Cargando…

A Novel Mutation (D395A) in Valosin-Containing Protein Gene Is Associated With Early Onset Frontotemporal Dementia in an Italian Family

Inclusion body myopathy (IBM) with Paget’s disease of bone (PDB) and/or frontotemporal dementia (FTD) (IBMPFD) was recently identified as rare autosomal dominant disorder due to mutations in VCP gene. However, VCP mutations have also been documented in patients with amyotrophic lateral sclerosis (AL...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bruno, Francesco, Conidi, Maria Elena, Puccio, Gianfranco, Frangipane, Francesca, Laganà, Valentina, Bernardi, Livia, Smirne, Nicoletta, Mirabelli, Maria, Colao, Rosanna, Curcio, Sabrina, Di Lorenzo, Raffaele, Maletta, Raffaele, Bruni, Amalia Cecilia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669739/ https://www.ncbi.nlm.nih.gov/pubmed/34917136 http://dx.doi.org/10.3389/fgene.2021.795029

Ejemplares similares

Neuropsychiatric or Behavioral and Psychological Symptoms of Dementia (BPSD): Focus on Prevalence and Natural History in Alzheimer's Disease and Frontotemporal Dementia
por: Laganà, Valentina, et al.
Publicado: (2022)

A Comparison of Behavioral and Psychological Symptoms of Dementia (BPSD) and BPSD Sub-Syndromes in Early-Onset and Late-Onset Alzheimer’s Disease
por: Altomari, Natalia, et al.
Publicado: (2022)

Amyloid Precursor Protein A713T Mutation in Calabrian Patients with Alzheimer’s Disease: A Population Genomics Approach to Estimate Inheritance from a Common Ancestor
por: Abondio, Paolo, et al.
Publicado: (2021)

Uncoupling protein 4 (UCP4) gene variability in neurodegenerative disorders: further evidence of association in Frontotemporal dementia
por: Montesanto, Alberto, et al.
Publicado: (2018)

Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report
por: Kobayashi, Ryota, et al.
Publicado: (2022)

Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases
por: Bruno, Francesco, et al.
Publicado: (2022)

Somatic comorbidities and Alzheimer’s disease treatment
por: Clodomiro, Alessandra, et al.
Publicado: (2013)

Structural insight into mutations at 155 position of valosin containing protein (VCP) linked to inclusion body myopathy with Paget disease of bone and frontotemporal Dementia
por: Wu, Rui, et al.
Publicado: (2021)

The Nerve Growth Factor Receptor (NGFR/p75(NTR)): A Major Player in Alzheimer’s Disease
por: Bruno, Francesco, et al.
Publicado: (2023)

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia
por: Ferrari, Raffaele, et al.
Publicado: (2015)

Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene
por: Miura, Shiroh, et al.
Publicado: (2023)

Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses
por: Ghalandary, Maryam, et al.
Publicado: (2022)

The birth of the middle ages 395-814
por: Moss, H.St. L.B

MON-395 Takotsubo Cardiomyopathy And Metanephrines
por: Cohen, Pollyanna, et al.
Publicado: (2019)

Neuropsychological Evaluation and Quantitative EEG in Patients with Frontotemporal Dementia, Alzheimer’s Disease, and Mild Cognitive Impairment
por: Tomasello, Letteria, et al.
Publicado: (2023)

Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy
por: Ferrari, Veronica, et al.
Publicado: (2022)

COVID-19 vaccine uptake among family caregivers of people with dementia: The role of attitudes toward vaccination, perceived social support and personality traits
por: Bruno, Francesco, et al.
Publicado: (2022)

Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review
por: Bernardi, Livia, et al.
Publicado: (2019)

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease
por: Ju, Jeong-Sun, et al.
Publicado: (2009)

Valosin-Containing Protein Gene Mutations: Cellular Phenotypes Relevant to Neurodegeneration
por: Poksay, Karen S., et al.
Publicado: (2011)

Heterozygous mutations in valosin-containing protein (VCP) and resistance to VCP inhibitors
por: Bastola, Prabhakar, et al.
Publicado: (2019)

The Shortening of Leukocyte Telomere Length Contributes to Alzheimer’s Disease: Further Evidence from Late-Onset Familial and Sporadic Cases
por: Crocco, Paolina, et al.
Publicado: (2023)

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy
por: Schiava, Marianela, et al.
Publicado: (2023)

395 Clinical Features of Dress Syndrome in 42 Patients
por: Park, Mi-Ran, et al.
Publicado: (2012)

395. Safety and Tolerability of Rifampin in Staphylococcal Orthopedic Infections
por: Miller, Andy O, et al.
Publicado: (2019)

Involvement of Peripheral and Central Nervous Systems in a Valosin-Containing Protein Mutation
por: Segers, Kurt, et al.
Publicado: (2014)

Lysine Methylation of the Valosin-Containing Protein (VCP) Is Dispensable for Development and Survival of Mice
por: Fusser, Markus, et al.
Publicado: (2015)

Novel genomic targets of valosin-containing protein in protecting pathological cardiac hypertrophy
por: Zhou, Ning, et al.
Publicado: (2020)

Weighted Protein Interaction Network Analysis of Frontotemporal Dementia
por: Ferrari, Raffaele, et al.
Publicado: (2016)

A novel network analysis approach reveals DNA damage, oxidative stress and calcium/cAMP homeostasis-associated biomarkers in frontotemporal dementia
por: Palluzzi, Fernando, et al.
Publicado: (2017)

Valosin-Containing Protein (VCP/p97) Is an Activator of Wild-Type Ataxin-3
por: Laço, Mário N., et al.
Publicado: (2012)

Valosin-containing protein regulates the proteasome-mediated degradation of DNA-PKcs in glioma cells
por: Jiang, N, et al.
Publicado: (2013)

The valosin‐containing protein is a novel repressor of cardiomyocyte hypertrophy induced by pressure overload
por: Zhou, Ning, et al.
Publicado: (2017)

Retinoid receptor turnover mediated by sumoylation, ubiquitination and the valosin-containing protein is disrupted in glioblastoma
por: Rodriguez, Virginia, et al.
Publicado: (2019)

The Biogenesis of Dengue Virus Replication Organelles Requires the ATPase Activity of Valosin-Containing Protein
por: Mazeaud, Clément, et al.
Publicado: (2021)

Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
por: Korb, Manisha, et al.
Publicado: (2022)

Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases
por: Chu, Siwei, et al.
Publicado: (2023)

ZNF395 Is an Activator of a Subset of IFN-Stimulated Genes
por: Schroeder, Linda, et al.
Publicado: (2017)

Dysregulation of Zinc Finger Protein 395 Contributes to the Pathogenesis of Chondrosarcoma
por: Chen, Changbao, et al.
Publicado: (2021)

NGF controls APP cleavage by downregulating APP phosphorylation at Thr668: relevance for Alzheimer's disease
por: Triaca, Viviana, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_bp8arhket807crguulib06d1tl