Implementation of a Methodology for the Detection of Biochemical Markers in Type 1 Tyrosinemia
Foundation: hereditary tyrosinemia type I or hepato-renal tyrosinemia is an autosomal recessive disease caused by deficiency of the enzyme fumarylacetoacetate hydrolase. Due to its metabolic complexity, its confirmation requires a set of highly expensive
Iovana Fuentes Cortés +2 more
doaj
Pharmaceutical Crops: An Overview [PDF]
Pharmaceutical crops is an ambiguous term used by biologists and chemists for different categories of plants. We define pharmaceutical crops as those cultivated species that are used for extraction or preparation of therapeutic substances such as active ...
Antoun, Mikhail +5 more
core +1 more source
Perinatal Gene Transfer to the Liver [PDF]
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM +6 more
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BgIII RFLP for the human fumarylacetoacetate hydrolase (FAH) gene [PDF]
Sylvie I. Demers, Robert M. Tanguay
openaire +3 more sources
The tyrosine degradation pathway maintains amino acid homeostasis in plants, yet its function in tea (Camellia sinensis) remains unclear. Here, we identified CsSSCD1, encoding fumarylacetoacetate hydrolase (FAH), as a key enzyme linking tyrosine ...
Dayu Huang +6 more
doaj +1 more source
Point mutations in the Murine Fah gene : animal models for the human genetic disorder hereditary tyrosinemia type 1 [PDF]
Hereditary tyrosinemia type 1 (HT1) is a severe autosomal recessive metabolic disease, associated with point mutations in the human fumarylacetoacetate hydrolase (FAH) gene that cause disruption of tyrosine catabolism.
Aponte, Jennifer Lynn
core +1 more source
Nurr1 protein is required for N-Methyl-d-aspartic Acid (NMDA) receptor-mediated neuronal survival [PDF]
NMDA receptor (NMDAR) stimulation promotes neuronal survival during brain development. Cerebellar granule cells (CGCs) need NMDAR stimulation to survive and develop.
Badiola Benito, Nahuai +6 more
core +2 more sources
A New Bioactive Compound From the Marine Sponge-Derived Streptomyces sp. SBT348 Inhibits Staphylococcal Growth and Biofilm Formation [PDF]
Staphylococcus epidermidis, the common inhabitant of human skin and mucosal surfaces has emerged as an important pathogen in patients carrying surgical implants and medical devices.
Abdelmohsen, Usama R. +8 more
core +3 more sources
Fluorescent nanoparticles for sensing
Nanoparticle-based fluorescent sensors have emerged as a competitive alternative to small molecule sensors, due to their excellent fluorescence-based sensing capabilities.
Acosta +183 more
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Comparative genomics of Salmonella enterica serovars Derby and Mbandaka, two prevalent serovars associated with different livestock species in the UK [PDF]
Background Despite the frequent isolation of Salmonella enterica sub. enterica serovars Derby and Mbandaka from livestock in the UK and USA little is known about the biological processes maintaining their prevalence. Statistics for Salmonella isolations
Hayward, Matthew R +2 more
core +1 more source

