A5067038598- Colorectal Cancer Treatments and Studies
- Lysosomal Storage Disorders Research
- Gastric Cancer Management and Outcomes
- Cancer Genomics and Diagnostics
- Cancer Treatment and Pharmacology
- Lung Cancer Treatments and Mutations
- Carbohydrate Chemistry and Synthesis
- Genetic factors in colorectal cancer
- Studies on Chitinases and Chitosanases
- Trypanosoma species research and implications
- Glycosylation and Glycoproteins Research
- Cellular transport and secretion
- Hepatocellular Carcinoma Treatment and Prognosis
- Colorectal and Anal Carcinomas
- Radiomics and Machine Learning in Medical Imaging
- Pancreatic and Hepatic Oncology Research
- Economic and Financial Impacts of Cancer
- Colorectal Cancer Surgical Treatments
- HER2/EGFR in Cancer Research
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Gastrointestinal Tumor Research and Treatment
- Cancer Diagnosis and Treatment
- Metastasis and carcinoma case studies
- Chronic Lymphocytic Leukemia Research
- Neuroendocrine Tumor Research Advances
Hospital General Universitario Gregorio Marañón
2015-2024
Instituto de Investigación Sanitaria Aragón
2011-2020
Centre for Biomedical Network Research on Rare Diseases
2008-2017
Spanish Foundation for Science and Technology
2008-2017
Universidad de Zaragoza
2000-2016
Centro de Investigación Biomédica en Red
2008-2016
Instituto de Investigación de Enfermedades Raras
2009-2016
Instituto de Salud Carlos III
2010-2015
Hospital Universitario Miguel Servet
2006-2015
Instituto Aragonés de Ciencias de la Salud
2005-2015
Treatment options are limited for patients with previously treated metastatic colorectal cancer (mCRC). In the LEAP-017 study, we evaluate whether lenvatinib in combination pembrolizumab improves outcomes compared standard of care (SOC) mismatch repair proficient or not microsatellite instability high (pMMR MSI-H) mCRC.
The membrane lipid glucosylceramide (GlcCer) is continuously formed and degraded. Cells express two GlcCer-degrading β-glucosidases, glucocerebrosidase (GBA) GBA2, located in outside the lysosome, respectively. Here we demonstrate that through transglucosylation both GBA GBA2 are able to catalyze vitro transfer of glucosyl-moieties from GlcCer cholesterol, vice versa. Furthermore, natural occurrence 1-O-cholesteryl-β-D-glucopyranoside (GlcChol) mouse tissues human plasma demonstrated using...
519 Background: Approximately 4% of metastatic colorectal cancers (mCRCs) are associated with high microsatellite instability (MSI-H), indicating a deficient DNA mismatch repair (dMMR) system. dMMR/MSI-H CRC exhibits an increased tumor neoantigen load and immune cell infiltration is hypothesized to be targetable by checkpoint inhibitors. CheckMate 142 (NCT02060188) evaluates the efficacy safety nivolumab (nivo) in patients (pts) mCRC. Methods: Pts mCRC who progressed on/were intolerant ≥1...
The RAISE phase III clinical trial demonstrated that ramucirumab + FOLFIRI improved overall survival (OS) [hazard ratio (HR) = 0.844, P 0.0219] and progression-free (PFS) (HR 0.793, < 0.0005) compared with placebo for second-line metastatic colorectal carcinoma (mCRC) patients previously treated first-line bevacizumab, oxaliplatin, a fluoropyrimidine. Since some patient or disease characteristics could be associated differential efficacy safety, prespecified subgroup analyses were...
Abstract Purpose: Duligotuzumab is a dual-action antibody directed against EGFR and HER3. Experimental Design: Metastatic colorectal cancer (mCRC) patients with KRAS ex2 wild-type received duligotuzumab or cetuximab FOLFIRI until progression intolerable toxicity. Mandatory tumor samples underwent mutation biomarker analysis. Efficacy analysis was conducted in RAS exon 2/3 tumors. Results: Of 134 randomly assigned patients, 98 had ex2/3 wild-type. provided no progression-free survival (PFS)...
Type 1 Gaucher disease (GD1) is characterised by lack of central nervous system involvement; however, there are several reports associated neurological manifestations. The aim this study was to systematically evaluate manifestations in 31 patients with GD1 (12 males and 19 females; mean age 39.4 (range 5–77) years). Participants underwent a complete examination cognitive tests. Investigation symptoms medication intake, motor sensory electroneurograms were obtained. 30.7% adult had deficits,...
There are few published data from real-world clinical experience with miglustat (Zavesca®), an oral inhibitor of glucosylceramide synthase, in type 1 Gaucher disease. We report a prospective, open-label investigational study that evaluated substrate reduction therapy 100 mg t.i.d. as maintenance patients Type disease who had been switched previous enzyme replacement therapy. Long-term on changes organ size, blood counts, severity bio-markers, bone marrow infiltration, overall status and...
Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by a deficiency of glucocerebrosidase. The neurologic manifestations GD patients have to date been refractory any treatment approach. We present report neuronopathic patient whose myoclonic epilepsy improved after combination therapy with imiglucerase and miglustat.In adult type 3 who, despite good visceral analytic response ERT, developed progressive deterioration marked dystonia, we added miglustat the...
Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It panethnic, but its presentation reveals ethnicity-specific characteristics. We evaluated distribution, and clinical genetic characteristics GD patients in Iberian Peninsula (IP). analysed geographical demographic, data, age at diagnosis, type, years therapy 436 from IP. The prevalence was 1/149,000 inhabitants; 88.3% were type 1, 6.7% 2, 5.0% 3. mean diagnosis 1 28.7 years. A total 72.7% classified as having mild...
Gaucher disease (GD) is a disorder of glycosphingolipid metabolism caused by deficiency lysosomal glucocerebrosidase (GlcCerase) activity, due to conformationally or functionally defective variants, resulting in progressive deposition glycosylceramide macrophages. The glucose analogue, N-butyldeoxynojirimycin (NB-DNJ, miglustat), an inhibitor the ceramide-specific glycosyltransferase, which catalyzes first step biosynthesis and currently approved for oral treatment type 1 GD. In previous...
Impaired function of NPC1 or NPC2 lysosomal proteins leads to the intracellular accumulation unesterified cholesterol, primary defect underlying Niemann-Pick type C (NPC) disease. In addition, glycosphingolipids (GSLs) accumulate in lysosomes as well. Intralysosomal lipid triggers activation a set genes, including potential biomarkers. Transcript levels Gpnmb have been shown be elevated various tissues an NPC mouse model. We speculated that could serve marker for visceral report expression...
The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of disease, several countries have screening programs. These actions promoted early diagnosis and avoided many complications in pediatric patients. In Spain ERT been available since 1993 386 patients included Spanish Registry Disease (SpRGD). aim this study is to analyze impact on characteristics at time initial To A review data SpRGD from patients' diagnosed before 18 years old was...
New human β-glucocerebrosidase (GCase) ligands with rigid 1,6-anhydro-β-L-idonojirimycin cores have been designed the aid of molecular modeling. Efficient pharmacological chaperones for L444P (trafficking-incompetent) mutant GCase enzyme associated type 2 and 3 Gaucher disease (GD) were identified.