About
11
Publications
1,388
Reads
How we measure 'reads'
A 'read' is counted each time someone views a publication summary (such as the title, abstract, and list of authors), clicks on a figure, or views or downloads the full-text. Learn more
352
Citations
Introduction
I am a professor of human genetics at the International University of La Rioja, and I also supervise end-of-degree projects for M.Sc. Students. I hold a Ph.D. in Biomedicine and have more than ten years of experience in researching and diagnosing rare genetic diseases. I am the (co)-author of nine scientific publications in peer-reviewed journals (H-index 6, cited 171), and I am also a member of the European Society of Human Genetics (ESHG) and the Spanish Society of Human Genetics (AEGH)
Current institution
Additional affiliations
March 2020 - present
Position
- Professor
Description
- I am a professor of human genetics, research methodology, and scientific communication at the International University of La Rioja, and I also supervise end-of-degree projects for M.Sc. Students.
March 2017 - March 2018
Position
- PostDoc Position
Description
- New-therapies for conformational diseases: - Molecular characterization and identification of PMM2 folding mutations. - Screening of a library of compounds as potential therapies for conformational diseases.
February 2008 - September 2011
Position
- Laboratory Assistant
Description
- Biochemical analyses GC-MS, HPLC, MS-MS, enzymatic analyses, DNA sequencing
Education
September 2014 - February 2015
September 2011 - March 2017
Field of study
- Biochemistry, Molecular Biology, Biomedicine and Biotechnology
September 2010 - September 2011
Publications
Publications (11)
The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid glycan synthesis and attachment. They affect multiple organ/systems, but non‐specific symptoms render the diagnosis of the different CDG very challenging. Phosphomannomutase 2 (PMM2)‐CDG is the most common CDG, but advances in genetic analysis have shown othe...
Pathogenic mutations in DPAGT1 are manifested as two possible phenotypes: congenital disorder of glycosylation DPAGT1-CDG (also known as CDG-Ij), and limb-girdle congenital myasthenic syndrome (CMS) with tubular aggregates. UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosamine phosphotransferase (GPT), the protein encoded by DPAGT1, is an...
Genotype of PMM2 and DPM1 CDG patient-derived fibroblasts included in the UPR analysis.
(DOCX)
Objective:
To describe the clinical, biochemical, and genetic features of patients with congenital disorders of glycosylation (CDG) identified in Spain during the last 20 years.
Study design:
Patients were selected among those presenting with multisystem disease of unknown etiology. The isoforms of transferrin and of ApoC3 and dolichols were ana...
Purpose:
Glycogen storage disease (GSD) is an umbrella term for a group of genetic disorders that involve the abnormal metabolism of glycogen; to date, 23 types of GSD have been identified. The nonspecific clinical presentation of GSD and the lack of specific biomarkers mean that Sanger sequencing is now widely relied on for making a diagnosis. Ho...
Disorders of Golgi homeostasis form an emerging group of genetic defects. The highly heterogeneous clinical spectrum is not explained by our current understanding of the underlying cell-biological processes in the Golgi. Therefore, uncovering genetic defects and annotating gene function are challenging. Exome sequencing in a family with three sibli...
Deficiencies in glycosyltransferases, glycosidases or nucleotide-sugar transporters involved in protein glycosylation lead to Congenital Disorders of Glycosylation (CDG), a group of genetic diseases mostly showing multisystem phenotype. Despite recent advances in the biochemical and molecular knowledge of these diseases, no effective therapy exists...
Recent years have seen great advances in our knowledge of congenital disorders of glycosylation (CDG), a clinically and biochemically heterogeneous group of genetic diseases caused by defects in the synthesis (CDG-I) or processing (CDG-II) of glycans that form glycoconjugates. This paper reports a new subtype of non-neurological CDG involving the i...
Sepiapterin reductase (SR) catalyzes the final step in the de novo synthesis of tetrahydrobiopterin, essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases. SR deficiency is a very rare disease resulting in monoamine neurotransmitter depletion. Most patients present with clinical symptoms before the first year of age correspond...
