A5011380148- Cellular transport and secretion
- Metabolism and Genetic Disorders
- RNA regulation and disease
- Autoimmune Neurological Disorders and Treatments
- Neurological diseases and metabolism
- Peripheral Neuropathies and Disorders
- Circadian rhythm and melatonin
- Ion channel regulation and function
- Mitochondrial Function and Pathology
- Biotin and Related Studies
- Sleep and Wakefulness Research
- Multiple Sclerosis Research Studies
- Neuroscience of respiration and sleep
- Parkinson's Disease Mechanisms and Treatments
- Lysosomal Storage Disorders Research
- Neonatal Health and Biochemistry
- Carbohydrate Chemistry and Synthesis
- Herpesvirus Infections and Treatments
- Nuclear Structure and Function
- Glycogen Storage Diseases and Myoclonus
- Porphyrin Metabolism and Disorders
- Cerebrovascular and genetic disorders
- Folate and B Vitamins Research
- Biochemical and Molecular Research
Hospital Universitario Virgen de las Nieves
2011-2024
Hospital Sant Joan de Déu Barcelona
2017
Complejo Hospitalario Universitario de Granada
2017
Melatonin is synthesized from serotonin and it excreted as sulphatoxymelatonin in urine. We aim to evaluate urinary a biomarker of brain status cohort patients with mutations genes related biosynthesis. analized 65 healthy subjects 28 genetic defects. A total 18 were studied: 14 autosomal dominant recessive guanosine triphosphate cyclohydrolase-I deficiency; 3 sepiapterin reductase 1 aromatic L-amino acid decarboxylase deficiency. Further 11 studied after receiving serotoninergic treatment...
Ataxia in children is a common clinical sign of numerous neurological disorders consisting impaired coordination voluntary muscle movement. Its most form, cerebellar ataxia, describes heterogeneous array neurologic conditions with uncountable causes broadly divided as acquired or genetic. Numerous genetic are associated chronic progressive which complicates management, particularly on the diagnostic stage. Advances omics technologies enable improvements practice and research, so we proposed...
This study aimed to elucidate the genetic causes underlying juvenile parkinsonism (JP) diagnosed in a girl with several family members spinocerebellar ataxia type 2 (SCA2). To achieve this, whole-exome sequencing, analysis of CAG repeats, RNA sequencing on fibroblasts, and metabolite identification were performed. As result, homozygous missense mutation SNP T>C (rs2254562) synaptojamin 1 (SYNJ1), which has been implicated regulation membrane trafficking synaptic vesicles, was identified....
Background: Protein CCDC186 is involved in the maturation of dense core vesicles trans-Golgi network neurons and endocrine cells. To date, only one patient, within a large sequencing study 1000 cases, single case report with variants had previously been described. However, no functional studies any these two cases performed. Methods: Exome from affected individual each family was In addition, Sanger parents siblings also protein assessed cultured fibroblasts or muscle tissue by western blot....
CCDC186 protein is involved in the maturation of dense-core vesicles (DCVs) trans-Golgi network neurons and endocrine cells. Mutations genes DCV regulation, other than CCDC186, have been described patients with neurodevelopmental disorders. To date, only one patient, within a large sequencing study 1000 cases, single case report variants had previously described. However, no functional studies any these two cases performed. We identified three from gypsy families, unrelated to each other,...