Article
Clinical Neurology
Fabio Antonaci, Sabrina Ravaglia, Gaetano S. Grieco, Stella Gagliardi, Cristina Cereda, Alfredo Costa
Summary: In cases of Familial Hemiplegic migraine type 2 caused by ATP1A2 gene mutations, there is a certain hereditary pattern and mild clinical manifestations. Further study on intra-familial variability and functional consequences of the channel protein may help clarify genotype-phenotype correlations.
JOURNAL OF HEADACHE AND PAIN
(2021)
Article
Clinical Neurology
David Fear, Misha Patel, Ramin Zand
Summary: Hemiplegic migraines are a heterogeneous disorder with genetic etiology, classified as sporadic or familial based on family history. MRI changes in Isotropic Diffusion Map (DWI) and Apparent Diffusion Coefficient (ADC) may assist in identifying cases of Hemiplegic Migraine, indicating transient changes throughout the course of an attack.
Article
Clinical Neurology
Yingji Li, Wenjing Tang, Li Kang, Shanshan Kong, Zhao Dong, Dengfa Zhao, Ruozhuo Liu, Shengyuan Yu
Summary: Mutations in ATP1A2 gene can lead to phenotypes ranging from pure FHM to FHM with epilepsy and intellectual disability due to varying degrees of deficits in the biochemical and electrophysiological properties of Na+/K+-ATPase. Mutations associated with intellectual disability result in severe impairment of Na+/K+-ATPase, while the presence of epilepsy or the type of epilepsy does not seem to affect the degree of pump function impairment.
JOURNAL OF HEADACHE AND PAIN
(2021)
Article
Pediatrics
Meifang Lei, Ping Wang, Hong Li, Xiaojun Liu, Jianbo Shu, Qianqian Zhang, Chunquan Cai, Dong Li, Yuqin Zhang
Summary: This study identified a novel variant of the TRPM7 gene in a patient with hemiplegic migraine attacks and hypomagnesemia. The findings highlight the importance of molecular genetic evaluation in patients with TRPM7 gene deficiency and demonstrate the causal relationship between TRPM7 gene variants and disease manifestations.
FRONTIERS IN PEDIATRICS
(2022)
Review
Clinical Neurology
Arathi Nandyala, Tulsi Shah, Jessica Ailani
Summary: This article provides a review of the recent updates in the epidemiology, diagnostic testing, genetics, pathophysiology, and management of hemiplegic migraine. Recent studies have identified two additional genes (PPRT2 and SLC1A3) that may be implicated in hemiplegic migraine, in addition to the three historically associated genes. Hemiplegic migraine is a severe form of migraine with aura that includes reversible hemiparesis and other aura symptoms. Understanding the comprehensive differential diagnosis and work-up is crucial due to the severity of the condition and the presence of mimickers. Further and larger studies are needed to explore the management of these cases.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
(2023)
Article
Neurosciences
Ran Duan, Hong-Ming Li, Wen-Bao Hu, Chun-Gu Hong, Meng-Lu Chen, Jia Cao, Zhen-Xing Wang, Chun-Yuan Chen, Fei Yin, Zhong-Hu Hu, Jia-Da Li, Hui Xie, Zheng-Zhao Liu
Summary: The etiology of epilepsy remains undefined in two-thirds of patients. This study identified a de novo variant of ATP1A2 (c.2426 T > G, p.Leu809Arg) that is associated with idiopathic epilepsy and hemiplegic migraine. The variant affects the function of the Na+/K+-ATPase and leads to increased frequency of nerve impulses. A point variant mouse model was generated to study epilepsy and drug screening.
PROGRESS IN NEUROBIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Jose Carlos Montanes, Marta Huertas, Xavier Messeguer, M. Mar Alba
Summary: The formation of new genes can occur through gene duplication or de novo formation from noncoding sequences. Both mechanisms show similarities in terms of low sequence constraints in the initial evolutionary stages, high turnover rates at the species level, and comparable persistence rates in deeper branches. Additionally, de novo proteins tend to have an excess of substitutions between charged amino acids, leading to rapid loss of their initial highly basic character.
MOLECULAR BIOLOGY AND EVOLUTION
(2023)
Review
Medicine, General & Internal
Ilaria Bonemazzi, Francesco Brunello, Jacopo Norberto Pin, Mattia Pecoraro, Stefano Sartori, Margherita Nosadini, Irene Toldo
Summary: This review focuses on the characteristics of pediatric hemiplegic migraine (HM). It was found that unlike in adults, both genders are equally affected by pediatric HM. Early transient neurological symptoms such as prolonged aphasia during a febrile episode, isolated seizures, transient hemiparesis, and prolonged clumsiness after minor head trauma can precede HM in children. The prevalence of non-motor auras among children is lower compared to adults. Further studies are needed to better understand the clinical phenotype and natural history of pediatric HM and to refine genotype-phenotype correlations.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cell Biology
Catarina Nabais, Delphine Pessoa, Jorge De-Carvalho, Thomas van Zanten, Paulo Duarte, Satyajit Mayor, Jorge Carneiro, Ivo A. Telley, Monica Bettencourt-Dias
Summary: Centrioles are formed by centrosomes and cilia. In most proliferating cells, centrioles are assembled through canonical duplication, regulated by the cell cycle and the presence of mature centrioles. However, in certain cell types, centrioles are assembled de novo by mechanisms that are not yet fully understood.
JOURNAL OF CELL BIOLOGY
(2021)
Article
Neurosciences
Maria A. Gandini, Ivana A. Souza, Laurent Ferron, A. Micheil Innes, Gerald W. Zamponi
Summary: Pathogenic variants in CACNA1A gene are associated with various neurological disorders, including familial hemiplegic migraine, cerebellar conditions, and early onset developmental encephalopathies. Patients with such variants exhibit symptoms such as headaches, motor impairments, and developmental delays. The mutation site in the CaV2.1 channel's S5 segment leads to loss of channel function and structural damage.
Article
Biochemistry & Molecular Biology
Eleni Panagiotakaki, Francesco D. Tiziano, Mohamad A. Mikati, Lisanne S. Vijfhuizen, Sophie Nicole, Gaetan Lesca, Emanuela Abiusi, Agnese Novelli, Lorena Di Pietro, Aster V. E. Harder, Nicole M. Walley, Elisa De Grandis, Anne-Lise Poulat, Vincent Des Portes, Anne Lepine, Marie-Cecile Nassogne, Alexis Arzimanoglou, Rosaria Vavassori, Jan Koenderink, Christopher H. Thompson, Alfred L. George, Fiorella Gurrieri, Arn M. J. M. van den Maagdenberg, Erin L. Heinzen
Summary: This study identified genetic variants in various neurodevelopmental genes, including SCN2A, that lead to AHC or AHC-like presentation in the majority of ATP1A3-negative patients. However, the genetic cause of some patients remains unknown, suggesting the involvement of other mutational mechanisms or oligo- or polygenic risk factors.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Eugenio Lopez-Cortegano, Rory J. Craig, Jobran Chebib, Eniolaye J. Balogun, Peter D. Keightley
Summary: Genetic variation arises from different types of spontaneous mutations, including single-nucleotide substitutions, indels, and structural changes. Structural mutations (SMs) are important in genome evolution and have roles in evolutionary adaptation, speciation, and genetic diseases like cancer. In this study, long-read sequencing was used to determine the full mutation spectrum in mutation accumulation (MA) lines of Chlamydomonas reinhardtii. The rate and spectrum of SMs were found to vary between strains, with a substantial proportion of mutations being SMs. Different strains also showed variation in the types of SMs, which were associated with the presence of active transposable elements (TEs). This study highlights the significant role of different types of SMs and TEs in evolution.
Article
Biochemistry & Molecular Biology
Sonia Gomes Pereira, Ana Laura Sousa, Catarina Nabais, Tiago Paixao, Alexander J. Holmes, Martin Schorb, Gohta Goshima, Erin M. Tranfield, Jorg D. Becker, Monica Bettencourt-Dias
Summary: Centrioles in the spermatogenesis of the bryophyte Physcomitrium patens are born through an uncharacterized de novo pathway, showing twisted and asymmetric morphology. This phenomenon reveals that centriole biogenesis is more diverse than previously thought.
Article
Neurosciences
Neven Maksemous, Claire D. Blayney, Heidi G. Sutherland, Robert A. Smith, Rod A. Lea, Kim Ngan Tran, Omar Ibrahim, Jeffrey R. McArthur, Larisa M. Haupt, M. Zameel Cader, Rocio K. Finol-Urdaneta, David J. Adams, Lyn R. Griffiths
Summary: By analyzing whole-exome sequencing data, we found that rare variants in the CACNA1I gene may be associated with the occurrence of hemiplegic migraine.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Clinical Neurology
Giuseppe Donato Mangano, Maria Rita Capizzi, Elide Mantuano, Liana Veneziano, Giuseppe Santangelo, Giuseppe Quatrosi, Rosaria Nardello, Vincenzo Raieli
Summary: The aim of this study was to describe a cohort of pediatric patients with genetically confirmed familial hemiplegic migraine (FHM). The knowledge of genotype-phenotype correlations may suggest prognostic factors associated with severe phenotypes. The study data show that most of our patients with early-onset FHM experienced infrequent and non-severe attacks, which improved over time.
Review
Biochemistry & Molecular Biology
Federica Rey, Letizia Messa, Erika Maghraby, Giovanna Casili, Sara Ottolenghi, Bianca Barzaghini, Manuela Teresa Raimondi, Cristina Cereda, Salvatore Cuzzocrea, Gianvincenzo Zuccotti, Emanuela Esposito, Irene Paterniti, Stephana Carelli
Summary: Oxygen (O-2) sensing plays a crucial role in the pathogenesis of neurodegenerative diseases (NDs) such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. Common pathways related to O-2 imbalance include hypoxia, hyperoxia, reactive oxygen species production, metabolism of metals, protein misfolding, and neuroinflammation.
ANTIOXIDANTS & REDOX SIGNALING
(2023)
Article
Medical Laboratory Technology
Simona Ferraro, Davide Biganzoli, Roberta Simona Rossi, Franco Palmisano, Marco Bussetti, Enrica Verzotti, Andrea Gregori, Filippo Bianchi, Marco Maggioni, Ferruccio Ceriotti, Cristina Cereda, Gianvincenzo Zuccotti, Peter Kavsak, Mario Plebani, Giuseppe Marano, Elia Mario Biganzoli
Summary: Two nomograms were developed to predict the individual risk of high and low grade prostate cancer (PCa) based on tPSA and %f/tPSA. These nomograms can assist in the decision-making process and enhance the diagnostic capability for patients with ISUP >= 3.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2023)
Letter
Medical Laboratory Technology
Simona Ferraro, Cristina Cereda, Gianvincenzo Zuccotti, Elia Mario Biganzoli
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2023)
Article
Medical Laboratory Technology
Simona Ferraro, Ester Luconi, Valeria Calcaterra, Erika Cordaro, Alice Bianchi, Cristina Cereda, Gianvincenzo Zuccotti, Peter Kavsak, Mario Plebani, Elia Mario Biganzoli, Giuseppe Marano, Patrizia Boracchi
Summary: A common lower reference limit (LRL) can be utilized for TSH, FT4, and FT3 in patients aged <= 18 years, while age-specific upper reference limits (URLs) are recommended.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2023)
Article
Clinical Neurology
Eleonora Bonaventura, Luisella Alberti, Simona Lucchi, Laura Cappelletti, Salvatore Fazzone, Elisa Cattaneo, Matteo Bellini, Giana Izzo, Cecilia Parazzini, Alessandra Bosetti, Elisabetta Di Profio, Giulia Fiore, Matilde Ferrario, Chiara Mameli, Arianna Sangiorgio, Silvia Masnada, Gian Vincenzo Zuccotti, Pierangelo Veggiotti, Luigina Spaccini, Maria Iascone, Elvira Verduci, Cristina Cereda, Davide Tonduti
Summary: X-linked adrenoleukodystrophy (X-ALD) is a common genetic disorder caused by variants in the ABCD1 gene. Early diagnosis and treatment can improve patient outcomes and increase survival rates.
FRONTIERS IN NEUROLOGY
(2023)
Article
Genetics & Heredity
Alessia Mauri, Laura Assunta Saielli, Enrico Alfei, Maria Iascone, Daniela Marchetti, Elisa Cattaneo, Anna Di Lauro, Laura Antonelli, Luisella Alberti, Eleonora Bonaventura, Pierangelo Veggiotti, Luigina Spaccini, Cristina Cereda
Summary: In this study, we report an infant with both Menkes disease and Aminoacylase-1 deficiency, characterized by neurological symptoms such as seizures, neurodevelopmental delay, and hypotonia. Genetic sequencing revealed mutations in the ATP7A and ACY1 genes, contributing to the development of these two rare conditions. This research expands the mutation spectrum of the ATP7A gene.
FRONTIERS IN GENETICS
(2023)
Article
Cell Biology
Clarissa Berardo, Valeria Calcaterra, Alessia Mauri, Stephana Carelli, Letizia Messa, Francesca Destro, Federica Rey, Erika Cordaro, Gloria Pelizzo, Gianvincenzo Zuccotti, Cristina Cereda
Summary: The prevalence of pediatric obesity is increasing worldwide. This study investigates the transcriptional differences in the subcutaneous adipose tissue of children with different weight status. The results show significant deregulation in both coding and non-coding transcripts in the severe obesity group compared to other weight groups. The deregulation is mainly related to lipid metabolism and bioenergetic processes.
Review
Biochemistry & Molecular Biology
Federica Rey, Clarissa Berardo, Erika Maghraby, Alessia Mauri, Letizia Messa, Letizia Esposito, Giovanna Casili, Sara Ottolenghi, Eleonora Bonaventura, Salvatore Cuzzocrea, Gianvincenzo Zuccotti, Davide Tonduti, Emanuela Esposito, Irene Paterniti, Cristina Cereda, Stephana Carelli
Summary: Oxygen imbalance can have detrimental effects on the brain, leading to various neurological disorders. The dysfunctions caused by oxygen imbalance in neurodegenerative and pediatric neurological disorders result from redox imbalance. This review focuses on the underlying dysfunction in redox and potential therapeutic strategies for these conditions.
Article
Engineering, Biomedical
Bianca Barzaghini, Stephana Carelli, Letizia Messa, Federica Rey, Maria Antonietta Avanzini, Emanuela Jacchetti, Erika Maghraby, Clarissa Berardo, Gianvincenzo Zuccotti, Manuela Teresa Raimondi, Cristina Cereda, Valeria Calcaterra, Gloria Pelizzo
Summary: Mesenchymal stem cells (MSCs) show promise as a source for stem cell therapies in pediatric respiratory diseases. Using a 3D micro-scaffold called Nichoid, the anti-inflammatory potential of MSCs can be enhanced through mechanical stimulation, overcoming limitations of biochemical and xenogenic growth factors.
REGENERATIVE ENGINEERING AND TRANSLATIONAL MEDICINE
(2023)
Article
Engineering, Biomedical
Francesca Donnaloja, Manuela Teresa Raimondi, Letizia Messa, Bianca Barzaghini, Federica Carnevali, Emanuele Colombo, Davide Mazza, Chiara Martinelli, Lucia Boeri, Federica Rey, Cristina Cereda, Roberto Osellame, Giulio Cerullo, Stephana Carelli, Monica Soncini, Emanuela Jacchetti
Summary: Mechanical stimuli from the extracellular environment affect cell morphology and functionality. The use of a custom-made 3D microscaffold, called the Nichoid, for cultivating mesenchymal stem cells (MSCs) has been shown to enhance the expression of stemness markers. This device appears to regulate gene activity by altering intracellular force transmission. The findings suggest that the Nichoid can influence MSC behavior and gene regulation through mechanical manipulation.
APL BIOENGINEERING
(2023)
Article
Biochemistry & Molecular Biology
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
Summary: Pompe disease is a genetic disorder caused by mutations in the GAA gene that result in glycogen storage in lysosomes, particularly in muscle tissue. The relationship between genotype and phenotype has been extensively discussed, suggesting that other genetic variants may influence the clinical presentation. In this study, we identified potentially relevant variants in genes related to glycogen synthesis and catabolism in late-onset Pompe disease patients.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Review
Chemistry, Medicinal
Cecilia Pandini, Federica Rey, Cristina Cereda, Stephana Carelli, Paolo Gandellini
Summary: Long non-coding RNAs (lncRNAs) play crucial roles in pediatric neurological diseases and have implications for neural development and disorders. Further research is needed to fully understand the involvement of lncRNAs in pediatric neurological diseases and brain tumors, offering potential therapeutic targets and biomarkers.
Meeting Abstract
Biochemistry & Molecular Biology
Alessia Mauri, Alessandra Duse, Sara Olivotto, Stefania Bova, Pierangelo Veggiotti, Cristina Cereda
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Meeting Abstract
Cell & Tissue Engineering
Bianca Barzaghini, Letizia Messa, Federica Rey, Maria Antonietta Avanzini, Emanuela Jacchetti, Erika Maghrabys, Clarissa Berardo, Gianvincenzo Zuccotti, Cristina Cereda, Valeria Calcaterra, Gloria Pelizzo, Manuela Teresa Raimondi, Stephana Carelli
TISSUE ENGINEERING PART A
(2023)
Meeting Abstract
Cell & Tissue Engineering
Bianca Barzaghini, Letizia Messa, Federica Rey, Francesca Fanizza, Maria Antonella Sforazzini, Letizia Esposito, Gianvincenzo Zuccotti, Cristina Cereda, Roberto Osellame, Giulio Cerullo, Emanuela Jacchetti, Stephana Carelli, Manuela Teresa Raimondi
TISSUE ENGINEERING PART A
(2023)