Maria Grazia Di Certo

Padlock Assay in Transthyretin Amyloidosis: A Feasibility Study

Maria Grazia Di Certo, Francesca Gabanella, Claudio Passananti, Nicoletta Corbi et autres

INTRODUCTION: The ability to distinguish between transcripts that differ by a single nucleotide positions our padlock assay as a highly accurate imaging tool for detecting disorders associated with structural variations in the human genome. In this study, we evaluated the effectiveness of …

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The Prokineticin system is downregulated in idiopathic rapid eye movement sleep behavior disorder: evidence from olfactory neurons

Piergiorgio Grillo, Daniela Maftei, Alessandra Calculli, Tommaso Schirinzi et autres

STUDY OBJECTIVES: PROK2 is a peptide expressed in the adult brain mediating neuroprotective functions. Previous studies reported an upregulation of prokineticin system in Parkinson's disease (PD), but evidence in prodromal α-synucleinopathies was lacking. We investigated the expression of prokineticin-2 (PROK2) and its …

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The Prokineticin System Is Downregulated in Idiopathic Rapid Eye Movement Sleep Behavior Disorder: Evidence from Olfactory Neurons

Piergiorgio Grillo, Daniela Maftei, Alessandra Calculli, Tommaso Schirinzi et autres

ABSTRACT Objectives PROK2 is a peptide expressed in the adult brain mediating neuroprotective functions. Previous studies reported an upregulation of prokineticin system in PD, but evidence in prodromal α-synucleinopathies was lacking. We investigated the expression of prokineticin-2 (PROK2) and its receptors (PKR1 …

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α‐Synuclein‐Related Mitochondria‐Nrf2 Dysfunction in Parkinson's Disease Olfactory Mucosa

Daniela Maftei, Maria Grazia Di Certo, Riccardo Maurizi, Federica Veltri et autres

Objective The objective of this study was to outline the dynamics of the mitochondrial network and cytoprotective response in patients with Parkinson's disease (PD)‐derived olfactory mucosa neurons (ONs) at different disease stages. Methods ONs obtained by nasal brush from 41 well‐phenotyped patients …

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One-Size-Fits-Nobody: Pediatric Access to Electronic Health Information

Maria Grazia Di Certo, Seema K. Shah

Abstract: Providing adolescents with access to their electronic health information presents both opportunities and challenges for children and families. In an effort to protect the medical privacy of adolescents, some state policies provide adolescents with access to their electronic health information based …

Oxidative Stress in Transthyretin-Mediated Amyloidosis: An Exploratory Study

Marco Fiore, Chiara Cambieri, Laura Libonati, Federica Moret et autres

Transthyretin-mediated amyloidosis (ATTR) is a systemic disease with protein precipitation in many tissues, mainly the peripheral nerve and heart. Both genetic (ATTRv, "v" for variant) and wild-type (ATTRwt) forms are known. Beyond the steric encumbrance, precipitated transthyretin seems to have a toxic …

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Post-COVID-19 Hyposmia Does Not Exhibit Main Neurodegeneration Markers in the Olfactory Pathway

Tommaso Schirinzi, Daniela Maftei, Riccardo Maurizi, Maria Albanese et autres

The biological substrate of persistent post-COVID-19 hyposmia is still unclear. However, as many neurodegenerative diseases present with smell impairment at onset, it may theoretically reflect degeneration within the central olfactory circuits. However, no data still exist regarding the post-COVID-19 patients. As the …

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Reduced expression of secretogranin VGF in laryngeal squamous cell carcinoma

Francesca Gabanella, Daniela Maftei, Andrea Colizza, Emma Rullo et autres

Laryngeal cancer accounts for one-third of all head and neck tumors, with squamous cell carcinoma (SCC) being the most predominant type, followed by neuroendocrine tumors. Chromogranins, are commonly used as biomarkers for neuroendocrine tumors, including laryngeal cancer. It has been reported that …

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HAX1 is a novel binding partner of Che-1/AATF. Implications in oxidative stress cell response

Cinzia Pisani, Annalisa Onori, Francesca Gabanella, Simona Iezzi et autres

HAX1 is a multifunctional protein involved in the antagonism of apoptosis in cellular response to oxidative stress. In the present study we identified HAX1 as a novel binding partner for Che-1/AATF, a pro-survival factor which plays a crucial role in fundamental processes, …

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Investigating Biomarkers for COVID-19 Morbidity and Mortality

Marco Fiore, Flavio Maria Ceci, Giampiero Ferraguti, Marco Lucarelli et autres

BACKGROUND AND OBJECTIVES: This retrospective study aims to disclose further early parameters of COVID-19 morbidity and mortality. METHODS: Three hundred and eighty-two COVID-19 patients, recruited between March and April 2020, were divided into three groups according to their outcome: (1) hospital ward …

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HAX1 Is a Novel Binding Partner of Che-1/AATF. Implications in Oxidative Stress Cell Response

Cinzia Pisani, Annalisa Onori, Francesca Gabanella, Simona Iezzi et autres

HAX1 is a multifunctional protein involved in the antagonism of apoptosis in cellular response to oxidative stress. In the present study we identified HAX1 as novel binding partner for Che-1/AATF, a pro-survival factor which plays a crucial role in fundamental processes, including …

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SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts: Novel Insights in Pathophysiology of Spinal Muscular Atrophy

Francesca Gabanella, Annalisa Onori, Cinzia Pisani, Marco Fiore et autres

The deficiency of survival motor neuron protein (SMN) causes spinal muscular atrophy (SMA), a rare neuromuscular disease that affects different organs. SMN is a key player in RNA metabolism regulation. An intriguing aspect of SMN function is its relationship with plasma membrane-associated …

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