Publications by authors named "Sebastian Menao"

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Germline Mutation Analysis and Real-World Impact in a Selected Cohort of Patients with Non-Small Cell Lung Cancer: INHERITY LC Study.
María Zurera, Juan Carlos Laguna, Laura Mezquita, Oliver Higuera, Sebastián Menao

Clin Lung Cancer· November 2025

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Alpha-1 Antitrypsin Deficiency Screening Using Serum Protein Electrophoresis.
Juan José Perales-Afán, Sebastián Menao, Almudena García-Gutiérrez, Laura García-Zafra, Enrique Del Castillo-Díez

Respir Care· May 2025

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Association between missense variants of uncertain significance in the gene and hereditary breast cancer: a cosegregation and bioinformatics analysis.
Natalia Alonso, Sebastián Menao, Rodrigo Lastra, María Arruebo, María P Bueso

Front Genet· February 2024

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[Risk factors for cancer-related cognitive impairment in breast and colorectal cancer patients who undergo chemotherapy].
Patricia Iranzo, Ana Callejo, Julio Arbej, Sebastian Menao, Dolores Isla

An Sist Sanit Navar· August 2023

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Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson-Fabry's disease.
Susana Olivera, Cristina Iñiguez, Lorena García-Fernández, José-Luis Sierra, Ana-María Camón, Sebastián Menao

Mult Scler Relat Disord· February 2020

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Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting.
Carmen Lahuerta, Sebastián Menao, Anyuli Gracia-Gutierrez, Esperanza Bueno-Juana, Natalia Guillén

Int J Cardiol· February 2020

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Double heterozygous mutation in the BRCA1 and ATM genes involved in development of primary metachronous tumours: a case report.
Raquel Andrés, Sebastian Menao, María Arruebo, Elisa Quílez, Maria José Cardiel

Breast Cancer Res Treat· October 2019

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in Spanish Patients With Heart Failure.
Izarbe Merino-Casallo, Vicente Friaza, Sebastián Menao, José María Domingo, Susana Olivera

Front Public Health· October 2019

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Multiparametric analysis of anti-proliferative and apoptotic effects of gold nanoprisms on mouse and human primary and transformed cells, biodistribution and toxicity in vivo.
Marta Pérez-Hernández, María Moros, Grazyna Stepien, Pablo Del Pino, Sebastián Menao

Part Fibre Toxicol· October 2017

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Elucidating sources and roles of granzymes A and B during bacterial infection and sepsis.
Maykel A Arias, María P Jiménez de Bagües, Nacho Aguiló, Sebastián Menao, Sandra Hervás-Stubbs

Cell Rep· July 2014

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New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.
Mónica Ramos, Sebastián Menao, María Arnedo, Beatriz Puisac, María Concepción Gil-Rodríguez

Eur J Med Genet· August 2013

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Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.
María Arnedo, Sebastián Menao, Beatriz Puisac, María E Teresa-Rodrigo, María C Gil-Rodríguez

J Lipid Res· October 2012

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Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Beatriz Puisac, Mónica Ramos, María Arnedo, Sebastián Menao, María Concepción Gil-Rodríguez

Mol Biol Rep· April 2012

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Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Sebastián Menao, Eduardo López-Viñas, Cecilia Mir, Beatriz Puisac, Esther Gratacós

Hum Mutat· March 2009

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Molecular genetics of HMG-CoA lyase deficiency.
Juan Pié, Eduardo López-Viñas, Beatriz Puisac, Sebastián Menao, Angeles Pié

Mol Genet Metab· November 2007

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C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.
Patricia Carrasco, Sebastian Menao, Eduardo López-Viñas, Gabriel Santpere, Josep Clotet

Mol Genet Metab· June 2007

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Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.
Beatriz Puisac, Eduardo López-Viñas, Susana Moreno, Cecilia Mir, Celia Pérez-Cerdá, Sebastián Menao

Biophys Chem· April 2005

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Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
Núria Casals, Paulino Gómez-Puertas, Juan Pié, Cecilia Mir, Ramón Roca, Sebastián Menao

J Biol Chem· August 2003

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