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Page 1 of 4

News from Valencia: JIMD themed issue on ureagenesis defects and allied disorders

Journal of Inherited Metabolic Disease
2024-11 | Journal article
Contributors: Vicente Rubio; Johannes Häberle
Source: check_circle
Crossref

Use of pure recombinant human enzymes to assess the disease‐causing potential of missense mutations in urea cycle disorders, applied to N‐acetylglutamate synthase deficiency

Journal of Inherited Metabolic Disease
2024-11 | Journal article
Contributors: Nadine Gougeard; Enea Sancho‐Vaello; M. Leonor Fernández‐Murga; Borja Martínez‐Sinisterra; Badr Loukili‐Hassani; Johannes Häberle; Clara Marco‐Marín; Vicente Rubio
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Crossref

Structures of the cyanobacterial nitrogen regulators NtcA and PipX complexed to DNA fully clarify DNA binding by NtcA and recruitment of RNA polymerase by PipX

2024-08-29 | Preprint
Contributors: Alicia Forcada-Nadal; Sirine Bibak; Paloma Salinas; Asunción Contreras; Vicente Rubio; José L. Llácer
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Crossref

Molecular and Serological Studies on Potential SARS-CoV-2 Infection among 43 Lemurs under Human Care—Evidence for Past Infection in at Least One Individual

Animals
2023-12 | Journal article | Author
Contributors: Beatriz del Pilar Musoles-Cuenca; Aguilo-Gisbert, J; teresa Lorenzo Bermejo; Rocio Canales; Beatriz Ballester Llobell; Umberto Romani-Cremaschi; Rosa Martinez-Valverde; elisa maiques; Diana Marteles Aragüés; Pablo Rueda et al.
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Multidisciplinary Digital Publishing Institute

Disorders of Ammonia Detoxification

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
2022 | Book chapter
Part of ISBN: 9783030677268
Part of ISBN: 9783030677275
Source: Self-asserted source
Vicente Rubio

The Conserved Family of the Pyridoxal Phosphate-Binding Protein (PLPBP) and Its Cyanobacterial Paradigm PipY

Life
2022-10-17 | Journal article
Contributors: Lorena Tremiño; Antonio Llop; Vicente Rubio; Asunción Contreras
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Crossref
grade
Preferred source (of 2)‎

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures

Journal of Inherited Metabolic Disease
2022-03 | Journal article
Contributors: Alvaro Briso‐Montiano; Francisco Del Caño‐Ochoa; Alicia Vilas; Adrián Velázquez‐Campoy; Vicente Rubio; Belén Pérez; Santiago Ramón‐Maiques
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Crossref

Discovery of 3H-pyrrolo[2,3-c]quinolines with activity against Mycobacterium tuberculosis by allosteric inhibition of the glutamate-5-kinase enzyme.

European journal of medicinal chemistry
2022-02-22 | Journal article
Source: Self-asserted source
Vicente Rubio

Identification of mitofusin 1 and complement component 1q subcomponent-binding protein as mitochondrial targets in systemic lupus erythematosus.

Arthritis & rheumatology (Hoboken, N.J.)
2022-02-06 | Journal article
Source: Self-asserted source
Vicente Rubio

Functional and structural characterization of PII‐like protein CutA does not support involvement in heavy metal tolerance and hints at a small‐molecule carrying/signaling role

The FEBS Journal
2021-02 | Journal article
Contributors: Khaled A. Selim; Lorena Tremiño; Clara Marco‐Marín; Vikram Alva; Javier Espinosa; Asunción Contreras; Marcus D. Hartmann; Karl Forchhammer; Vicente Rubio
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Crossref

Δ1‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder

Journal of Inherited Metabolic Disease
2020-07 | Journal article
Contributors: Clara Marco‐Marín; Juan M. Escamilla‐Honrubia; José L. Llácer; Marco Seri; Emanuele Panza; Vicente Rubio
Source: check_circle
Crossref

Structures of collagen IV globular domains: insight into associated pathologies, folding and network assembly. Corrigendum

IUCrJ
2020-07-01 | Journal article
Contributors: Patricia Casino; Roberto Gozalbo-Rovira; Jesús Rodríguez-Díaz; Surajit Banerjee; Ariel Boutaud; Vicente Rubio; Billy G. Hudson; Juan Saus; Javier Cervera; Alberto Marina
Source: check_circle
Crossref

Nitrogen storage regulation by PII protein: lessons learned from taxonomic outliers

The FEBS Journal
2020-02 | Journal article
Contributors: Vicente Rubio; Clara Marco‐Marín; José Luis Llácer
Source: check_circle
Crossref

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

Annals of Clinical and Translational Neurology
2019-08 | Journal article
Contributors: Pamela Magini; Clara Marco‐Marin; Juan M. Escamilla‐Honrubia; Diego Martinelli; Carlo Dionisi-Vici; Francesca Faravelli; Francesca Forzano; Marco Seri; Vicente Rubio; Emanuele Panza
Source: check_circle
Crossref

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

Journal of inherited metabolic disease
2019-05-15 | Journal article
Source: Self-asserted source
Vicente Rubio

N-carbamoylglutamate-responsive carbamoyl phosphate synthetase 1 (CPS1) deficiency: A patient with a novel CPS1 mutation and an experimental study on the mutation's effects.

JIMD reports
2019-05-02 | Journal article
Source: Self-asserted source
Vicente Rubio

The PII-NAGK-PipX-NtcA Regulatory Axis of Cyanobacteria: A Tale of Changing Partners, Allosteric Effectors and Non-covalent Interactions.

Frontiers in molecular biosciences
2018-11-13 | Journal article
Source: Self-asserted source
Vicente Rubio

Structures of collagen IV globular domains: insight into associated pathologies, folding and network assembly

IUCrJ
2018-11-01 | Journal article
Contributors: Patricia Casino; Roberto Gozalbo-Rovira; Jesús Rodríguez-Díaz; Sreedatta Banerjee; Ariel Boutaud; Vicente Rubio; Billy G. Hudson; Juan Saus; Javier Cervera; Alberto Marina
Source: check_circle
Crossref

Insight into vitamin B6 -dependent epilepsy due to PLPBP (previously PROSC ) missense mutations

Human Mutation
2018-07-16 | Journal article
Contributors: Lorena Tremiño; Alicia Forcada-Nadal; Vicente Rubio
Source: check_circle
Crossref

SPR analysis of promoter binding of Synechocystis PCC6803 transcription factors NtcA and CRP suggests cross-talk and sheds light on regulation by effector molecules.

FEBS letters
2018-06-29 | Journal article
Source: Self-asserted source
Vicente Rubio

Effects of T-loop modification on the PII-signalling protein: structure of uridylylated Escherichia coli GlnB bound to ATP

Environmental Microbiology Reports
2017 | Journal article
EID:

2-s2.0-85017478821

Contributors: Palanca, C.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Studies on cyanobacterial protein PipY shed light on structure, potential functions, and vitamin B6 -dependent epilepsy.

FEBS letters
2017-09-20 | Journal article
Source: Self-asserted source
Vicente Rubio

PipY, a Member of the Conserved COG0325 Family of PLP-Binding Proteins, Expands the Cyanobacterial Nitrogen Regulatory Network.

Frontiers in microbiology
2017-07-11 | Journal article
Source: Self-asserted source
Vicente Rubio

The PipX Protein, When Not Bound to Its Targets, Has Its Signaling C-Terminal Helix in a Flexed Conformation.

Biochemistry
2017-06-14 | Journal article
Source: Self-asserted source
Vicente Rubio

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Brain : a journal of neurology
2016 | Journal article
EID:

2-s2.0-84973408112

Contributors: Panza, E.; Escamilla-Honrubia, J.M.; Marco-Marín, C.; Gougeard, N.; De Michele, G.; Morra, V.B.; Liguori, R.; Salviati, L.; Donati, M.A.; Cusano, R. et al.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Expanding the cyanobacterial nitrogen regulatory network: The GntR-like regulator PlmA interacts with the PII-PipX complex

Frontiers in Microbiology
2016 | Journal article
EID:

2-s2.0-84997470952

Contributors: Labella, J.I.; Obrebska, A.; Espinosa, J.; Salinas, P.; Forcada-Nadal, A.; Tremiño, L.; Rubio, V.; Contreras, A.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Structure of AmtR, the global nitrogen regulator of Corynebacterium glutamicum, in free and DNA-bound forms

FEBS Journal
2016 | Journal article
EID:

2-s2.0-84961842244

Contributors: Palanca, C.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations

Human Mutation
2016 | Journal article
EID:

2-s2.0-84974695991

Contributors: Sancho-Vaello, E.; Marco-Marín, C.; Gougeard, N.; Fernández-Murga, L.; Rüfenacht, V.; Mustedanagic, M.; Rubio, V.; Häberle, J.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Ligand binding specificity of RutR, a member of the TetR family of transcription regulators in Escherichia coli

FEBS Open Bio
2015 | Journal article
EID:

2-s2.0-84922309506

Contributors: Nguyen Le Minh, P.; de Cima, S.; Bervoets, I.; Maes, D.; Rubio, V.; Charlier, D.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Structure of human carbamoyl phosphate synthetase: Deciphering the on/off switch of human ureagenesis

Scientific Reports
2015 | Journal article
EID:

2-s2.0-84948429780

Contributors: De Cima, S.; Polo, L.M.; Diéz-Fernández, C.; Martínez, A.I.; Cervera, J.; Fita, I.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

The Study of Carbamoyl Phosphate Synthetase 1 Deficiency Sheds Light on the Mechanism for Switching On/Off the Urea Cycle

Journal of Genetics and Genomics
2015 | Journal article
EID:

2-s2.0-84947047707

Contributors: Díez-Fernández, C.; Gallego, J.; Häberle, J.; Cervera, J.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Crystal structures and functional studies clarify substrate selectivity and catalytic residues for the unique orphan enzyme N-acetyl-D-mannosamine dehydrogenase

2014 | Journal article
EID:

2-s2.0-84907303366

Contributors: Sola-Carvajal, A.; Gil-Ortiz, F.; García-Carmona, F.; Rubio, V.; Sánchez-Ferrer, A.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression

2014 | Journal article
EID:

2-s2.0-84908343581

Contributors: Hu, L.; Diez-Fernandez, C.; Ru¨fenacht, V.; Hismi, B.T.; U¨nal, T.; Soyucen, E.; C¸oker, M.; Bayraktar, B.T.; Gunduz, M.; Kiykim, E. et al.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

SPR analysis of promoter binding of Synechocystis PCC6803 transcription factors NtcA and CRP suggests cross-talk and sheds light on regulation by effector molecules

2014 | Journal article
EID:

2-s2.0-84902657080

Contributors: Forcada-Nadal, A.; Forchhammer, K.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

The structure of a PII signaling protein from a halophilic archaeon reveals novel traits and high-salt adaptations

2014 | Journal article
EID:

2-s2.0-84905236423

Contributors: Palanca, C.; Pedro-Roig, L.; Llácer, J.L.; Camacho, M.; Bonete, M.J.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: Effects of CPS1 mutations that concentrate in a central domain of unknown function

2014 | Journal article
EID:

2-s2.0-84901623224

Contributors: Díez-Fernández, C.; Hu, L.; Cervera, J.; Häberle, J.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy

2013 | Journal article
EID:

2-s2.0-84882863063

Contributors: Vitoria, I.; Dalmau, J.; Ribes, C.; Rausell, D.; García, A.M.; López-Montiel, J.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool

2013 | Journal article
EID:

2-s2.0-84880514583

Contributors: Diez-Fernandez, C.; Martínez, A.I.; Pekkala, S.; Barcelona, B.; Pérez-Arellano, I.; Guadalajara, A.M.; Summar, M.; Cervera, J.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Functional dissection of N-Acetylglutamate synthase (ArgA) of pseudomonas aeruginosa and restoration of its ancestral n-acetylglutamate kinase activity

2012 | Journal article
EID:

2-s2.0-84864021915

Contributors: Sancho-Vaello, E.; Fernández-Murga, M.L.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Insight on an arginine synthesis metabolon from the tetrameric structure of yeast acetylglutamate kinase

2012 | Journal article
EID:

2-s2.0-84859965802

Contributors: de Cima, S.; Gil-Ortiz, F.; Crabeel, M.; Fita, I.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

New insight into the transcarbamylase family: The structure of putrescine transcarbamylase, a key catalyst for fermentative utilization of agmatine

2012 | Journal article
EID:

2-s2.0-84857407334

Contributors: Polo, L.M.; Gil-Ortiz, F.; Cantín, A.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Structural and functional insights into endoglin ligand recognition and binding

2012 | Journal article
EID:

2-s2.0-84856710142

Contributors: Alt, A.; Miguel-Romero, L.; Donderis, J.; Aristorena, M.; Blanco, F.J.; Round, A.; Rubio, V.; Bernabeu, C.; Marina, A.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Suggested guidelines for the diagnosis and management of urea cycle disorders

2012 | Journal article
EID:

2-s2.0-84862094822

Contributors: Häberle, J.; Boddaert, N.; Burlina, A.; Chakrapani, A.; Dixon, M.; Huemer, M.; Karall, D.; Martinelli, D.; Crespo, P.S.; Santer, R. et al.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Understanding pyrroline-5-carboxylate synthetase deficiency: Clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

2012 | Journal article
EID:

2-s2.0-84866732177

Contributors: Martinelli, D.; Häberle, J.; Rubio, V.; Giunta, C.; Hausser, I.; Carrozzo, R.; Gougeard, N.; Marco-Marín, C.; Goffredo, B.M.; Meschini, M.C. et al.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Erratum: Two crystal structures of escherichia coli N-acetyl-l-glutamate kinase demonstrate the cycling between open and closed conformations (Journal of Molecular Biology (2010) 399:3 (476-490))

2011 | Journal article
EID:

2-s2.0-79952445796

Contributors: Gil-Ortiz, F.; Ramón-Maiques, S.; Fernández-Murga, M.L.; Fita, I.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Molecular defects in human carbamoy phosphate synthetase I: Mutational spectrum, diagnostic and protein structure considerations

2011 | Journal article
EID:

2-s2.0-79957620774

Contributors: Häberle, J.; Shchelochkov, O.A.; Wang, J.; Katsonis, P.; Hall, L.; Reiss, S.; Eeds, A.; Willis, A.; Yadav, M.; Summar, S. et al.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

The crystal structure of the cephalosporin deacetylating enzyme acetyl xylan esterase bound to paraoxon explains the low sensitivity of this serine hydrolase to organophosphate inactivation

2011 | Journal article
EID:

2-s2.0-79955984080

Contributors: Montoro-García, S.; Gil-Ortiz, F.; García-Carmona, F.; Polo, L.M.; Rubio, V.; Sánchez-Ferrer, Á.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Improved cross-linked enzyme aggregates for the production of desacetyl β-lactam antibiotics intermediates

2010 | Journal article
EID:

2-s2.0-70249089069

Contributors: Montoro-García, S.; Gil-Ortiz, F.; Navarro-Fernández, J.; Rubio, V.; García-Carmona, F.; Sánchez-Ferrer, A.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations

2010 | Journal article
EID:

2-s2.0-76149110801

Contributors: Numata, S.; Koda, Y.; Ihara, K.; Sawada, T.; Okano, Y.; Matsuura, T.; Endo, F.; Yoo, H.-W.; Arranz, J.A.; Rubio, V. et al.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier

Structural basis for the regulation of NtcA-dependent transcription by proteins PipX and PII

2010 | Journal article
EID:

2-s2.0-77957268031

Contributors: Llácer, J.L.; Espinosa, J.; Castells, M.A.; Contreras, A.; Forchhammer, K.; Rubio, V.
Source: Self-asserted source
Vicente Rubio via Scopus - Elsevier
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Page 1 of 4

Peer review (12 reviews for 6 publications/grants)

Review activity for Amino acids. (1)
Review activity for Applied microbiology and biotechnology (3)
Review activity for Bioorganic chemistry. (1)
Review activity for Molecular genetics and metabolism reports. (3)
Review activity for Orphanet journal of rare diseases. (3)
Review activity for Pediatric nephrology. (1)