Results 101 to 110 of about 2,729,552 (357)

Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics

ESC Heart Failure, EarlyView.
Systematic approach to dilated cardiomyopathy diagnosis. Dilated cardiomyopathy is a clinical diagnosis characterized by the presence of left ventricular dilatation and systolic disfunction unexplained by abnormal loading conditions or coronary artery disease.
Kristian Galanti, Ghaith Sharaf Dabbagh, Fabrizio Ricci, Sabina Gallina, Roberta Giansante, Ron Jacob, Edmond Obeng‐Gyimah, Leslie T. Cooper Jr, Sanjay K. Prasad, David H. Birnie, Andrew P. Landstrom, Selma F. Mohammed, Saidi Mohiddin, Mohammed Y. Khanji, Anwar A. Chahal   +14 more
wiley   +1 more source

Reprograming of proteasomal degradation by branched chain amino acid metabolism

Aging Cell, Volume 21, Issue 12, December 2022., 2022
Using genetics and multi‐omics analyses in Caenorhabditis elegans, we identified adaptive regulation of the ubiquitin‐proteasome system (UPS) in response to defective branched chain amino acid (BCAA) metabolism. Worms with impaired BCAA metabolism show slower turnover of a GFP‐based proteasome substrate, which is suppressed by loss‐of‐function of the ...
Sonia Ravanelli, Qiaochu Li, Andrea Annibal, Aleksandra Trifunovic, Adam Antebi, Thorsten Hoppe   +5 more
wiley   +1 more source

INBORN ERRORS OF METABOLISM

Nutrition Reviews, 2009
Abstract Understanding metabolic disease can be difficult in its own right. Under stressful situations such as those involving a sick infant, it becomes much more difficult. This resource is a talk whose purpose is to provide a simple framework with which to expeditiously diagnose a sick child who has a metabolic disorder.
openaire   +5 more sources

Dysmorphology of inborn errors of metabolism [PDF]

Molecular Cytogenetics, 2014
As we discover the molecular mechanism of disorders, eventually all dysmorphic syndromes will ultimately be considered biochemical defects. An overview on the recognition and classification of dysmorphic features will be provided. Categories of inborn errors of metabolism associated with dysmorphic manifestations will be discussed. For e.g.
openaire   +3 more sources

Substrate reduction therapy for inborn errors of metabolism

Emerging Topics in Life Sciences, 2019
Inborn errors of metabolism (IEM) represent a growing group of monogenic disorders each associated with inherited defects in a metabolic enzyme or regulatory protein, leading to biochemical abnormalities arising from a metabolic block.
W. Yue, S. Mackinnon, G. A. Bezerra
semanticscholar   +1 more source

Metformin has heterogeneous effects on model organism lifespans and is beneficial when started at an early age in Caenorhabditis elegans: A systematic review and meta‐analysis

Aging Cell, Volume 21, Issue 12, December 2022., 2022
Across studies, metformin seems to prolong lifespan in nematodes fed a specific bacterial diet but not in mice and may have a larger effect if started early in life. Abstract There is growing interest in the use of metformin to extend lifespan and prevent the onset of age‐related disorders in non‐diabetic individuals.
Austin J. Parish, William R. Swindell
wiley   +1 more source

The genetic basis of classical galactosaemia in Polish patients

Orphanet Journal of Rare Diseases, 2021
Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established
Aleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut-Cegielska   +5 more
doaj   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Cysteine restriction‐specific effects of sulfur amino acid restriction on lipid metabolism

Aging Cell, Volume 21, Issue 12, December 2022., 2022
The proposed mechanism of CR‐specific effects of SAAR on adipose metabolism. (1) Due to the lack of Cys in SAAR diets, it imposes both MR and CR. CR specifically results in decreased biosynthesis of the tripeptide glutathione. (2) Lower hepatic glutathione increases the abundance of the transcription factor Nrf2, which translocates to the nucleus and ...
Sailendra N. Nichenametla, Dwight A. L. Mattocks, Diana Cooke, Vishal Midya, Virginia L. Malloy, Wilfredo Mansilla, Bente Øvrebø, Cheryl Turner, Nasser E. Bastani, Jitka Sokolová, Markéta Pavlíková, John P. Richie Jr., Anna K. Shoveller, Helga Refsum, Thomas Olsen, Kathrine J. Vinknes, Viktor Kožich, Gene P. Ables   +17 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source