Results 11 to 20 of about 6,583 (140)
RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease
Hepatology, EarlyView., 2022 RIPK3 dampens mitochondrial bioenergetics and lipid droplet dynamics in metabolic liver disease. Abstract Background and Aims Receptor‐interacting protein kinase 3 (RIPK3) mediates NAFLD progression, but its metabolic function is unclear. Here, we aimed to investigate the role of RIPK3 in modulating mitochondria function, coupled with lipid droplet (LD)
Marta B. Afonso +16 more
wiley +1 more source
Biotin deficiency in the rat as a model for reduced pyruvate carboxylase activity [PDF]
, 1978 The investigations described in this thesis are a contribution to the study of Leigh's disease (Subacute Necrotizing Encephalomyelopathy, SNE). SNE resembles in neuropathology Wernicke's encephalopathy, which is caused by thiamine deficiency.
Schrijver, Jacobus
core +3 more sources
Molecular basis and functional characterization of human 3-methylcrotonyl-CoA carboxylase deficiency [PDF]
, 2009 3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is a rare disorder of leucine catabolism inherited as an autosomal recessive trait. The phenotypic expression of the disease is highly variable, ranging from neonatal onset with severe neurological ...
Dantas, Maria Fernanda
core +1 more source
, 2022 BackgroundPyruvate carboxylase deficiency (PCD; MIM#266150) is a rare autosomal recessive disorder characterized by a wide range of clinical features, including delayed neurodevelopment, elevated pyruvate levels, lactic acidosis, elevated ketone levels ...
Minghua Zeng (2224402) +6 more
core +1 more source
, 2023 BackgroundPyruvate carboxylase (PC) is a key enzyme for gluconeogenesis. PC deficiency (PCD) is an extremely rare autosomal recessive metabolic disease and is divided into three types. Type B PCD is clinically featured by lactic acidosis, hyperammonemia,
Mei Xue (163742)
core +1 more source
The Burden of Carbohydrates in Health and Disease [PDF]
, 2022 Foods high in carbohydrates are an important part of a healthy diet, since they provide the body with glucose to support bodily functions and physical activity.
Mielgo Ayuso, Juan +17 more
core +1 more source
Precursor uptake assays and metabolic analyses in isolated tomato fruit chromoplasts [PDF]
, 2012 Background Carotenoids are the most widespread group of pigments found in nature. In addition to their role in the physiology of the plant, carotenoids also have nutritional relevance as their incorporation in the human diet provides health benefits.
Pateraki, Irini +25 more
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Peroxisome Proliferator-Activated Receptor Alpha Target Genes [PDF]
, 2010 The peroxisome proliferator-activated receptor alpha (PPARα) is a ligand-activated transcription factor involved in the regulation of a variety of processes, ranging from inflammation and immunity to nutrient metabolism and energy homeostasis.
Rakhshandehroo, M. +11 more
core +1 more source
Inhibition of Anaplerosis Attenuated Vascular Proliferation in Pulmonary Arterial Hypertension
, 2020 Vascular remodeling is considered a key event in the pathogenesis of pulmonary arterial hypertension (PAH). However, mechanisms of gaining the proliferative phenotype by pulmonary vascular cells are still unresolved.
Mathews Valuparampil Varghese +11 more
core +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source