Results 21 to 30 of about 148,305 (130)
, 2018 Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core +1 more source
Lesch-Nyhan syndrome: case brief of a rare disease [PDF]
, 2018 Lesch-Nyhan Syndrome is a rare X- linked disease due to absence of HPRT enzyme. It leads to hyperuricemia, gout, renal failure, neurological and behavioural disorders, including compulsive self-mutilation. Management includes drugs against hyperuricemia,
Agarwalla, Sunil Kumar +1 more
core +2 more sources
Hereditary disorders of pyrimidines and purine metabolism associated with intellectual disability [PDF]
, 2019 Actualizar al lector en los trastornos hereditarios del metabolismo de pirimidinas y las purinas relacionadas con discapacidad intelectual. Materiales y métodos: Se analizó la literatura disponible de los últimos 60 años en las bases de datos BBCS-LILACS,
Castro, Juan Carlos +2 more
core +2 more sources
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences [PDF]
, 2017 BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment ...
Alhaddad, B +20 more
core +4 more sources
Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels. [PDF]
, 2020 Saliva, as a biofluid, is inexpensive and non-invasive to obtain, and provides a vital tool to investigate oral health and its interaction with systemic health conditions.
Bowyer, Ruth CE +16 more
core +2 more sources
Advancing Precision Medicine: Recent Innovations in Gene Editing Technologies
Advanced Science, Volume 12, Issue 14, April 10, 2025.This review article delves into the cutting‐edge advancements in gene editing technology, with a particular focus on prime editor proteins and their engineered variants. The authors provide a thorough examination of recent developments that have addressed key challenges in the field, including improved precision, enhanced editing efficiency, and ...
Abhijith Koodamvetty +1 more
wiley +1 more source
Evolving Inborn Knowledge For Fast Adaptation in Dynamic POMDP Problems [PDF]
, 2020 Rapid online adaptation to changing tasks is an important problem in machine learning and, recently, a focus of meta-reinforcement learning. However, reinforcement learning (RL) algorithms struggle in POMDP environments because the state of the system, essential in a RL framework, is not always visible. Additionally, hand-designed meta-RL architectures
arxiv +1 more source
A quantitative screen for metabolic enzyme structures reveals patterns of assembly across the yeast metabolic network. [PDF]
, 2019 Despite the proliferation of proteins that can form filaments or phase-separated condensates, it remains unclear how this behavior is distributed over biological networks. We have found that 60 of the 440 yeast metabolic enzymes robustly form structures,
Begovich, Kyle +5 more
core +3 more sources
PLoS ONE, 2019 Background and aims Inborn errors of purine and pyrimidine metabolism are a diverse group of disorders with possible serious or life-threatening symptoms. They may be associated with neurological symptoms, renal stone disease or immunodeficiency. However,
P. Monostori +9 more
semanticscholar +1 more source
Association study of crude seed protein and fat concentration in a USDA pea diversity panel
The Plant Genome, Volume 18, Issue 1, March 2025.Abstract Pea (Pisum sativum L.) is a key rotational crop and is increasingly important in the food processing sector for its protein. This study focused on identifying diverse high seed protein concentration (SPC) lines in pea plant genetic resources.
Renan Uhdre +15 more
wiley +1 more source