J
Jesús Cruces
Researcher at Spanish National Research Council
Publications - 42
Citations - 2189
Jesús Cruces is an academic researcher from Spanish National Research Council. The author has contributed to research in topics: Gene & Walker–Warburg syndrome. The author has an hindex of 18, co-authored 42 publications receiving 2111 citations. Previous affiliations of Jesús Cruces include Autonomous University of Madrid.
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Journal ArticleDOI
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
Daniel Beltrán-Valero de Bernabé,Sophie Currier,Alice Steinbrecher,Jacopo Celli,Ellen van Beusekom,Bert van der Zwaag,Hülya Kayserili,Luciano Merlini,David Chitayat,William B. Dobyns,Bru Cormand,Ana Elina Lehesjoki,Jesús Cruces,Thomas Voit,Christopher A. Walsh,Hans van Bokhoven,Han G. Brunner +16 more
TL;DR: Immunohistochemical analysis of muscle from patients with POMT1 mutations corroborated the O-mannosylation defect, as judged by the absence of glycosylation of alpha-dystroglycan.
Journal ArticleDOI
Characterization of human PA2.26 antigen (T1α–2, podoplanin), a small membrane mucin induced in oral squamous cell carcinomas
Ester Martín-Villar,Francisco G. Scholl,Carlos Gamallo,María M. Yurrita,Mario F. Muñoz-Guerra,Jesús Cruces,Miguel Quintanilla +6 more
TL;DR: Double immunofluorescence and confocal microscopy analysis showed that PA2.26 colocalized with the membrane cytoskeleton linker ezrin at the surface of tumours and that its presence in vivo was associated with downregulation of membrane E‐cadherin protein expression.
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A Duplicated Gene in the Breakpoint Regions of the 7q11.23 Williams-Beuren Syndrome Deletion Encodes the Initiator Binding Protein TFII-I and BAP-135, a Phosphorylation Target of BTK
TL;DR: A duplicated region near the common deletion breakpoints of Williams-Beuren syndrome is characterized, which includes a transcribed gene that may predispose to unequal meiotic recombination between chromosome 7 homologs and/or to intrachromosomal rearrangements.
Journal ArticleDOI
Targeted disruption of the Walker-Warburg syndrome gene Pomt1 in mouse results in embryonic lethality.
Tobias Willer,Belén Prados,Juan M. Falcón-Pérez,Ingrid Renner-Müller,Gerhard K. H. Przemeck,Mark Lommel,Antonio Coloma,M. Carmen Valero,Martin Hrabé de Angelis,Widmar Tanner,Eckhard Wolf,Sabine Strahl,Jesús Cruces +12 more
TL;DR: The targeted disruption of mPomt1 represents an example of an engineered deletion of a known glycosyltransferase involved in O-mannosyl glycan synthesis in eukaryotes.
Journal ArticleDOI
O-mannosyl glycans: from yeast to novel associations with human disease.
TL;DR: Here, mutations in genes that are or might be involved in the glycosylation of alpha-dystroglycan have been identified and their association with neuromuscular diseases has focused the attention of different research areas on protein O-mannosylation.