Results 61 to 70 of about 1,688 (193)
Molecular Therapy: Methods & Clinical Development, 2022 Hereditary tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by deficiency of fumarylacetoacetate hydrolase (FAH). Only limited treatment options (e.g., oral nitisinone) are available.
Maximiliano L. Cacicedo +11 more
doaj +1 more source
Genome editing for inborn errors of metabolism: advancing towards the clinic [PDF]
, 2017 Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative.
Bao, Gang +3 more
core +1 more source
Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria [PDF]
, 2022 Alkaptonuria (AKU) is an ultra-rare metabolic disease caused by the accumulation of homogentisic acid (HGA), an intermediate product of phenylalanine and tyrosine degradation.
Bernini A. +7 more
core +1 more source
Repurposing the orphan drug nitisinone to control the transmission of African trypanosomiasis [PDF]
PLOS Biology, 2020 Tsetse transmit African trypanosomiasis, which is a disease fatal to both humans and animals. A vaccine to protect against this disease does not exist so transmission control relies on eliminating tsetse populations. Although neurotoxic insecticides are the gold standard for insect control, they negatively impact the environment and reduce populations ...
Marcos Sterkel +17 more
openaire +8 more sources
Advanced Science, Volume 13, Issue 9, 13 February 2026.This study reveals that the tyrosine metabolic enzyme HPD functions as a previously uncharacterized, METTL3‐independent m6A methyltransferase. It promotes colorectal tumor progression by coordinately regulating the SLC7A11/GPX4 axis to suppress ferroptosis.
Jiyan Wang +17 more
wiley +1 more source
Data in Brief, 2018 Alkaptonuria is a rare genetic disorder characterized by a high level of circulating (and urine) homogentisic acid (HGA), which contributes to ochronosis when it is deposited in connective tissue as a pigmented polymer.
R. Griffin +26 more
doaj +1 more source
Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index
JIMD Reports, 2022 Alkaptonuria (AKU) is a rare genetic disorder where oxidised homogentisic acid accumulates in connective tissues, leading to multisystem disease. The clinical evaluation Alkaptonuria Severity Score Index (cAKUSSI) is a composite score that assesses the ...
Harriet E. O. Cant +7 more
doaj +1 more source
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria [PDF]
Molecular Genetics and Metabolism, 2011 Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to deficiency of the third enzyme in the catabolic pathway. As a result, homogentisic acid (HGA) accumulates and is excreted in gram quantities in the urine, which turns dark upon alkalization.
Wendy J, Introne +12 more
openaire +2 more sources
Cancer Medicine, 2022 Background Hepatocellular carcinoma (HCC) patient‐derived xenograft (PDX) models hold potential to advance knowledge in HCC biology to help improve systemic therapies. Beside hepatitis B virus‐associated tumors, HCC is poorly established in PDX.
Chenhui Zou +17 more
doaj +1 more source
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism [PDF]
Journal of Clinical Investigation, 2011 Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by hypopigmentation of the skin, hair, and eyes. Affected individuals experience reduced visual acuity and substantially increased skin cancer risk. There are four major types of OCA (OCA1-OCA4) that result from disruption in production of melanin from tyrosine.
Prashiela, Manga, Seth J, Orlow
openaire +2 more sources