Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency [PDF]
, 2010 Objective: Patients with congenital adrenal hyperplasia due to P450 oxidoreductase (POR) deficiency(ORD) present with disordered sex development and glucocorticoid deficiency.
Arlt +25 more
core +2 more sources
The IFNγ‐CIITA‐MHC II axis modulates melanoma cell susceptibility to NK‐cell‐mediated cytotoxicity
Molecular Oncology, EarlyView.Natural killer (NK) cells play a central role in anti‐melanoma immunity. However, melanoma cells adapt during co‐culture by upregulating CIITA and MHC II in response to interferon gamma (IFNγ), thereby evading NK‐cell lysis. Blocking IFNγ signaling or treatment with dimethyl fumarate/simvastatin counteracts this immune escape and maintains NK‐cell ...
Lena C. M. Krause +6 more
wiley +1 more source
Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]
, 2017 Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María +5 more
core
Molecular Oncology, EarlyView.Urinary LGALS3BP is elevated in bladder cancer patients compared to healthy controls as detected by the 1959 antibody–based ELISA. The antibody shows enhanced reactivity to the high‐mannose glycosylated variant secreted by cancer cells treated with kifunensine (KIF).
Asia Pece +18 more
wiley +1 more source
Update on role of agalsidase alfa in management of Fabry disease
Drug Design, Development and Therapy, 2011 Uma RamaswamiPaediatric Metabolic Unit, Cambridge University Hospitals, Cambridge, UKAbstract: Fabry disease (FD) is an X-linked lysosomal storage disorder that affects both men and women.
Uma Ramaswami
doaj
Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H. [PDF]
, 2016 Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs).
Dickson, Patricia I +6 more
core +1 more source
Survivin and Aurora Kinase A control cell fate decisions during mitosis
Molecular Oncology, EarlyView.Aurora A interacts with survivin during mitosis and regulates its centromeric role. Loss of Aurora A activity mislocalises survivin, the CPC and BubR1, leading to disruption of the spindle checkpoint and triggering premature mitotic exit, which we refer to as ‘mitotic slippage’.
Hana Abdelkabir +2 more
wiley +1 more source
Late-onset Pompe disease: preliminary results of enzyme replacement therapy
Нервно-мышечные болезни, 2019 Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of GAA ...
L. P. Smertina +4 more
doaj +1 more source
Ileocecal appendix involvement in fabry disease mimicking an acute abdomen [PDF]
, 2014 Anderson-Fabry disease (AFD) is a rare, X-linked, lysosomal storage disorder due to a deficiency of alphagalactosidase A. The direct consequence is a lipid storage with the accumulation of glycosphingolipids throughout the body.
Cristi E +5 more
core +1 more source
A guide to reactive oxygen species in tumour hypoxia: measurement and therapeutic implications
Molecular Oncology, EarlyView.Hypoxia reshapes tumour redox landscapes by altering compartmental ROS production (mitochondria, NOX, ER, peroxisomes). Accurate interpretation requires oxygen‐contextualised measurement (live biosensors, chemical probes, EPR, LC–MS) and awareness of artefacts (reoxygenation, probe specificity).
Lina Hacker +3 more
wiley +1 more source