A5014501389- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Nuclear Receptors and Signaling
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Genetic Neurodegenerative Diseases
- Amino Acid Enzymes and Metabolism
- CRISPR and Genetic Engineering
- Pluripotent Stem Cells Research
- Neurotransmitter Receptor Influence on Behavior
- Diet and metabolism studies
- Biochemical and Molecular Research
- Receptor Mechanisms and Signaling
- Protein Tyrosine Phosphatases
- Glycosylation and Glycoproteins Research
- RNA modifications and cancer
- Neurological disorders and treatments
- Carbohydrate Chemistry and Synthesis
- Neurological and metabolic disorders
- Autism Spectrum Disorder Research
- Alcohol Consumption and Health Effects
- Parkinson's Disease Mechanisms and Treatments
- Studies on Chitinases and Chitosanases
- Cellular transport and secretion
- Circular RNAs in diseases
Universitat de Barcelona
2013-2024
Hospital de Sant Pau
2024
Synapse (Spain)
2024
Institut de Recerca Sant Pau
2024
Hospital Sant Joan de Déu Barcelona
2015-2024
Universitat Autònoma de Barcelona
2024
Centre for Biomedical Network Research on Rare Diseases
2019-2021
Instituto de Salud Carlos III
2019-2021
Sant Joan de Déu Research Foundation
2015-2020
Abstract Proteostatic regulation of tyrosine hydroxylase (TH), the rate‐limiting enzyme in dopamine biosynthesis, is crucial for maintaining proper brain neurotransmitter homeostasis. Variants TH gene are associated with deficiency (THD), a rare disorder wide phenotypic spectrum and variable response to treatment, which affects protein stability may lead accelerated degradation, loss function catecholamine deficiency. In this study, we investigated effects cofactor tetrahydrobiopterin (BH 4...
haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) electroencephalograms (EEG), potential biomarkers have been postulated, including changes background activity, fixation-off sensitivity (FOS) or eye closure (ECS). In this study we clinically evaluate new cohort 36 SYNGAP1-DEE individuals. Standardized questionnaires were...
Abstract Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder leading to dopaminergic depletion and early‐onset Parkinsonism. Affected children present with either severe form that does not respond L‐Dopa treatment (THD‐B) or milder responsive (THD‐A). We generated induced pluripotent stem cells (iPSCs) from THD patients were differentiated into neurons (DAn) compared control‐DAn healthy individuals gene‐corrected isogenic controls. Consistent patients, iPSC‐DAn displayed lower...
ABSTRACT Background Genetic defects of monoamine neurotransmitters are rare neurological diseases amenable to treatment with variable response. They major causes early parkinsonism and other spectrum movement disorders including dopa‐responsive dystonia. Objectives The objective this study was conduct proteomic studies in cerebrospinal fluid (CSF) samples patients detect biomarkers involved pathophysiology, clinical phenotypes, Methods A total 90 from diverse centers the International...
Abstract Patients with inborn errors of amino acid metabolism frequently show neuropsychiatric symptoms despite accurate metabolic control. This study aimed to gain insight into the underlying mechanisms neural dysfunction. Here we analyzed expression brain-derived neurotrophic factor (BDNF) and 10 genes required for correct brain functioning in plasma blood patients Urea Cycle Disorders (UCD), Maple Syrup Urine Disease (MSUD) controls. Receiver-operating characteristic (ROC) analysis was...
Defects of biogenic amines synthesis encompass a group rare genetic disorders that have been described during the last few decades. They include tyrosine hydroxylase deficiency, aromatic L-amino acid decarboxylase and pterin defects such as 6-pyruvoyl-tetrahydropterin synthase dihydropteridine reductase guanosine triphosphate cyclohydrolase-I sepiapterin deficiency. These diseases cause low brain concentrations catecholamines (dopamine norepinephrine) serotonin, which may affect motor,...
Methyl-CpG-binding protein 2 (MeCP2) is an X-linked epigenetic modulator whose dosage critical for neural development and function. Loss-of-function mutations in MECP2 cause Rett Syndrome (RTT, OMIM #312750) while duplications the Xq28 locus containing Interleukin-1 receptor-associated kinase 1 (IRAK1) duplication syndrome (MDS, #300260). Both are rare neurodevelopmental disorders that share clinical symptoms, including intellectual disability, loss of speech, hand stereotypies, vasomotor...
Abstract Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder leading to dopaminergic depletion and early-onset parkinsonism. Affected children present with either severe form that does not respond L-Dopa treatment (THD-B), or milder responsive (THD-A). We generated induced pluripotent stem cells (iPSCs) from THD patients were differentiated into neurons (DAn) compared control-DAn healthy individuals gene-corrected isogenic controls. Consistent patients, iPSC-DAn displayed lower...