Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]
, 2001 Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Clements JA +29 more
core +1 more source
Biomarkers for Drug Development in Propionic and Methylmalonic Acidemias [PDF]
, 2022 There is an unmet need for the development and validation of biomarkers and surrogate endpoints for clinical trials in propionic acidemia (PA) and methylmalonic acidemia (MMA).
Jurecka, Agnieszka +3 more
core +1 more source
Inborn Errors of Sulfur-Containing Amino Acid Metabolism [PDF]
The Journal of Nutrition, 2006 Two superimposed metabolic sequences, transsulfuration and the methionine/homocysteine cycle, form the pathway for methionine metabolism in mammalian liver. This combined pathway was formulated first to explain observations in subjects with homocystinuria caused by cystathionine synthase deficiency.
openaire +3 more sources
Stability of the genetic code and optimal parameters of amino acids [PDF]
Journal of Theoretical Biology V. 269, Pp. 57-63, 2011, 2012 The standard genetic code is known to be much more efficient in minimizing adverse effects of misreading errors and one-point mutations in comparison with a random code having the same structure, i.e. the same number of codons coding for each particular amino acid.
arxiv +1 more source
Amino Acids Profiling for the Diagnosis of Metabolic Disorders [PDF]
, 2019 Inborn errors of metabolism (IEM) represent a group of inherited diseases in which genetic defect leads to the block on a metabolic pathway, resulting in a single enzyme dysfunction.
Sandlers, Yana
core +2 more sources
Branched chain amino acids, an ''essential'' link between diet, clock and sleep? [PDF]
arXiv, 2022 The branched-chain amino acids: leucine, isoleucine and valine occupy a special place among the essential amino acids because of their importance not only in the structure of proteins but also in general and cerebral metabolism. Among the first amino acids absorbed after food intake, they play a major role in the regulation of protein synthesis and ...
arxiv
Metabolomic Studies in Inborn Errors of Metabolism: Last Years and Future Perspectives [PDF]
, 2023 The inborn errors of metabolism (IEMs or Inherited Metabolic Disorders) are a heterogeneous group of diseases caused by a deficit of some specific metabolic pathways.
Cossu, Marcello +6 more
core +2 more sources
A model for the emergence of the genetic code as a transition in a noisy information channel [PDF]
Journal of Theoretical Biology Volume 249, Issue 2, 21 November
2007, Pages 331-342, 2010 The genetic code maps the sixty-four nucleotide triplets (codons) to twenty amino-acids. Some argue that the specific form of the code with its twenty amino-acids might be a 'frozen accident' because of the overwhelming effects of any further change. Others see it as a consequence of primordial biochemical pathways and their evolution.
arxiv +1 more source
Gestational dating by metabolic profile at birth: a California cohort study. [PDF]
, 2016 BackgroundAccurate gestational dating is a critical component of obstetric and newborn care. In the absence of early ultrasound, many clinicians rely on less accurate measures, such as last menstrual period or symphysis-fundal height during pregnancy, or
Baer, Rebecca J +4 more
core +1 more source
Metabolic Regulatory Network Kinetic Modeling with Multiple Isotopic Tracers for iPSCs [PDF]
arXiv, 2023 The rapidly expanding market for regenerative medicines and cell therapies highlights the need to advance the understanding of cellular metabolisms and improve the prediction of cultivation production process for human induced pluripotent stem cells (iPSCs). In this paper, a metabolic kinetic model was developed to characterize underlying mechanisms of
arxiv