Results 51 to 60 of about 12,683 (169)
Frontiers in Immunology, 2021 Mevalonic aciduria (MA) is the most severe clinical subtype of mevalonate kinase deficiency (MKD) caused by an inherited defect in the mevalonate pathway.
Hyery Kim +11 more
doaj +1 more source
The FEBS Journal, EarlyView.Some prenylated flavin mononucleotide (prFMN) synthases exceptionally prefer dimethylallyl phosphate (DMAP) over dimethylallyl diphosphate (DMAPP), which is a common prenyl donor substrate for many prenyltransferases. Structural and mutagenic analyses of Methanosarcina mazei prFMN synthase, which prefers DMAP but can also accept DMAPP, elucidated its ...
Sou Fukuhara +5 more
wiley +1 more source
Identification of Catalytic Residues in Human Mevalonate Kinase [PDF]
Journal of Biological Chemistry, 1997 cDNA encoding human mevalonate kinase has been overexpressed and the recombinant enzyme isolated. This stable enzyme is a dimer of 42-kDa subunits and exhibits a Vm = 37 units/mg, Km(ATP) = 74 microM, and Km(DL-MVA) = 24 microM. The sensitivity of enzyme to water-soluble carbodiimide modification of carboxyl groups prompted evaluation of four invariant
D, Potter, H M, Miziorko
openaire +2 more sources
When to consider an inborn error of immunity: clues for physicians
Internal Medicine Journal, EarlyView.Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley +1 more source
Tissue Resident Memory Cells: Friend or Foe?
Immunology, EarlyView.Tissue‐resident memory T cells (TRM cells) are specialised immune cells in barrier tissues like the lungs, skin and gut, providing rapid host defence and tumour surveillance. Their retention and differentiation are regulated by molecules such as CD69, CD103 and TGF‐β. Dysregulation of TRM cells can lead to chronic activation, driving conditions such as
Chidimma F. Chude +2 more
wiley +1 more source
Engineering Rhodosporidium toruloides for limonene production
Biotechnology for Biofuels, 2021 Background Limonene is a widely used monoterpene in the production of food, pharmaceuticals, biofuels, etc. The objective of this work was to engineer Rhodosporidium toruloides as a cell factory for the production of limonene.
Sasa Liu +7 more
doaj +1 more source
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Aim The aim of this project was to develop and implement a working definition and ethical framework for use of innovative medicine in contemporary Australian paediatric practice. Methods A mixed methods research methodology was undertaken using a Delphi process to establish a definition of innovative medicines in paediatric patients.
Sonya Stacey +5 more
wiley +1 more source
Hyperimmunoglobulin D Syndrome: Case Report
The Turkish Journal of Gastroenterology, 2015 Hyperimmunoglobulin D syndrome is a rare autosomal recessive inherited disease characterized by fever attacks, which may be accompanied by chills, headache, abdominal pain, and cervical lymphadenopathy.
Hacer ŞEN +6 more
doaj
Periodontal Medicine Rewired: Mechanisms Linking Periodontitis to Systemic Diseases
Journal of Periodontal Research, EarlyView.This review reorganizes decades of research in periodontal medicine into a multi‐dimensional framework, illustrating how periodontitis influences systemic health through at least seven interconnected mechanisms. ABSTRACT Periodontitis is now recognized not merely as a localized oral condition but as a systemic disease linked to over 70 communicable and
Mario Romandini +3 more
wiley +1 more source
Biomarker Research, 2018 Background Aggressive natural killer cell leukemia is a devastating disease, with an average patient survival time of less than 2 months following diagnosis.
Austin B. Henslee, Timothy A. Steele
doaj +1 more source