Results 61 to 70 of about 2,978 (184)

Analysis of Interactions Between Pyomelanin and the Extracellular Matrix in an Ex Vivo Turkey Tendon Model

ChemistryOpen, Volume 14, Issue 6, June 2025.
Polymerization of homogentisic acid in the presence of extracellular matrix (ECM) components (an ex vivo turkey tendon model) yields simplified versions of biologically generated melanins in the ECM, facilitating studies of melanin–ECM interactions. A variety of techniques (X‐ray diffraction, microscopy, and spectroscopy) were employed to understand ...
Rebecca F. Shepherd, Hanaa A. Galeb, Jade Bentham, Reza Moshrefi, Katelyn Ryan, Nur Adeelah Che Ahmad Tantowi, Sara J. Baldock, Nathan R. Halcovitch, T. Jane Stockmann, John G. Hardy, Jemma G. Kerns, Adam M. Taylor   +11 more
wiley   +1 more source

An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone

Journal of Anatomy, Volume 246, Issue 6, Page 1053-1074, June 2025.
Examination of an alkaptonuria body highlights the susceptibility of all cartilage types and associated perichondrium to ochronotic pigmentation and the heterogeneity of ochronotic pigment distribution both within and between tissues. In joints, calcified cartilage pigments before non‐calcified cartilage.
Juliette H. Hughes, Gemma Charlesworth, Amanda Prior, Claire M. Tierney, Paul D. Rothwell, Neil P. Thomas, Lakshminarayan R. Ranganath, James A. Gallagher, Alistair P. Bond   +8 more
wiley   +1 more source

Nutritional interventions for patients with alkaptonuria: A minireview

Endocrine Regulations, 2023
Alkaptonuria (AKU, OMIM, No. 203500) is a rare, slow-progressing, irreversible, multisystemic disease resulting from a deficiency of the homogentisate 1,2-dioxygenase enzyme, which leads to the accumulation of homogentisic acid (HGA) and subsequent ...
Imrich Richard, Zatkova Andrea, Lukacova Olga, Sedlakova Jana, Zanova Elizabeth, Vlcek Miroslav, Penesova Adela, Radikova Zofia, Havranova Andrea, Ranganath Lakshminarayan   +9 more
doaj   +1 more source

Endogenous ochronosis with keratoelastoidosis marginalis

Indian Journal of Dermatopathology and Diagnostic Dermatology, 2019
Endogenous ochronosis is a manifestation of alkaptonuria, a rare metabolic disease due to homogentisic acid oxidase deficiency. Darkened urine and arthropathy are the other two components that complete the triad of alkaptonuria. Pigmentation of skin, the
R Mythreyi, Adikrishnan Swaminathan, Anuradha Priyadarshini, Sudha Rangarajan, S Murugan   +4 more
doaj   +1 more source

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Deep learning (DL) is increasingly used to analyze medical imaging, but is less refined for rare conditions, which require novel pre‐processing and analytical approaches. To assess DL in the context of rare diseases, this study focused on alkaptonuria (AKU), a rare disorder that affects the spine and involves other sequelae; treatments include
Kendall A. Flaharty, Vibha Chandrasekar, Irene J. Castillo, Dat Duong, Carlos R. Ferreira, Suzanna Ledgister Hanchard, Ping Hu, Rebekah L. Waikel, Francis Rossignol, Wendy J. Introne, Benjamin D. Solomon   +10 more
wiley   +1 more source

Alkaptonuria caused by compound heterozygote mutations [PDF]

, 2003
Alkaptonuria caused by compound heterozygote mutations: Alkaptonuria is a rare autosomal recessive disorder of inborn errors of metabolism. It is characterised by the deposition of much less than ochronotic pigment much greater than especially in ...

core  

T1 Hyperintense Disc in Alkaptonuria

, 2012
Study Design. Case report. Objective. To report a rare case of alkaptonuria presenting as a T1-hyperintense disc herniation. Summary of Background Data.
Wilson, Jon, Silbergleit, Richard, Krishnan, Anant, Sag, Alan A., Olson, Rick E.   +4 more
core   +1 more source

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

JIMD Reports, 2021
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,
Peter J. M. Wilson, Lakshminarayan R. Ranganath, George Bou‐Gharios, James A. Gallagher, Juliette H. Hughes   +4 more
doaj   +1 more source

Structural Dynamics of Neutral Amino Acid Transporter SLC6A19 in Simple and Complex Lipid Bilayers

Journal of Cellular Biochemistry, Volume 126, Issue 1, January 2025.
ABSTRACT B0AT1 (SLC6A19) is a major sodium‐coupled neutral amino acid transporter that relies on angiotensin converting enzyme 2 (ACE2) or collectrin for membrane trafficking. Despite its significant role in disorders associated with amino acid metabolism, there is a deficit of comprehensive structure‐function understanding of B0AT1 in lipid ...
Budheswar Dehury, Sarbani Mishra, Sunita Panda, Mahender Kumar Singh, Nischal L. Simha, Sanghamitra Pati   +5 more
wiley   +1 more source

An in vitro cell model for exploring inflammatory and amyloidogenic events in alkaptonuria

Journal of Cellular Physiology, Volume 239, Issue 12, December 2024.
Abstract Alkaptonuria (AKU) is a progressive systemic inherited metabolic disorder primarily affecting the osteoarticular system, characterized by the degeneration of cartilage induced by ochronosis, ultimately leading to early osteoarthritis (OA).
Pierfrancesco Mastroeni, Michela Geminiani, Tommaso Olmastroni, Luisa Frusciante, Alfonso Trezza, Anna Visibelli, Annalisa Santucci   +6 more
wiley   +1 more source