A5008420331- Bladder and Urothelial Cancer Treatments
- Trace Elements in Health
- Peptidase Inhibition and Analysis
- Heavy Metal Exposure and Toxicity
- Ubiquitin and proteasome pathways
- Cancer-related molecular mechanisms research
- Drug Transport and Resistance Mechanisms
- Epigenetics and DNA Methylation
- Sperm and Testicular Function
- Metabolism and Genetic Disorders
- Signaling Pathways in Disease
- Urinary and Genital Oncology Studies
- MicroRNA in disease regulation
- Iron Metabolism and Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Renal and related cancers
- Sexual Differentiation and Disorders
- Cancer Research and Treatments
- Genetic factors in colorectal cancer
- Renal cell carcinoma treatment
- Urologic and reproductive health conditions
- Antifungal resistance and susceptibility
- Prostate Cancer Treatment and Research
- Heat Transfer and Optimization
- Ferroptosis and cancer prognosis
Universidad de Navarra
2009-2022
Navarre Institute of Health Research
2015-2018
RWTH Aachen University
2018
Universitätsklinikum Aachen
2018
Universitat de Barcelona
2008-2013
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer
2011-2013
Hospital Universitari Sant Joan D'Alacant
2010
Hospital Clínic de Barcelona
2009
Protein N-terminal acetylation (Nt-acetylation) is an important mediator of protein function, stability, sorting, and localization. Although the responsible enzymes are thought to be fairly well characterized, lack identified in vivo substrates, occurrence Nt-acetylation substrates displaying yet uncharacterized acetyltransferase (NAT) specificities, emerging evidence posttranslational Nt-acetylation, necessitate use genetic models quantitative proteomics. NatB, which targets Met-Glu-,...
Current standard methods used to detect and monitor bladder urothelial cell carcinoma (UCC) are invasive or have low sensitivity. The incorporation into clinical practice of a non-invasive tool for UCC assessment would enormously improve patients' quality life outcome. This study aimed examine the microRNA (miRNA) expression profiles in urines patients order develop accurate reliable diagnose provide information on aggressiveness tumor. We performed global miRNA profiling analysis urinary...
The Y chromosome gr/gr microdeletion eliminates two copies of the DAZ gene and several additional transcriptional units has been associated as a risk factor for infertility. Our objective was to study presence deletion in ICSI candidates our population determine whether laboratory, clinical outcome were different deleted patients.Two hundred eighty-three studied. Semen analysis, serum FSH, LH, testosterone, inhibin B, karyotype detection sequence tagged sites performed.gr/gr deletions...
Gene therapy with an adeno‐associated vector (AAV) serotype 8 encoding the human ATPase copper‐transporting beta polypeptide (ATP7B) complementary DNA (cDNA; AAV8‐ATP7B) is able to provide long‐term copper metabolism correction in 6‐week‐old male Wilson disease (WD) mice. However, size of genome (5.2 kilobases [kb]) surpasses optimal packaging capacity vector, which resulted low‐yield production; addition, further analyses WD female mice and animals a more advanced revealed reduced...
It is known that targeting the protamine 1 gene in mice leads to infertility, abnormal chromatin packaging, and sperm morphology. Because many infertile patients also have an morphology human (PRM1) important candidate screen for potential mutations. In this work, we screened PRM1 search of mutations determined ratio between 2 (P1/P2 ratio). Direct sequencing promoter led identification a common single-nucleotide polymorphism (SNP; -190 C-->A). The AA genotype was detected at higher...
Wilson's disease (WD) is an inherited disorder of copper metabolism associated with mutations in ATP7B gene. We have shown that the administration adeno-associated vector (AAV) encoding a mini version human (VTX-801) provides long-term correction murine WD model. In preparation future clinical trial, we evaluated by positron emission tomography (PET) value 64Cu biodistribution, excretion pattern, and blood kinetics as pharmacodynamic biomarkers VTX-801 effects. Six-week-old mice were...
// Leire Neri 1 , Marta Lasa Alberto Elosegui-Artola 2 Delia D'Avola 3, 4 Beatriz Carte Cristina Gazquez Sara Alve 5 Pere Roca-Cusachs 2, 6 Mercedes Iñarrairaegui Jose Herrero Jesús Prieto 1, 3 Bruno Sangro and Rafael Aldabe Gene Therapy Regulation of Expression Program, Centro de Investigación Médica Aplicada, Universidad Navarra, Pamplona, Spain Institute for Bioengineering Catalonia, Barcelona, Liver Unit, Clínica Biomédica en Red el Área...
To assess gene-expression patterns of BIRC5, FGFR3, IGF2, KRT20, UPK2, EBF1, CDH1, FXYD3, HTERT, TP53, AGR2, HER2 and VEGF, widely known markers bladder urothelial carcinoma (UC) in upper tract UC, to determine their value as prognostic factors tumour progression cancer-specific survival.The study included 83 formalin-fixed paraffin-embedded tissue specimens (68 15 from patients with UTUC controls, respectively) collected between 1990 2004. Thirteen cancer-related genes were selected...
Study Type – Therapy (case series) Level of Evidence 4 What's known on the subject? and What does study add? Muscle invasive bladder cancer has a mortality rate at 5 years 50%, despite radical therapy, as result tumour progression dissemination. This suggests that half patients have disseminated disease time diagnosis, which is not detected by staging techniques currently used. The prognostic factors (histological grade stage) current do discriminate between those who will be cured with...
Wilson disease is a rare autosomal recessive condition caused by mutations in the copper-transporting ATPase ATP7B gene (OMIM: 606882) provoking loss of function and resulting variable hepatic neurologic symptoms. Currently, treatment focuses on achieving negative copper balance either with chelators (e.g., d-penicillamine, trientine, tetrathiomolybdate) or zinc, which reduces absorption, combination thereof.1 However, these lifelong regimens often cause side effects do not restore normal...
Human Nalpha-acetyltransferase complex B (hNatB) is integrated by hNaa20p (hNAT5/hNAT3) and hNaa25p (hMDM20) proteins. Previous data have shown that this enzymatic implicated in cell cycle progression carcinogenesis. In yeast enzyme acetylates peptides composed methionine aspartic acid or glutamic their first two positions respectively it has been the same specificity human cells.We silenced hNAA20 expression hepatic lines using recombinant adenoviruses express specific siRNAs against gene...
Wilson's disease (WD) is an autosomal recessively inherited copper storage disorder due to mutations in ATP7B gene that causes hepatic and neurologic symptoms. Current treatments are based on lifelong chelating drugs, which may cause side effects do not restore normal metabolism. We have recently demonstrated the administration of AAV vector expressing under control a liver specific promoter induces full restoration homeostasis mouse model disease. However, size genome surpasses optimal for...
Wilson disease (WD) is an autosomal recessively inherited copper storage disorder due to mutations in the ATP7B gene resulting impaired biliary excretion and hepatic accumulation. The increased concentration causes hepatocellular injury of variable intensity from acute liver failure chronic hepatitis evolving cirrhosis. Most often first manifestation which may be followed by deposition brain with neurological damage. Current treatments are based on chelators that promote urinary metal. These...