Cargando…

Beyond Genetic Factors in Familial Amyloidotic Polyneuropathy: Protein Glycation and the Loss of Fibrinogen's Chaperone Activity

Familial amyloidotic polyneuropathy (FAP) is a systemic conformational disease characterized by extracellular amyloid fibril formation from plasma transthyretin (TTR). This is a crippling, fatal disease for which liver transplantation is the only effective therapy. More than 80 TTR point mutations a...

Descripción completa

Detalles Bibliográficos
Autores principales:	da Costa, Gonçalo, Gomes, Ricardo A., Guerreiro, Ana, Mateus, Élia, Monteiro, Estela, Barroso, Eduardo, Coelho, Ana V., Freire, Ana Ponces, Cordeiro, Carlos
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3203866/ https://www.ncbi.nlm.nih.gov/pubmed/22053176 http://dx.doi.org/10.1371/journal.pone.0024850

Ejemplares similares

Transthyretin Amyloidosis: Chaperone Concentration Changes and Increased Proteolysis in the Pathway to Disease
por: da Costa, Gonçalo, et al.
Publicado: (2015)

Familial amyloidotic polyneuropathy in Crete, Greece
por: Tzagournissakis, Minas, et al.
Publicado: (2015)

Glial cells in familial amyloidotic polyneuropathy
por: Gonçalves, Nádia Pereira, et al.
Publicado: (2014)

Tissue remodeling after RNAi-mediated knockdown of TTR in a Familial Amyloidotic Polyneuropathy mouse model
por: Gonçalves, Nádia Pereira, et al.
Publicado: (2015)

Frequency of Cardiovascular Involvement in Familial Amyloidotic Polyneuropathy in Brazilian Patients
por: Queiroz, Márcia Cavalcanti de Campos, et al.
Publicado: (2015)

MMP-14 overexpression correlates with the neurodegenerative process in familial amyloidotic polyneuropathy
por: Martins, Diana, et al.
Publicado: (2017)

Late-onset Familial Amyloidotic Polyneuropathy with Bence Jones Proteinuria and Cardiomyopathy
por: García de León, Sira Carrasco, et al.
Publicado: (2017)

Transscleral Cyclophotocoagulation in Familial Amyloidotic Polyneuropathy Secondary Glaucoma after Ahmed Valve Implantation: A Case Series Study
por: Vieira, Rita, et al.
Publicado: (2021)

Transthyretin-related familial amyloidotic polyneuropathy—Progress in Kumamoto, Japan (1967–2010)—
por: ARAKI, Shukuro, et al.
Publicado: (2010)

Familial amyloidotic polyneuropathy: current and emerging treatment options for transthyretin-mediated amyloidosis
por: Hund, Ernst
Publicado: (2012)

Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study
por: Suhr, Ole B, et al.
Publicado: (2015)

Long-Term Outcomes and Complications of Trabeculectomy for Secondary Glaucoma in Patients with Familial Amyloidotic Polyneuropathy
por: Kawaji, Takahiro, et al.
Publicado: (2014)

De novo intraocular amyloid deposition after hepatic transplantation in familial amyloidotic polyneuropathy
por: Gama, Ivo Filipe, et al.
Publicado: (2017)

Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: Phenotypic, pathological, and MRI description
por: Prashantha, D. K., et al.
Publicado: (2010)

Diflunisal compassive use in transthyretin familial amyloidotic polyneuropathy (TTR-FAP): report of the first Spanish experience
por: Contesse, Sebastián E Azorín, et al.
Publicado: (2015)

Familial amyloidotic polyneuropathy associated with the transthyretin CYS 114 gene in a Russian pair of monozygotic twins.
por: Igor, Igor Srokov, et al.
Publicado: (2015)

Accelerating restrictive cardiomyopathy after liver transplantation in a patient with familial amyloidotic polyneuropathy: a case report
por: Robin, Jason, et al.
Publicado: (2008)

Presence of N-glycosylated transthyretin in plasma of V30M carriers in familial amyloidotic polyneuropathy: an escape from ERAD
por: Teixeira, Anabela C, et al.
Publicado: (2013)

Phase 2 open-label extention (OLE) study of patisiran, an investigational siRNA agent for familial amyloidotic polyneuropathy (FAP)
por: Adams, David, et al.
Publicado: (2015)

Teachings from the French database of TTR familial amyloidotic polyneuropathy (TTR-FAP): large genetic and phenotypic heterogeneity, usefulness of TTR gene testing.
por: Adams, David, et al.
Publicado: (2015)

The Proteome Response to Amyloid Protein Expression In Vivo
por: Gomes, Ricardo A., et al.
Publicado: (2012)

Ocular Manifestations in a Chinese Pedigree of Familial Amyloidotic Polyneuropathy Carrying the Transthyretin Mutation c.401A>G (p.Tyr134Cys)
por: Zhuang, Xiaonan, et al.
Publicado: (2022)

Pneumococcus beyond an Austrian syndrome – A case report
por: Guerreiro, Gonçalo, et al.
Publicado: (2022)

Metabolite extraction for high-throughput FTICR-MS-based metabolomics of grapevine leaves
por: Maia, Marisa, et al.
Publicado: (2016)

Optimization of Time-Course Experiments for Kinetic Model Discrimination
por: Lages, Nuno F., et al.
Publicado: (2012)

Corneal Biomechanics for Ocular Hypertension, Primary Open-Angle Glaucoma, and Amyloidotic Glaucoma: A Comparative Study by Corvis ST
por: Silva, Nisa, et al.
Publicado: (2022)

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration
por: Brunetti, Dario, et al.
Publicado: (2015)

Involvement of 5-lipoxygenase activating protein in the amyloidotic phenotype of an Alzheimer’s disease mouse model
por: Chu, Jin, et al.
Publicado: (2012)

Fibrin Fiber Stiffness Is Strongly Affected by Fiber Diameter, but Not by Fibrinogen Glycation
por: Li, Wei, et al.
Publicado: (2016)

Blood Levels of Glycated Hemoglobin, D-Dimer, and Fibrinogen in Diabetic Retinopathy
por: Zhao, Heng, et al.
Publicado: (2021)

Familial Amyloid Polyneuropathy treatment with Tafamidis – evaluation of one- and two-year treatment in Porto, Portugal
por: Coelho, Teresa, et al.
Publicado: (2015)

Fibrinogen Glycation and Presence of Glucose Impair Fibrin Polymerization—An In Vitro Study of Isolated Fibrinogen and Plasma from Patients with Diabetes Mellitus
por: Luzak, Boguslawa, et al.
Publicado: (2020)

Insulin glycation by methylglyoxal results in native-like aggregation and inhibition of fibril formation
por: Oliveira, Luis MA, et al.
Publicado: (2011)

Amyloid‐β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing
por: Boczonadi, Veronika, et al.
Publicado: (2016)

Modulation of Iron Metabolism in Response to Infection: Twists for All Tastes
por: Gomes, Ana Cordeiro, et al.
Publicado: (2018)

Stepwise Assembly of Fibrinogen Is Assisted by the Endoplasmic Reticulum Lectin-Chaperone System in HepG2 Cells
por: Tamura, Taku, et al.
Publicado: (2013)

Chaperones and Beyond as Key Players in Pluripotency Maintenance
por: Fernandes, Camila Felix de Lima, et al.
Publicado: (2019)

Chaperones in Polyglutamine Aggregation: Beyond the Q-Stretch
por: Kuiper, E. F. E., et al.
Publicado: (2017)

Second-Generation Pharmacological Chaperones: Beyond Inhibitors
por: Tran, My Lan, et al.
Publicado: (2020)

Correlation between hyperglycemia and glycated albumin with retinopathy of prematurity
por: Almeida, Ana C., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_aushbe9m1fge2ipf3s1jkila7h