Alessia Micalizzi
A5055821441- Genetic and Kidney Cyst Diseases
- Fetal and Pediatric Neurological Disorders
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Hedgehog Signaling Pathway Studies
- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Epigenetics and DNA Methylation
- Cellular transport and secretion
- Cancer-related molecular mechanisms research
- Congenital Anomalies and Fetal Surgery
- Diabetes and associated disorders
- Connective tissue disorders research
- RNA regulation and disease
- Renal and related cancers
- Neuroscience and Neuropharmacology Research
- Medical Imaging and Pathology Studies
- RNA modifications and cancer
- Microtubule and mitosis dynamics
- Cystic Fibrosis Research Advances
- Tissue Engineering and Regenerative Medicine
- Lipid metabolism and disorders
- Calcium signaling and nucleotide metabolism
- Porphyrin Metabolism and Disorders
Bambino Gesù Children's Hospital
2019-2025
Fatebenefratelli Hospital
2024-2025
Laboratory of Molecular Genetics
2023
Istituti di Ricovero e Cura a Carattere Scientifico
2013-2022
University of Pisa
2020
University of Pavia
2020
IRCCS Eugenio Medea
2020
University of Salerno
2020
Fondazione Stella Maris
2020
Fondazione Santa Lucia
2017-2018
Joubert syndrome (JS) is characterized by a distinctive cerebellar structural defect, namely the << molar tooth sign >>. JS genetically heterogeneous, involving 20 genes identified to date, which are all required for cilia biogenesis and/or function. In consanguineous family with associated optic nerve coloboma, kidney hypoplasia, and polydactyly, combined exome sequencing mapping homozygous splice-site mutation in PDE6D, encoding prenyl-binding protein. We found that pde6d depletion...
Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement may result in lethal viable phenotypes. In large numbers cases the defect remains yet to be determined. The aim this study is describe mutational frequency phenotypic spectrum CEP120 gene.
<h3>Objective</h3> To estimate the prevalence of Joubert syndrome (JS) in Italy applying standards descriptive epidemiology and to provide a molecular characterization described patient cohort. <h3>Methods</h3> We enrolled all patients with neuroradiologically confirmed diagnosis JS who resided 2018 calculated age sex prevalence, assuming Poisson distribution. also investigated correlation between proband chronological at performed next-generation sequencing (NGS) analysis on probands9 DNA...
Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 11 families (82 %). We sequenced 313 JS probands and identified mutations 28 (8.9 %), most with pure JS. Only 2 out 17 patients (11.7 %) were mutated. A comparison vs. non-mutated showed that preaxial mesoaxial polydactyly, hypothalamic hamartoma other congenital defects may predict mutations, while tongue hamartomas are more common...
Abstract AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded GRIA1–GRIA4 genes, which only GRIA3 is X-chromosomal. Increasing numbers missense variants are reported patients with neurodevelopmental disorders (NDD), but a few have been examined functionally. Here, we evaluated impact on AMPAR function one frameshift and 43 rare identified NDD...
Background and purpose Mutations in the PLA 2G6 gene are causative of PLA2G6 ‐associated neurodegeneration ( PLAN ), a spectrum neurodegenerative conditions including infantile, childhood adult onset forms. Methods Seventeen North African patients with clinical suspicion infantile‐onset underwent clinical, neurophysiological neuroimaging examinations, sequencing. Haplotype analysis was performed to date identified founder mutation. Results All carried biallelic mutations . Sixteen children...
CTNNB1 [OMIM *116806] encodes β-catenin, an integral part of the cadherin/catenin complex, which functions as effector Wnt signaling. is highly expressed in brain well other tissues, including heart. Heterozygous pathogenic variations are associated with a neurodevelopmental disorder characterized by spastic diplegia and visual defects (NEDSDV) #615075], featuring psychomotor delay, intellectual disability, behavioral disturbances, movement disorders, subtle facial somatic features. We...
Background Pontocerebellar hypoplasias (PCH) comprise a group of genetically heterogeneous disorders characterised by concurrent hypoplasia the pons and cerebellum variable clinical imaging features. The current classification includes 13 subtypes, with ~20 known causative genes. Attempts have been made to delineate phenotypic spectrum associated specific PCH genes, yet neuroradiological features are not consistent across studies, making it difficult define gene-specific outcomes. Methods We...
Abstract Background Joubert syndrome (JS) is an inherited ciliopathy characterized by a complex midbrain–hindbrain malformation and multiorgan involvement. Renal disease, mainly juvenile nephronophthisis (NPH), was reported in 25–30% patients although only ∼18% had confirmed diagnosis of chronic kidney disease (CKD). NPH often remains asymptomatic for many years, resulting delayed diagnosis. The aim the study to identify biomarker able quantify risk progressive CKD young children with JS....
Kinesins are motor proteins involved in microtubule (MT)-mediated intracellular transport. They contribute to key cellular processes, including trafficking, organelle dynamics and cell division. Pathogenic variants kinesin-encoding genes underlie several human diseases characterized by an extremely variable clinical phenotype, ranging from isolated neurodevelopmental/neurodegenerative disorders syndromic phenotypes belonging a family of conditions collectively termed as 'ciliopathies.' Among...
Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by distinctive mid-hindbrain malformation, the 'molar tooth sign'. Over 40 JS-associated genes are known, accounting for two-thirds of cases.While most variants novel or extremely rare, we report on 11 recurring in seven genes, including three known 'founder variants' Ashkenazi Jewish, Hutterite and Finnish populations. We evaluated variant frequencies ~550 European patients with JS compared them controls (>15 000 Italian...
Basal ganglia are subcortical grey nuclei that play essential roles in controlling voluntary movements, cognition and emotion. While basal dysfunction is observed many neurodegenerative or metabolic disorders, congenital malformations rare. In particular, dysplastic part of the malformative spectrum tubulinopathies X-linked lissencephaly with abnormal genitalia, but neurodevelopmental syndromes characterized by agenesis not known to date. We ascertained two unrelated children (both female)...