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ArticlesPeer ReviewedFull Text
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine
Author / Creator:Martinelli, Diego ; Häberle, Johannes ; Rubio, Vicente ; Giunta, Cecilia ; Hausser, Ingrid ; Carrozzo, Rosalba ; Gougeard, Nadine ; Marco-Marín, Clara ; Goffredo, Bianca M. ; Meschini, Maria Chiara ; Bevivino, Elsa ; Boenzi, Sara ; Colafati, Giovanna Stefania ; Brancati, Francesco ; Baumgartner, Matthias R. ; Dionisi-Vici, Carlo
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-09, Vol.35 (5), p.761-776
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The structural role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: The case of the spike A222V mutation
Author / Creator:Ginex, Tiziana ; Marco-Marín, Clara ; Wieczór, Miłosz ; Mata, Carlos P. ; Krieger, James ; Ruiz-Rodriguez, Paula ; López-Redondo, Maria Luisa ; Francés-Gómez, Clara ; Melero, Roberto ; Sánchez-Sorzano, Carlos Óscar ; Martínez, Marta ; Gougeard, Nadine ; Forcada-Nadal, Alicia ; Zamora-Caballero, Sara ; Gozalbo-Rovira, Roberto ; Sanz-Frasquet, Carla ; Arranz, Rocío ; Bravo, Jeronimo ; Rubio, Vicente ; Marina, Alberto ; Geller, Ron ; Comas, Iñaki ; Gil, Carmen ; Coscolla, Mireia ; Orozco, Modesto ; Llácer, José Luis ; Carazo, Jose-Maria
Publisher:United States: Public Library of Science
Journal title:PLoS pathogens, 2022-07, Vol.18 (7), p.e1010631
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ArticlesPeer ReviewedFull Text
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy
Author / Creator:Martínez-Rubio, Dolores ; Hinarejos, Isabel ; Argente-Escrig, Herminia ; Marco-Marín, Clara ; Lozano, María Ana ; Gorría-Redondo, Nerea ; Lupo, Vincenzo ; Martí-Carrera, Itxaso ; Miranda, Concepción ; Vázquez-López, María ; García-Pérez, Asunción ; Marco-Hernández, Ana Victoria ; Tomás-Vila, Miguel ; Aguilera-Albesa, Sergio ; Espinós, Carmen
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2023-11, Vol.24 (22), p.16400
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ArticlesPeer ReviewedFull Text
The crystal structure of the complex of P II and acetylglutamate kinase reveals how P II controls the storage of nitrogen as arginine
Author / Creator:Llácer, José L. ; Contreras, Asunción ; Forchhammer, Karl ; Marco-Marín, Clara ; Gil-Ortiz, Fernando ; Maldonado, Rafael ; Fita, Ignacio ; Rubio, Vicente
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2007-11, Vol.104 (45), p.17644-17649
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Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
Author / Creator:Martínez-Rubio, Dolores ; Hinarejos, Isabel ; Sancho, Paula ; Gorría-Redondo, Nerea ; Bernadó-Fonz, Raquel ; Tello, Cristina ; Marco-Marín, Clara ; Martí-Carrera, Itxaso ; Martínez-González, María Jesús ; García-Ribes, Ainhoa ; Baviera-Muñoz, Raquel ; Sastre-Bataller, Isabel ; Martínez-Torres, Irene ; Duat-Rodríguez, Anna ; Janeiro, Patrícia ; Moreno, Esther ; Pías-Peleteiro, Leticia ; Gordo, Mar O’Callaghan ; Ruiz-Gómez, Ángeles ; Muñoz, Esteban ; Martí, Maria Josep ; Sánchez-Monteagudo, Ana ; Fuster, Candela ; Andrés-Bordería, Amparo ; Pons, Roser Maria ; Jesús-Maestre, Silvia ; Mir, Pablo ; Lupo, Vincenzo ; Pérez-Dueñas, Belén ; Darling, Alejandra ; Aguilera-Albesa, Sergio ; Espinós, Carmen
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2022-10, Vol.23 (19), p.11847
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ArticlesPeer ReviewedFull Text
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation
Author / Creator:Sancho, Paula ; Sánchez-Monteagudo, Ana ; Collado, Antonio ; Marco-Marín, Clara ; Domínguez-González, Cristina ; Camacho, Ana ; Knecht, Erwin ; Espinós, Carmen ; Lupo, Vincenzo
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2017-12, Vol.18 (4), p.245-250
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ArticlesPeer ReviewedFull Text
Correction: The structural role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: The case of the spike A222V mutation
Author / Creator:Ginex, Tiziana ; Marco-Marín, Clara ; Wieczór, Miłosz ; Mata, Carlos P. ; Krieger, James ; Ruiz-Rodriguez, Paula ; López-Redondo, Maria Luisa ; Francés-Gómez, Clara ; Melero, Roberto ; Sánchez-Sorzano, Carlos Óscar ; Martínez, Marta ; Gougeard, Nadine ; Forcada-Nadal, Alicia ; Zamora-Caballero, Sara ; Gozalbo-Rovira, Roberto ; Sanz-Frasquet, Carla ; Arranz, Rocío ; Bravo, Jeronimo ; Rubio, Vicente ; Marina, Alberto ; Geller, Ron ; Comas, Iñaki ; Gil, Carmen ; Coscolla, Mireia ; Orozco, Modesto ; Llácer, José Luis ; Carazo, Jose-Maria
Publisher:United States: Public Library of Science
Journal title:PLoS pathogens, 2022-11, Vol.18 (11), p.e1010995-e1010995
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ArticlesPeer ReviewedFull Text
crystal structure of the complex of PII and acetylglutamate kinase reveals how PII controls the storage of nitrogen as arginine
Author / Creator:Llácer, José L ; Contreras, Asunción ; Forchhammer, Karl ; Marco-Marín, Clara ; Gil-Ortiz, Fernando ; Maldonado, Rafael ; Fita, Ignacio ; Rubio, Vicente
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2007-11, Vol.104 (45), p.17644-17649
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ArticlesPeer ReviewedFull Text
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9
Author / Creator:Magini, Pamela ; Marco‐Marin, Clara ; Escamilla‐Honrubia, Juan M. ; Martinelli, Diego ; Dionisi-Vici, Carlo ; Faravelli, Francesca ; Forzano, Francesca ; Seri, Marco ; Rubio, Vicente ; Panza, Emanuele
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-08, Vol.6 (8), p.1533-1540
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ArticlesPeer ReviewedFull Text
Synthetic heparan sulfate mimics based on chitosan derivatives show broad-spectrum antiviral activity
Author / Creator:Revuelta, Julia ; Rusu, Luciana ; Frances-Gomez, Clara ; Trapero, Elena ; Iglesias, Susana ; Pinilla, Eva Calvo ; Blázquez, Ana-Belén ; Gutiérrez-Adán, Alfonso ; Konuparamban, Acsah ; Moreno, Oscar ; Gómez Martínez, María ; Forcada-Nadal, Alicia ; López-Redondo, María Luisa ; Avilés-Alía, Ana Isabel ; Llácer, José Luis ; Llop, Jordi ; Martín Acebes, Miguel Ángel ; Geller, Ron ; Fernández-Mayoralas, Alfonso
Publisher:London: Nature Publishing Group UK
Journal title:Communications biology, 2025-03, Vol.8 (1), p.360-12, Article 360
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ArticlesPeer ReviewedFull Text
The crystal structure of the complex of P^sub II^ and acetylglutamate kinase reveals how P^sub II^ controls the storage of nitrogen as arginine
Author / Creator:Llácer, José L ; Contreras, Asunción ; chhammer, Karl ; Marco-Marín, Clara ; Gil-Ortiz, Fernando ; Maldonado, Rafael ; Fita, Ignacio ; Rubio, Vicente
Publisher:Washington: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2007-11, Vol.104 (45), p.17644
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ArticlesPeer ReviewedFull Text
The Crystal Structure of the Complex of${\rm P}_{{\rm II}}$and Acetylglutamate Kinase Reveals How${\rm P}_{{\rm II}}$Controls the Storage of Nitrogen as Arginine
Author / Creator:Llácer, José L. ; Contreras, Asunción ; Forchhammer, Karl ; Marco-Marín, Clara ; Gil-Ortiz, Fernando ; Maldonado, Rafael ; Fita, Ignacio ; Rubio, Vicente
Publisher:National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2007-11, Vol.104 (45), p.17644-17649
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ArticlesFull Text
The structural role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: the case of the spike A222V mutation
Author / Creator:Ginex, Tiziana ; Marco-Marín, Clara ; Wieczór, Miłosz ; Mata, Carlos P ; Krieger, James ; López-Redondo, Maria Luisa ; Francés-Gómez, Clara ; Ruiz-Rodriguez, Paula ; Melero, Roberto ; Sánchez-Sorzano, Carlos Óscar ; Martínez, Marta ; Gougeard, Nadine ; cada-Nadal, Alicia ; Zamora-Caballero, Sara ; Gozalbo-Rovira, Roberto ; Sanz-Frasquet, Carla ; Bravo, Jeronimo ; Rubio, Vicente ; Alberto, Marina ; The Ibv-Covid19-Pipeline ; Geller, Ron ; Comas, Iñaki ; Gil, Carmen ; Coscolla, Mireia ; Orozco, Modesto ; Llácer, José Luis ; José-Maria Carazo
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2022-02
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Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

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The structural role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: The case of the spike A222V mutation

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Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

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The crystal structure of the complex of P II and acetylglutamate kinase reveals how P II controls the storage of nitrogen as arginine

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Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias

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A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation

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Correction: The structural role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: The case of the spike A222V mutation

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crystal structure of the complex of PII and acetylglutamate kinase reveals how PII controls the storage of nitrogen as arginine

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P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

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Synthetic heparan sulfate mimics based on chitosan derivatives show broad-spectrum antiviral activity

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The crystal structure of the complex of P^sub II^ and acetylglutamate kinase reveals how P^sub II^ controls the storage of nitrogen as arginine

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The Crystal Structure of the Complex of${\rm P}_{{\rm II}}$and Acetylglutamate Kinase Reveals How${\rm P}_{{\rm II}}$Controls the Storage of Nitrogen as Arginine

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The structural role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: the case of the spike A222V mutation

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