Cristina Jou
A5085013391- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Metabolism and Genetic Disorders
- Genetic Neurodegenerative Diseases
- Genomics and Rare Diseases
- RNA modifications and cancer
- RNA Research and Splicing
- Cardiomyopathy and Myosin Studies
- ATP Synthase and ATPases Research
- Coenzyme Q10 studies and effects
- Muscle metabolism and nutrition
- Inflammatory Myopathies and Dermatomyositis
- Nuclear Structure and Function
- Genetics and Neurodevelopmental Disorders
- Myasthenia Gravis and Thymoma
- Biotin and Related Studies
- Glycogen Storage Diseases and Myoclonus
- Epilepsy research and treatment
- SARS-CoV-2 and COVID-19 Research
- SARS-CoV-2 detection and testing
- Biochemical Acid Research Studies
- Cellular transport and secretion
- Cell Adhesion Molecules Research
- COVID-19 Clinical Research Studies
Hospital Sant Joan de Déu Barcelona
2015-2024
Sant Joan de Déu Research Foundation
2018-2024
Institut de Recerca Sant Joan de Déu
2019-2024
Centre for Biomedical Network Research on Rare Diseases
2015-2024
Instituto de Salud Carlos III
2012-2024
Universitat de Barcelona
1991-2024
Instituto de Investigación de Enfermedades Raras
2016-2024
Universitat Autònoma de Barcelona
2012-2024
Université Paris-Est Créteil
2024
Centro de Investigación Biomédica en Red
2012-2023
Multisystem inflammatory syndrome associated with the SARS-CoV-2 pandemic has recently been described in children (MIS-C), partially overlapping Kawasaki disease (KD). We hypothesized that (a) MIS-C and prepandemic KD cytokine profiles may be unique justify clinical differences observed, (b) SARS-CoV-2–specific immune complexes (ICs) explain immunopathology of MIS-C. Seventy-four were included: 14 MIS-C, 9 patients positive for by PCR without (COVID), KD, 37 healthy controls (HCs)....
Background We previously described increased levels of growth and differentiation factor 15 (GDF-15) in skeletal muscle serum patients with mitochondrial diseases. Here we evaluated GDF-15 as a biomarker for diseases affecting children compared it to fibroblast-growth 21 (FGF-21). To investigate the mechanism induction these pathologies measured its expression secretion response dysfunction. Methods analysed 59 samples from 48 disease, 19 other neuromuscular 33 aged-matched healthy children....
Abstract Background Mutations in the gene encoding thymidine kinase 2 (TK2) result myopathic form of mitochondrial DNA depletion syndrome which is a encephalomyopathy presenting children. In order to unveil some mechanisms involved this pathology and identify potential biomarkers therapeutic targets we have investigated expression profile human skeletal muscle deficient for TK2 using cDNA microarrays. Results We analysed whole transcriptome from patients with mutations compared it normal...
Abstract Background We performed a population-based study to describe the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection on pregnancy outcomes. Methods This prospective, included pregnant women who consecutively presented at first/second trimester visits or delivery 3 hospitals in Barcelona, Spain. SARS-CoV-2 antibodies (immunoglobulin [Ig] G and IgM/IgA) were measured all participants, nasopharyngeal real-time polymerase chain reaction (RT-PCR) was...
Sphingolipids function as membrane constituents and signaling molecules, with crucial roles in human diseases, from neurodevelopmental disorders to cancer, best exemplified the inborn errors of sphingolipid metabolism lysosomes. The dihydroceramide desaturase Δ4-dihydroceramide 1 (DEGS1) acts last step a sector pathway, de novo ceramide biosynthesis. Defects DEGS1 cause recently described hypomyelinating leukodystrophy-18 (HLD18) (OMIM #618404). Here, we reveal that is...
Research Article10 September 2018Open Access Source DataTransparent process OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect Kyle Thompson Wellcome Centre for Mitochondrial Research, Newcastle University, upon Tyne, UK Search more papers by this author Nicole Mai Monika Oláhová Filippo Scialó Institute Cell Molecular Biosciences, University Ageing, Luke E Formosa Department of Biochemistry Biology, Monash Biomedicine Discovery Institute,...
This study aimed to assess acute and residual changes in sprint-related hamstring injury (HSI) risk factors after a football (soccer) match, focusing on recovery within the commonly observed 72-h timeframe between elite matches. We used multifactorial approach context, incorporating optical ultrastructural microscopic analysis of BFlh (biceps femoris long head) muscle fibres, along with an examination fibre composition. Changes sprint performance-related HSI modifiable were examined until 3...
The clinical application of advanced next-generation sequencing technologies is increasingly uncovering novel classes mutations that may serve as potential targets for precision medicine therapeutics. Here, we show a deep intronic splice defect in the COL6A1 gene, originally discovered by applying muscle RNA patients with findings collagen VI–related dystrophy (COL6-RD), inserts an in-frame pseudoexon into mRNA, encodes mutant α1(VI) protein exerts dominant-negative effect on VI matrix...
Abstract Transport And Golgi Organization protein 2 (TANGO2) deficiency has recently been identified as a rare metabolic disorder with distinct clinical and biochemical phenotype of recurrent crises, hypoglycemia, lactic acidosis, rhabdomyolysis, arrhythmias, encephalopathy cognitive decline. We report nine subjects from seven independent families, we studied muscle histology, respiratory chain enzyme activities in skeletal proteomic signature fibroblasts. All carried autosomal recessive...
Abstract Laboratory data interpretation for the assessment of complex biological systems remains a great challenge, as occurs in mitochondrial function research studies. The classical biochemical patients versus reference values may be insufficient, and fact current classifications are still done on basis probability criteria. We have developed applied mathematic agglomerative algorithm to search correlations among different variables respiratory chain order identify populations displaying...
Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized early onset muscle weakness leading to severe and irreversible disability. The cellular molecular consequences of lack humans are only partially known, which crucial for development new therapies aiming slow or stop progression disease. Here we have analyzed quadriceps biopsies seven DMD patients aged 2 4 years old five age gender matched controls using single nuclei RNA sequencing...
DMD nonsense and frameshift mutations lead to severe Duchenne muscular dystrophy while in-frame milder Becker dystrophy. Exceptions are found in 10% of cases the production alternatively spliced transcripts is considered a key modifier disease severity. Several exonic have been shown induce exon-skipping, splice site result exon-skipping or activation cryptic sites. However, factors determining splicing pathway still unclear. Point provide valuable information regarding regulation pre-mRNA...
Abstract Background Between 8% and 22% of female carriers DMD mutations exhibit clinical symptoms variable severity. Development in mutation without chromosomal rearrangements has been attributed to skewed X-chromosome inactivation (XCI) favouring predominant expression the mutant allele. However prognostic use XCI analysis is controversial. We aimed evaluate correlation between development a series symptomatic dystrophinopathy. Methods reviewed clinical, pathological genetic features...
Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion that presents with profound cerebral folate deficiency and other features. Preliminary data support the notion folinic acid therapy might be useful in treatment of KSS patients. Our aim was to assess clinical neuroimaging outcomes patients receiving therapy. Patients: We recruited eight diagnoses KSS. Four cases were treated at 12 de Octubre Hospital, two Sant Joan Déu Hospital. Two refused participate protocol. Methods: Clinical,...
Fatty acids and glucose are the main bioenergetic substrates in mammals. Impairment of mitochondrial fatty acid oxidation causes myopathy leading to decreased physical performance. Here, we report that haploinsufficiency ADCK2, a member aarF domain-containing protein kinase family, human is associated with liver dysfunction severe lipid droplets skeletal muscle. In order better understand etiology this rare disorder, generated heterozygous Adck2 knockout mouse model perform vivo cellular...
Abstract Background Understanding the role of children in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) transmission is critical to guide decision-making for schools pandemic. We aimed describe SARS-CoV-2 among and adult staff summer schools. Methods During July 2020, we prospectively recruited attending Barcelona who had infection. Primary infections were identified through (1) a surveillance program 22 1905 participants, involving weekly saliva sampling reverse-transcription...
Abstract Background One of the most frequent non‐infectious complications humoral immunodeficiencies with a CVID ‐like pattern is particular form inflammatory lung disease which called granulomatous‐lymphocytic interstitial ( GLILD ). Its development worsens patient prognosis, significant decrease in survival. Currently, there are no unified guidelines regarding its management, and different combinations immunosuppressants have been used variable success. Methods Clinical radiological data...
Abstract Background Susceptibility of children and adults to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection persistence antibody response the virus after resolution remain poorly understood, despite their significant public health implications. Methods A prospective cross-sectional seroprevalence study with volunteer families that included at least 1 first-reported adult case positive by SARS-CoV-2 polymerase chain reaction (PCR) child aged <15 years living in...
Background Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders. TRAPPC11-related LGMD is an autosomal-recessive condition characterised by weakness and intellectual disability. Methods A clinical histopathological characterisation 25 Roma individuals with R18 caused the homozygous TRAPPC11 c.1287+5G>A variant reported. Functional effects on mitochondrial function were investigated. Results The leads to phenotype early onset...