Results 101 to 110 of about 250,934 (302)

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

open access: yesFEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon   +6 more
wiley   +1 more source

Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease

open access: yesBiologics: Targets & Therapy, 2008
Fernando C Fervenza1, Roser Torra2, David G Warnock31Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA; 2Department of Nephrology, Fundació Puigvert, Barcelona, Spain; 3Division of Nephrology ...
Fernando C Fervenza   +2 more
doaj  

Exocrine Pancreatic Insufficiency in Diabetes Mellitus: Incidence, Pathogenesis, Diagnosis and Treatment

open access: yesGastroenterologìa, 2015
The article deals with exocrine pancreatic insufficiency (EPI), which is being detected in a significant number (30–50 %) of patients with diabetes mellitus (DM) type I and II and could potentially affect the compensation of DM.
S.M. Tkach
doaj   +1 more source

Tumor‐stromal crosstalk and macrophage enrichment are associated with chemotherapy response in bladder cancer

open access: yesFEBS Open Bio, EarlyView.
Chemoresistance in bladder cancer: Macrophage recruitment associated with CXCL1, CXCL5 and CXCL8 expression is characteristic of Gemcitabine/Cisplatin (Gem/Cis) Non‐Responder tumors (right side) while Responder tumors did not show substantial tumor‐stromal crosstalk (left side). All biological icons are attributed to Bioicons: carcinoma, cancerous‐cell‐
Sophie Leypold   +11 more
wiley   +1 more source

Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease

open access: yesOrphanet Journal of Rare Diseases, 2017
Background Mucopolysaccharidosis type I (MPS I) is a debilitating hereditary disease characterized by alpha-L-iduronidase (IDUA) deficiency and consequent inability to degrade glycosaminoglycans.
Yu-Hone Hsu   +5 more
doaj   +1 more source

Dapagliflozin prevents methylglyoxal‐induced retinal cell death in ARPE‐19 cells

open access: yesFEBS Open Bio, EarlyView.
Diabetic macular oedema is a diabetes complication of the eye, which may lead to permanent blindness. ARPE‐19 are human retinal cells used to study retinal diseases and potential therapeutics. Methylglyoxal is a compound increased in uncontrolled diabetes due to elevated blood glucose.
Naina Trivedi   +7 more
wiley   +1 more source

EXPERIENCE OF IMPLEMENTING NEW TECHNOLOGY TREATMENT OF CHILDREN WITH MPS IN THE RUSSIAN PEDIATRIC PRACTICE

open access: yesПедиатрическая фармакология, 2011
The paper is devoted to one of the rare genetically determined diseases — mucopolysaccharidosis. Despite the great achievement of science — the development of the pathogenetic enzyme replacement therapy, many challenges remain.
A.A. Baranov   +7 more
doaj   +2 more sources

Dihydroorotate dehydrogenase (DHODH) regulates trophoblast syncytialization through organelle stress–induced cellular senescence

open access: yesFEBS Open Bio, EarlyView.
The inhibition of mitochondrial dihydroorotate dehydrogenase (DHODH) impairs syncytialization and induces cellular senescence via mitochondrial and endoplasmic reticulum stress in human trophoblast stem cells, elevating sFlt1/PlGF levels, a hallmark of placental dysfunction in hypertensive disorders of pregnancy.
Kanoko Yoshida   +6 more
wiley   +1 more source

Matrix metalloproteinase‐9 regulates cell adhesion and membrane protrusive activity of ovarian cancer cells

open access: yesFEBS Open Bio, EarlyView.
Matrix metalloproteinase‐9 (MMP9) drives ovarian cancer progression. Using MMP9‐null cells (M9‐KO) created from ovarian cancer cells, we found MMP9 loss did not block Epidermal Growth Factor (EGF)‐driven E‐cadherin dissolution or EMT but delayed and reduced EGF‐driven membrane protrusions. Transient MMP9 re‐expression drove membrane protrusion.
Claire Strauel   +8 more
wiley   +1 more source

A nonhuman primate model of inherited retinal disease. [PDF]

open access: yes, 2019
Inherited retinal degenerations are a common cause of untreatable blindness worldwide, with retinitis pigmentosa and cone dystrophy affecting approximately 1 in 3500 and 1 in 10,000 individuals, respectively.
Artemyev, Nikolai O   +21 more
core  

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