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Showing 1–13 of 13 results

Advanced filters: Author: Rafael Artuch Clear advanced filters

Mutations of GEMIN5 are associated with coenzyme Q₁₀ deficiency: long-term follow-up after treatment

Marivi V. Cascajo-Almenara
Natalia. Juliá-Palacios
Rafael Artuch
Research05 Feb 2024
European Journal of Human Genetics

Volume: 32, P: 426-434
Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter

Asc1/CD98hc is a key regulator of small neutral amino acid transport in the brain and adipose tissue. Here, authors report the structure of semi-occluded hAsc1/CD98hc and provide a model for Asc1 exchange and facilitated diffusion modes of transport.

Josep Rullo-Tubau
Maria Martinez-Molledo
Oscar Llorca
ResearchOpen Access06 Apr 2024
Nature Communications

Volume: 15, P: 1-14
Peripheral Neuropathy with Ataxia in Childhood as a Result of the G8363A Mutation in Mitochondrial DNA

Mercedes Pineda
Abelardo Solano
Julio Montoya
Research01 Jul 2004
Pediatric Research

Volume: 56, P: 55-59
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q₁₀ content

Claudio Asencio
María A Rodríguez-Hernandez
Plácido Navas
Research27 May 2015
European Journal of Human Genetics

Volume: 24, P: 367-372
Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases

Marta Molero-Luis
Didac Casas-Alba
Rafael Artuch
ResearchOpen Access26 Oct 2020
Scientific Reports

Volume: 10, P: 1-9
Plasma coenzyme Q₁₀ status is impaired in selected genetic conditions

Raquel Montero
Delia Yubero
Rafael Artuch
ResearchOpen Access28 Jan 2019
Scientific Reports

Volume: 9, P: 1-8
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

Marta Batllori
Marta Molero-Luis
Rafael Artuch
ResearchOpen Access07 Nov 2017
Scientific Reports

Volume: 7, P: 1-9
Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

Sonia Emperador
M Pilar Bayona-Bafaluy
Julio Montoya
Research28 Sept 2016
European Journal of Human Genetics

Volume: 25, P: 153-156
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

Cristina Dominguez-Gonzalez
Carmen Badosa
Cecilia Jimenez-Mallebrera
ResearchOpen Access22 Jun 2020
Scientific Reports

Volume: 10, P: 1-13
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

Alba-Aina Castells
Daniela Gueraldi
Àngels Garcia-Cazorla
ResearchOpen Access24 Jun 2019
Scientific Reports

Volume: 9, P: 1-14
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC

The levels of monoamines and their cofactors in cerebrospinal fluid are strong indicators for dopamine and serotonin biosynthesis and turnover. This protocol describes a set of HPLC-based approaches for the quantitative detection of these molecules.

Marta Batllori
Marta Molero-Luis
Rafael Artuch
Protocols19 Oct 2017
Nature Protocols

Volume: 12, P: 2359-2366
The Spanish Polygenic Score reference distribution: a resource for personalized medicine

Rosario Carmona
Gema Roldán
Daniel López-López
ResearchOpen Access24 Apr 2025
European Journal of Human Genetics

Volume: 34, P: 270-277
Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor

Karolina Szczesna
Olga de la Caridad
Manel Esteller
ResearchOpen Access11 Jun 2014
Neuropsychopharmacology

Volume: 39, P: 2846-2856