Charles Marques Lourenço
A5033262447- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Hereditary Neurological Disorders
- Trypanosoma species research and implications
- Genetics and Neurodevelopmental Disorders
- Neurological diseases and metabolism
- Glycogen Storage Diseases and Myoclonus
- Folate and B Vitamins Research
- RNA regulation and disease
- Child Nutrition and Feeding Issues
- Neurogenetic and Muscular Disorders Research
- Biomedical Research and Pathophysiology
- Genomic variations and chromosomal abnormalities
- Cellular transport and secretion
- Calcium signaling and nucleotide metabolism
- Porphyrin Metabolism and Disorders
- Autoimmune and Inflammatory Disorders Research
- Carbohydrate Chemistry and Synthesis
- Neonatal Health and Biochemistry
- Amino Acid Enzymes and Metabolism
- Genomics and Rare Diseases
- Biochemical and Molecular Research
- Glycosylation and Glycoproteins Research
Universidade de São Paulo
2013-2025
Faculdade de Medicina de São José do Rio Preto
2011-2025
Universidade de Ribeirão Preto
2013-2024
Estácio (Brazil)
2020-2024
Fundação Faculdade de Medicina
2022
Max Planck Research Unit for Neurogenetics
2020-2022
SUPERA Park of Innovation and Technology of Ribeirão Preto
2021
Centro Paulista de Investigação Clinica
2021
Clinics Hospital of Ribeirão Preto
2010-2020
Hospital Sírio-Libanês
2019-2020
Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1 , RNASEH2A RNASEH2B RNASEH2C SAMHD1 ADAR or IFIH1 . We report on 374 patients from 299 families with these seven genes. Most conformed one two fairly stereotyped clinical profiles; either exhibiting utero disease‐onset (74 patients; 22.8% all where data were available), a post‐natal presentation, usually within the first year life (223 68.6%), characterized by sub‐acute encephalopathy and loss...
Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, oral pharmacologic chaperone, stabilizes specific mutant forms α-galactosidase, increasing enzyme trafficking lysosomes.The initial assay that we used categorize 67 patients with disease for randomization 6 months double-blind migalastat or placebo (stage 1), followed by open-label from 12 2) plus additional year, had certain limitations. Before...
Additional neurological features have recently been described in seven families transmitting pathogenic mutations OPA1, the most common cause of autosomal dominant optic atrophy. However, frequency these syndromal 'dominant atrophy plus' variants and extent involvement not established. In this large multi-centre study 104 patients from 45 independent families, including 60 new cases, we show that extra-ocular complications are OPA1 disease, affect up to 20% all mutational carriers. Bilateral...
<h3>Background</h3> Fabry disease is an X-linked lysosomal storage disorder caused by <i>GLA</i> mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of substrates. Migalastat, oral pharmacological chaperone being developed as alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (<i>amenable</i>) forms α-Gal facilitate normal trafficking. <h3>Methods</h3> The main objective the 18-month, randomised, active-controlled ATTRACT study was...
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability genetic heterogeneity. This study provides comprehensive view of the current basis, range gene-phenotype associations in JS.
Boucher-Neuhäuser and Gordon Holmes syndromes are clinical defined by early-onset ataxia hypogonadism plus chorioretinal dystrophy (Boucher-Neuhäuser syndrome) or brisk reflexes (Gordon syndrome). Here we uncover the genetic basis of these two syndromes, demonstrating that both clinically distinct entities allelic for recessive mutations in gene PNPLA6. In five seven syndrome/Gordon syndrome families, identified nine rare conserved damaging applying whole exome sequencing. Further,...
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one lysosomal enzymes involved in glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to accumulation GAG various organs and tissues affected patients, resulting a multisystemic clinical picture, sometimes including cognitive impairment. Until beginning XXI century, treatment was mainly supportive. Bone marrow transplantation improved natural course disease some types MPS, but morbidity...
The study of Drosophila neurodegenerative mutants combined with genetic and biochemical analyses lead to the identification multiple complex mutations in 60 patients a novel form ataxia/leukoencephalopathy.
Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well neuronal phenotype EPG5 knock-down Drosophila melanogaster. identified 39 different mutations, most them truncating predicted result reduced protein. Most were private, but three recurrent (p.Met2242Cysfs*5, p.Arg417*, p.Gln336Arg) indicated...
<h3>Objective:</h3> We aimed to delineate the clinical and genetic spectrum of ATP1A3-related disorders recognition a potential genotype-phenotype correlation. <h3>Methods:</h3> identified 16 new patients with alternating hemiplegia childhood (AHC) 3 rapid-onset dystonia-parkinsonism (RDP) included these as well molecular findings all previously reported 164 mutation-positive AHC RDP in our analyses. <h3>Results:</h3> Major characteristics shared common by comprise strikingly asymmetric,...
To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations predicted functional consequences based on structural modeling.We reviewed data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation known undertook biomolecular modeling assess effect function.We identified 19 de novo a sibling pair who had an inherited from mosaic parent. Seven (33.3%)...