Results 81 to 90 of about 1,800 (193)

Cell death resulted from loss of fumarylacetoacetate hydrolase in Arabidopsis is related to phytohormone jasmonate but not salicylic acid

Scientific Reports, 2020
Fumarylacetoacetate hydrolase (FAH) catalyzes the final step in Tyr degradation pathway essential to animals but not well understood in plants. Previously, we found that mutation of SSCD1 encoding Arabidopsis FAH causes cell death under short day, which ...
Zhou Zhou, Tiantian Zhi, Chengyun Han, Zhihong Peng, Ruozhong Wang, Jianhua Tong, Qi Zhu, Chunmei Ren   +7 more
doaj   +1 more source

Molecular insights into acetyl triethyl citrate (ATEC) induced toxic effect in HepG2 cells based on multi‐omics integrative analysis

eFood, Volume 5, Issue 6, December 2024.
Glycerophospholipid metabolism, arginine‐proline metabolism, TCA cycle and alanine‐aspartate‐glutamate metabolism were significantly dysregulated after ATEC exposure. Downregulated l‐glutamate and l‐glutamine which participate in TCA cycle, resulting in the collapse of energy production and cytotoxicity.
Bing Jie Ma, Lu Chen, Rui Weng, Jia Xi Liu, Xiao Qian Yin, Yu Shun Lu, Jing Qiu, Yong Zhong Qian, Yan Yang Xu   +8 more
wiley   +1 more source

Comparative analysis of gene and disease selection in genomic newborn screening studies

Journal of Inherited Metabolic Disease, Volume 47, Issue 5, Page 945-970, September 2024.
Abstract Genomic newborn screening (gNBS) is on the horizon given the decreasing costs of sequencing and the advanced understanding of the impact of genetic variants on health and diseases. Key to ongoing gNBS pilot studies is the selection of target diseases and associated genes to be included.
Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva Winkler, Nicola Dikow, Sven F. Garbade, Christian P. Schaaf, Heiko Brennenstuhl   +8 more
wiley   +1 more source

Clinical and para clinical findings in the children with tyrosinemia referring for liver transplantation

International Journal of Preventive Medicine, 2013
Background: Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase enzyme.
Seyed Mohsen Dehghani, Mahmood Haghighat, Mohammad Hadi Imanieh, Hossein Karamnejad, Abdorrasoul Malekpour   +4 more
doaj  

Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles

Molecular Genetics and Metabolism Reports, 2018
Background: A high level of succinylacetone (SA) in blood is a sensitive, specific marker for the screening and diagnosis of hepatorenal tyrosinemia (HT1, MIM 276700).
Hao Yang, Francis Rossignol, Denis Cyr, Rachel Laframboise, Shu Pei Wang, Jean-François Soucy, Marie-Thérèse Berthier, Yves Giguère, Paula J. Waters, Grant A. Mitchell   +9 more
doaj   +1 more source

Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family [PDF]

, 2012
Carrier of tyrosinemia type I was diagnosed by sequencing FAH (fumarylacetoacetate hydrolase) gene. It leads to the identification of heterozygous status for both c.648C>G (p.Ile216Met) and c.1159G>A (p.Gly387Arg) mutations in exons 8 and 13 ...
Ankleshwaria, Chitra M., Pawar, Rajeshwari, Sheth, Frenny J., Sheth, Jayesh J.   +3 more
core   +2 more sources

Successive Drug Therapy for a Very Rare Autosomal Diseases [PDF]

, 2019
It is very rare to find reports concerning a drug therapy successively treating chromosomal abnormalities. In this paper, we are reporting a successive use of nitisinone in treating a fatal and very rare autosomal disease called hereditary tyrosinemia ...
Al-Noaemi, Mohammed Chyad, Daghriri, Hassan Ali   +1 more
core   +2 more sources

Myeloperoxidase inhibition protects bone marrow mononuclear cells from DNA damage induced by the TOP2 poison anti‐cancer drug etoposide

FEBS Open Bio, Volume 14, Issue 6, Page 1001-1010, June 2024.
TOP2 poisons such as etoposide are widely employed anti‐cancer drugs, but their use is associated with DNA damage that can lead to therapy‐related acute leukaemia. Etoposide is activated by the myeloid‐specific enzyme myeloperoxidase (MPO) to more DNA damaging forms, and we show that MPO inhibition reduces etoposide‐induced DNA damage in bone marrow ...
Ian G. Cowell, Caroline A. Austin
wiley   +1 more source

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)

The Application of Clinical Genetics, 2017
Anibh Martin Das Department of Pediatrics, Hannover Medical School, Hannover, Germany Abstract: Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product ...
Das AM
doaj  

Targeted and untargeted metabolomics and lipidomics in dried blood microsampling: Recent applications and perspectives

Analytical Science Advances, Volume 5, Issue 5-6, June 2024.
Abstract Blood microsampling (BµS) offers an alternative to conventional methods that use plasma or serum for profiling human health, being minimally invasive and cost effective, especially beneficial for vulnerable populations. We present a non‐systematic review that offers a synopsis of the analytical methods, applications and perspectives related to
Pauline Couacault, Dennisse Avella, Sara Londoño‐Osorio, Ana S. Lorenzo, Ana Gradillas, Olli Kärkkäinen, Elizabeth Want, Michael Witting   +7 more
wiley   +1 more source