that they have no conflict of interest.
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