Unexpected complexity in the molecular diagnosis of spastic paraplegia 11

Autor: Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta deCastro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)

Abstract Background Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic variants in the SPG11 gene (MIM *610844). Methods The proband is a 36‐year‐old

Externí odkaz: https://doaj.org/article/f8ae4d4c2eb84f83b89a1dd3212e22d2

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Autor: Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino

Publikováno v: The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)

Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesi

Externí odkaz: https://doaj.org/article/47a113198d5649e88315ddec99f2067f

Entrevista - Lluís Armengol

Autor: Sala, Joan

Publikováno v: Revista de Girona; Núm. 270; p. 20

La Sala Armengol, un negoci d'art familiar que havia estat un referent.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______613::5b7ef9ec28b7b5b29c59c6d2619c6a69
http://www.raco.cat/index.php/RevistaGirona/article/view/249228

MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

Autor: María I. Canut, Olaya Villa, Bachar Kudsieh, Heidi Mattlin, Isabel Banchs, Juan R. González, Lluís Armengol, Ricardo P. Casaroli-Marano

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)

Abstract Predicting the therapeutic response to ocular hypotensive drugs is crucial for the clinical treatment and management of glaucoma. Our aim was to identify a possible genetic contribution to the response to current pharmacological treatments o

Externí odkaz: https://doaj.org/article/003dc5dc60104e7fa3fe16b886eea31a

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing

Autor: Jordi Valls-Margarit, Iván Galván-Femenía, Daniel Matías-Sánchez, Natalia Blay, Montserrat Puiggròs, Anna Carreras, Cecilia Salvoro, Beatriz Cortés, Ramon Amela, Xavier Farre, Jon Lerga-Jaso, Marta Puig, Jose Francisco Sánchez-Herrero, Victor Moreno, Manuel Perucho, Lauro Sumoy, Lluís Armengol, Olivier Delaneau, Mario Cáceres, Rafael de Cid, David Torrents

Publikováno v: Nucleic Acids Research
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)

The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture of human diseases. However, genetic studies are mainly based on single nucleotide variants (SNVs) and small insertions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5ba8ea97c0da40374c640eb94b47c91
https://hdl.handle.net/2117/364556