Results 131 to 140 of about 167,642 (275)
Cell Proliferation, EarlyView.PDHA2, a testis‐specific subunit of pyruvate dehydrogenase, is required for the conversion of pyruvate to acetyl‐CoA. Its absence results in decreased acetyl‐CoA and precursors for metabolites and energy during spermatogenesis. This results in decreased histone acetylation, defective chromosome structure and moderately reduced crossovers, ultimately ...
Guoqiang Wang +9 more
wiley +1 more source
Metabolomic signature of type 1 diabetes-induced sensory loss and nerve damage in diabetic neuropathy [PDF]
arXiv, 2018 Diabetic-induced peripheral neuropathy (DPN) is a diabetic late complication. The molecular mechanisms underlying the pathophysiology of nerve damage & sensory loss remain largely unclear. Recently, alterations in metabolic flux have gained attention a basis for organ damage in diabetes; however, peripheral sensory neurons have not been adequately ...
arxiv
Inborn errors of metabolism (IEM): a general overview [PDF]
, 2011 This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of inborn errors of ...
Ritenuti, Michel
core
Multi‐Omics Reveal the Metabolic Changes in Cumulus Cells During Aging
Cell Proliferation, EarlyView.Fatty acid β‐oxidation was elevated in cumulus cells from older mice. Tryptophan metabolism in aged cumulus cells was active. Supplementing with 5‐HT could mitigate aging damage in oocytes. ABSTRACT Maternal age has been reported to impair oocyte quality.
Liangyue Shi +6 more
wiley +1 more source
Heliyon, 2021 Metachromatic leukodystrophy (MLD) is a human neurodegenerative disorder characterized by progressive damage on the myelin band in the nervous system. MLD is caused by the impaired function of the lysosomal enzyme Arylsulphatase A (ARSA).
Olga Y. Echeverri-Peña +6 more
doaj
Is Amino-Acid Homochirality Due To Asymmetric Photolysis In Space? [PDF]
arXiv, 1999 Amino acids occurring in proteins are, with rare exceptions, exclusively of the L-configuration. Among the many scenarios put forward to explain the origin of this chiral homogeneity (i.e., homochirality), one involves the asymmetric photolysis of amino acids present in space, triggered by circularly polarized UV radiation.
arxiv
Inborn errors of metabolism revealed by organic acid profile analysis in high risk Egyptian patients: Six years experience [PDF]
, 2009 Objective: To determine the prevalence and types of inborn errors of amino acid or organic acid metabolism in a group of high risk Egyptian children with clinical signs and symptoms suggestive of inherited metabolic diseases.
Boehles, H +3 more
core +1 more source
Evaluation of Body Composition and Nutritional Status in Patients with Inborn Errors of Metabolism [PDF]
, 2020 It is a descriptive observational study that includes patients coming from the Unit of Diagnosis and Treatment of Congenital Metabolic Diseases of the CHUS that go to the Consultation of Pediatric Nutrition.
Abdelaziz Salem Aldmour, Nisreen
core
Epilepsia, EarlyView.Abstract Objective A large proportion of pediatric epilepsies have an underlying genetic etiology. Limited studies have explored the efficacy of whole genome sequencing (WGS) in a clinical setting. Our academic–clinical center implemented clinical whole exome sequencing (WES) in 2014, then transitioned to WGS from 2015.
Olivia J. Henry +10 more
wiley +1 more source
Arteriovenous Blood Metabolomics: A Readout of Intra-Tissue Metabostasis. [PDF]
, 2015 The human circulatory system consists of arterial blood that delivers nutrients to tissues, and venous blood that removes the metabolic by-products. Although it is well established that arterial blood generally has higher concentrations of glucose and ...
Averell, Patricia M +12 more
core +2 more sources