A5005087345- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- RNA modifications and cancer
- Connective tissue disorders research
- Porphyrin and Phthalocyanine Chemistry
- Metabolism and Genetic Disorders
- Molecular Sensors and Ion Detection
- Cardiomyopathy and Myosin Studies
- Muscle Physiology and Disorders
- Genetics and Neurodevelopmental Disorders
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- RNA and protein synthesis mechanisms
- RNA regulation and disease
- Cancer-related gene regulation
- Nuclear Structure and Function
- Pediatric Hepatobiliary Diseases and Treatments
- Adrenal Hormones and Disorders
- Hereditary Neurological Disorders
- Cellular transport and secretion
- Drug Transport and Resistance Mechanisms
- Microtubule and mitosis dynamics
- Supramolecular Chemistry and Complexes
- Congenital heart defects research
- Protein Tyrosine Phosphatases
Bambino Gesù Children's Hospital
2015-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2014-2023
Institut thématique Génétique, génomique et bioinformatique
2023
Amsterdam University Medical Centers
2021
University of Parma
2021
Emma Kinderziekenhuis
2021
Casa Sollievo della Sofferenza
2006-2019
University of Padua
2017
Labor (Italy)
2015
Boston Children's Hospital
2012-2014
Parkinson's disease (PD) is a progressive neurodegenerative illness associated with selective loss of dopaminergic neurons in the nigrostriatal pathway brain. Despite overall rarity familial forms PD, identification single genes linked to has yielded crucial insights into possible mechanisms neurodegeneration. Recently, putative mitochondrial kinase, PINK1, been found mutated an inherited form parkinsonism. Here, we describe that PINK1 mutations confer different autophosphorylation activity,...
A key question for the understanding of photosynthetic water oxidation is whether four oxidizing equivalents necessary to oxidize dioxygen are accumulated on Mn ions oxygen-evolving complex (OEC), or some ligand-centered oxidations take place before formation and release during S(3) --> [S(4)] S(0) transition. Progress in instrumentation flash sample preparation allowed us apply Kbeta X-ray emission spectroscopy (Kbeta XES) this problem first time. The XES results, combination with...
The pathogenesis of transposition the great arteries (TGA) is still largely unknown. In general, TGA not associated with more common genetic disorders nor extracardiac anomalies, whereas it can be found in individuals lateralisation defects, heterotaxy and asplenia syndrome (right isomerism).To analyse genes previously order to assess mutations familial unassociated other features laterality defects.Probands seven families isolated a family history concordant or discordant congenital heart...
ADVERTISEMENT RETURN TO ISSUEPREVCommunicationNEXTTemplate-Imprinted Chiral Porphyrin AggregatesEmanuele Bellacchio, Rosaria Lauceri, Sergio Gurrieri, Luigi Monsù Scolaro, Andrea Romeo, and Roberto PurrelloView Author Information Dipartimento di Scienze Chimiche Università Catania, Viale Doria 6 95125 Italy Istituto per lo Studio delle Sostanze Naturali Interesse Alimentare e Chimico Farmaceutico C.N.R., Chimica Inorganica Analitica Fisica Messina, ICTPN-C.N.R. Sezione Cite this: J. Am....
Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It characterized by hypoplasia of the cerebellar vermis and particular midbrain-hindbrain "molar tooth" sign, finding shared group syndrome-related disorders (JSRDs), wide phenotypic variability. The frequency mutations in first positionally cloned gene, AHI1, unknown.We searched for AHI1 gene among cohort 137 families JSRD radiographically proven molar tooth...
The proximity of Ca to the Mn cluster photosynthetic water-oxidation complex is demonstrated by X-ray absorption spectroscopy. We have collected EXAFS data at K-edge using active PS II membrane samples that contain approximately 2 per 4 Mn. These are much less perturbed than previously investigated Sr-substituted samples, which were prepared after depletion. new clearly shows backscattering from 3.4 Å, a distance agrees with surmised recorded EXAFS. This result also consistent earlier...
Background The genetic characterization of chronic lymphocytic leukemia cells correlates with the behavior, progression and response to treatment disease.Design Methods Our aim was investigate role ATM gene alterations, their biological consequences value in predicting disease progression. analyzed by denaturing high performance liquid chromatography multiplex ligation probe amplification a series patients at diagnosis. results were correlated immunoglobulin mutations, cytogenetic...
Multiple myeloma is a hematological cancer that considered incurable despite advances in treatment strategy during the last decade. Therapies targeting single pathways are unlikely to succeed due heterogeneous nature of malignancy. Proliferating cell nuclear antigen (PCNA) multifunctional protein essential for DNA replication and repair often overexpressed cells. Many proteins involved cellular stress response interact with PCNA through five amino acid sequence AlkB homologue 2...
Noonan syndrome (NS), the most common RASopathy, is caused by mutations affecting signaling through RAS and MAPK cascade. Recently, genome scanning has discovered novel genes implicated in NS, whose function RAS-MAPK remains obscure, suggesting existence of unrecognized circuits contributing to signal modulation this pathway. Among these genes, leucine zipper-like transcriptional regulator 1 (LZTR1) encodes a functionally poorly characterized member BTB/POZ protein superfamily. Two classes...
ADVERTISEMENT RETURN TO ISSUEPREVNoteNEXTChiral H- and J-Type Aggregates of meso-Tetrakis(4-sulfonatophenyl)porphine on α-Helical Polyglutamic Acid Induced by Cationic PorphyrinsRoberto Purrello, Luigi Monsu' Scolaro, Emanuele Bellacchio, Sergio Gurrieri, Andrea RomeoView Author Information Dipartimento di Scienze Chimiche, Università Catania, Viale A. Doria 6, 95125, Italy, Chimica Inorganica, Analitica e Fisica, Messina, ICTPN CNR Sezione Istituto per lo Studio delle Sostanze Naturali...
Wiedemann-Rautenstrauch syndrome (WRS) is a form of segmental progeria presenting neonatally, characterised by growth retardation, sparse scalp hair, generalised lipodystrophy with characteristic local fatty tissue accumulations and unusual face. We aimed to understand its molecular cause.We performed exome sequencing in two families, targeted 10 other families silico modelling studies transcript processing analyses explore the structural functional consequences identified variants.Biallelic...
In this paper we investigate the self-aggregation of tetracationic porphyrin meso-tetrakis(N-methylpyridinium-4-yl)porphinatocopper(II) (CuT4) onto a chiral polymeric matrix (polyglutamic acid, PG) as well mixtures and tetraanionic, meso-tetrakis(4-sulfonatophenyl)porphine (H4TPPS), porphyrins same PG function pH, temperature, ionic strength, reactant concentration. The systems have been studied by light absorption, fluorescence, circular dichroism (CD), resonance scattering techniques....
The tetraanionic meso-tetrakis(4-sulfonatophenyl)porphine (H2TPPS) in the pH range 5−12 exists a monomeric form, and its fluorescence is not pH-dependent. However, presence of polylysine, absorption, circular dichroism, resonance light scattering data indicate extensive polymer-induced self-aggregation porphyrins. In addition, intensity vs behavior deeply modified, showing sigmoidal profile. particular, at low pHs (≤7), protonated polylysine promotes porphyrins binding with consequent strong...
Mutations in the PINK1 gene cause autosomal recessive parkinsonism characterized by early onset and a variable phenotypic presentation. A patient homozygous for Ala168Pro mutation has been fully clinically. Apart from at age 39 years excellent sustained response to levodopa, all clinical laboratory features, including SPECT assessment of autonomic function, were indistinguishable typical idiopathic Parkinson disease.
Mitochondria are highly dynamic organelles, undergoing continuous fission and fusion. The DNM1L (dynamin-1 like) gene encodes for the DRP1 protein, an evolutionary conserved member of dynamin family, responsible mitochondria, having a role in division peroxisomes, as well. impairment is implicated several neurological disorders associated with either de novo dominant or compound heterozygous mutations. In five patients presenting severe epileptic encephalopathy, we identified variants,...