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12 results on '"Antonio Canosa"'

1. Brain 18F-FDG-PET signature of ALS with SOD1 and TARDBP mutations

Author

Marco Pagani, Antonio Canosa, Cristina Moglia, Maura Brunetti, Umberto Manera, Francesca Di Pede, Maurizio Grassano, Andrea Calvo, Rosario Vasta, and Adriano Chiò

Subjects
Neurology, business.industry, SOD1, Cancer research, Medicine, Neurology (clinical), business, TARDBP, Signature (logic), 18f fdg pet
Published
2021

2. Validation of the Italian version of the Rasch-built overall amyotrophic lateral sclerosis disability scale (roads)

Author

Rosario Vasta, Francesca Palumbo, Maria Claudia Torrieri, Adriano Chiò, Antonio Canosa, Luca Solero, Umberto Manera, Maurizio Grassano, Cristina Moglia, Alessandro Bombaci, and Andrea Calvo

Subjects
medicine.medical_specialty, Rasch model, Physical medicine and rehabilitation, Neurology, Scale (ratio), medicine, Neurology (clinical), Amyotrophic lateral sclerosis, medicine.disease, Psychology
Published
2021

6. Clinical utility of whole-genome sequencing in a large ALS cohort

Author

Andrea Calvo, Lucia Corrado, Ruth Chia, Jinhui Ding, Letizia Mazzini, Sandra D'Alfonso, Antonio Canosa, Cristina Moglia, Maurizio Grassano, Bryan J. Traynor, Clifton L. Dalgard, Fabiola De Marchi, Umberto Manera, Adriano Chiò, Maura Brunetti, Rosario Vasta, Raphael Gibbs, and Sonja W. Scholz

Subjects
Whole genome sequencing, Neurology, Cohort, Neurology (clinical), Computational biology, Biology
Published
2021

7. The role of anxiety as a prognostic factor in amyotrophic lateral sclerosis

Author

Francesca Palumbo, Maria Claudia Torrieri, Laura Peotta, Andrea Calvo, Enrico Matteoni, Barbara Iazzolino, Umberto Manera, Cristina Moglia, Rosario Vasta, Sara Cabras, Adriano Chiò, Margherita Daviddi, Antonio Canosa, and Maurizio Grassano

Subjects
Oncology, medicine.medical_specialty, Prognostic factor, Neurology, business.industry, Internal medicine, medicine, Anxiety, Neurology (clinical), Amyotrophic lateral sclerosis, medicine.symptom, medicine.disease, business
Published
2021

8. Respiratory domain of ALSFRS-R scale increases arterial blood gas analysis’ sensitivity in assessing pulmonary function in amyotrophic lateral sclerosis

Author

Alessio Mattei, Umberto Manera, Andrea Calvo, Gabriele Mora, Adriano Chiò, Cristina Moglia, Rosario Vasta, Maria Claudia Torrieri, and Antonio Canosa

Subjects
medicine.medical_specialty, Alsfrs r, business.industry, medicine.disease, Pulmonary function testing, Neurology, Internal medicine, medicine, Cardiology, Arterial blood gas analysis, Neurology (clinical), Amyotrophic lateral sclerosis, Respiratory system, business
Published
2021

11. Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels

Author

Henry Houlden, Victoria S Burchell, Andrea Calvo, Jessica Mandrioli, Cristina Moglia, Antonio Canosa, Colin J. Mahoney, Adriano Chiò, Selina Wray, Andrey Y. Abramov, Helene Plun-Favreau, Hsiu-Chuan Wu, Richard W. Orrell, Nick C. Fox, John Hardy, Fernando Bartolome, and Elisavet Preza

Subjects
Male, ATPase, genetics/metabolism, Cell Cycle Proteins, Mitochondrion, Inbred C57BL, medicine.disease_cause, Muscular Dystrophies, Mice, Limb-Girdle, Neuroblastoma, chemistry.chemical_compound, Adenosine Triphosphate, genetics/metabolism/pathology, 0302 clinical medicine, genetics, Magnesium, Amyotrophic lateral sclerosis, Adenosine Triphosphatases, Cerebral Cortex, Neurons, 0303 health sciences, Mutation, Cultured, biology, General Neuroscience, Middle Aged, ultrastructure, deficiency/genetics, Mitochondrial, Mitochondria, Cell biology, Biochemistry, Frontotemporal Dementia, Female, deficiency/genetics, Adenosine Triphosphate, metabolism, Adult, Aged, Analysis of Variance, Animals, Animals, Newborn, Case-Control Studies, Cell Cycle Proteins, deficiency/genetics, Cells, Cultured, Cerebral Cortex, cytology, Family Health, Female, Fibroblasts, metabolism/pathology, Frontotemporal Dementia, genetics/metabolism/pathology, Humans, Lipid Peroxidation, genetics, Luminescent Proteins, genetics, Magnesium, metabolism, Male, Membrane Potential, genetics, Mice, Mice, Inbred C57BL, Middle Aged, Mitochondria, genetics/metabolism/pathology, Muscular Dystrophies, genetics/metabolism/pathology, Mutation, genetics, Myositis, Inclusion Body, genetics/metabolism/pathology, NAD, metabolism, Neuroblastoma, pathology, Neurons, ultrastructure, Osteitis Deformans, genetics/metabolism/pathology, Oxygen Consumption, genetics, RNA, Small Interfering, genetics/metabolism, Transfection, Adult, metabolism/pathology, Programmed cell death, Neuroscience(all), Cells, Valosin-containing protein, Transfection, Membrane Potential, 03 medical and health sciences, Oxygen Consumption, Report, medicine, Animals, Humans, Aged, 030304 developmental biology, Family Health, Analysis of Variance, Myositis, Fibroblasts, Newborn, NAD, Osteitis Deformans, medicine.disease, Luminescent Proteins, chemistry, Case-Control Studies, cytology, biology.protein, RNA, pathology, Lipid Peroxidation, NAD+ kinase, metabolism, Adenosine triphosphate, 030217 neurology & neurosurgery
Abstract

Summary Valosin-containing protein (VCP) is a highly expressed member of the type II AAA+ ATPase family. VCP mutations are the cause of inclusion body myopathy, Paget’s disease of the bone, and frontotemporal dementia (IBMPFD) and they account for 1%–2% of familial amyotrophic lateral sclerosis (ALS). Using fibroblasts from patients carrying three independent pathogenic mutations in the VCP gene, we show that VCP deficiency causes profound mitochondrial uncoupling leading to decreased mitochondrial membrane potential and increased mitochondrial oxygen consumption. This mitochondrial uncoupling results in a significant reduction of cellular ATP production. Decreased ATP levels in VCP-deficient cells lower their energy capacity, making them more vulnerable to high energy-demanding processes such as ischemia. Our findings propose a mechanism by which pathogenic VCP mutations lead to cell death., Highlights ► VCP deficiency is associated with mitochondrial depolarization ► VCP deficiency leads to increased mitochondrial respiration and uncoupling ► ATP levels are decreased in VCP-deficient cells due to lower ATP production, In this study, Bartolome et al. show that three independent pathogenic VCP mutations induce mitochondrial uncoupling, resulting in low cellular ATP production, rendering the cells more susceptible to cell death under stress-induced ischemic conditions.

Published
2013

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