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.

Autor: Tiziana Ginex, Clara Marco-Marín, Miłosz Wieczór, Carlos P Mata, James Krieger, Paula Ruiz-Rodriguez, Maria Luisa López-Redondo, Clara Francés-Gómez, Roberto Melero, Carlos Óscar Sánchez-Sorzano, Marta Martínez, Nadine Gougeard, Alicia Forcada-Nadal, Sara Zamora-Caballero, Roberto Gozalbo-Rovira, Carla Sanz-Frasquet, Rocío Arranz, Jeronimo Bravo, Vicente Rubio, Alberto Marina, IBV-Covid19-Pipeline, Ron Geller, Iñaki Comas, Carmen Gil, Mireia Coscolla, Modesto Orozco, José Luis Llácer, Jose-Maria Carazo

Publikováno v: PLoS Pathogens, Vol 18, Iss 11, p e1010995 (2022)

[This corrects the article DOI: 10.1371/journal.ppat.1010631.].

Externí odkaz: https://doaj.org/article/ba2f6b5305b14bfdb18ac6c0d06dd810

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

Autor: Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Cristina Tello, Clara Marco-Marín, Itxaso Martí-Carrera, María Jesús Martínez-González, Ainhoa García-Ribes, Raquel Baviera-Muñoz, Isabel Sastre-Bataller, Irene Martínez-Torres, Anna Duat-Rodríguez, Patrícia Janeiro, Esther Moreno, Leticia Pías-Peleteiro, Mar O’Callaghan Gordo, Ángeles Ruiz-Gómez, Esteban Muñoz, Maria Josep Martí, Ana Sánchez-Monteagudo, Candela Fuster, Amparo Andrés-Bordería, Roser Maria Pons, Silvia Jesús-Maestre, Pablo Mir, Vincenzo Lupo, Belén Pérez-Dueñas, Alejandra Darling, Sergio Aguilera-Albesa, Carmen Espinós

Publikováno v: International Journal of Molecular Sciences, Vol 23, Iss 19, p 11847 (2022)

Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated c

Externí odkaz: https://doaj.org/article/65e1319d27ad461db2e041f1cb14beef

Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3

Autor: Dolores Martínez-Rubio, Ángela Rodríguez-Prieto, Paula Sancho, Carmen Navarro-González, Nerea Gorría-Redondo, Javier Miquel-Leal, Clara Marco-Marín, Alison Jenkins, Mario Soriano-Navarro, Alberto Hernández, Belén Pérez-Dueñas, Pietro Fazzari, Sergio Aguilera-Albesa, Carmen Espinós

Publikováno v: HUMAN MOLECULAR GENETICS
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Scientia

17 páginas, 8 figuras
Peroxiredoxin 3 (PRDX3) encodes a mitochondrial antioxidant protein, which is essential for the control of reactive oxygen species homeostasis. So far, PRDX3 mutations are involved in mild-to-moderate progressive juvenile

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cdcc3ce146164c11fcb0a4936001ae4
https://pubmed.ncbi.nlm.nih.gov/35766882

Δ 1 ‐Pyrroline‐5‐carboxylate synthetase deficiency: An emergent multifaceted urea cycle‐related disorder

Autor: Vicente Rubio, Juan Manuel Escamilla-Honrubia, Marco Seri, Clara Marco-Marín, José Luis Llácer, Emanuele Panza

Publikováno v: Journal of Inherited Metabolic Disease. 43:657-670

The bifunctional homooligomeric enzyme Δ1 -pyrroline-5-carboxylate synthetase (P5CS) and its encoding gene ALDH18A1 were associated with disease in 1998. Two siblings who presented paradoxical hyperammonemia (alleviated by protein), mental disabilit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::94298741a5a780d4d7977223e1b0419e
https://doi.org/10.1002/jimd.12220

A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy

Autor: Herminia Argente‐Escrig, Juan J. Vílchez, Marina Frasquet, Nuria Muelas, Inmaculada Azorín, Roger Vílchez, Elvira Millet‐Sancho, Inmaculada Pitarch, Miguel Tomás‐Vila, Juan F. Vázquez‐Costa, Fernando Mas‐Estellés, Clara Marco‐Marín, Carmen Espinós, Pablo Serrano‐Lorenzo, Miguel A. Martin, Vincenzo Lupo, Teresa Sevilla

Publikováno v: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
Digital.CSIC. Repositorio Institucional del CSIC
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

14 páginas, 4 figuras, 3 tablas
Aims: We aim to present data obtained from three patients belonging to three unrelated families with an infantile onset demyelinating neuropathy associated to somatic and neurodevelopmental delay and to describe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cb8ad112050ba1f8cb41ba255d7e207
https://fundanet.cipf.es/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3950