Cargando…

A novel form of human disease with a protease-sensitive prion protein and heterozygosity methionine/valine at codon 129: Case report

BACKGROUND: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disorder in humans included in the group of Transmissible Spongiform Encephalopathies or prion diseases. The vast majority of sCJD cases are molecularly classified according to the abnormal prion protein (PrP(Sc)) conf...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rodríguez-Martínez, Ana B, Garrido, Joseba M, Zarranz, Juan J, Arteagoitia, Jose M, de Pancorbo, Marian M, Atarés, Begoña, Bilbao, Miren J, Ferrer, Isidro, Juste, Ramón A
Formato:	Texto
Lenguaje:	English
Publicado:	BioMed Central 2010
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987858/ https://www.ncbi.nlm.nih.gov/pubmed/20973975 http://dx.doi.org/10.1186/1471-2377-10-99

Ejemplares similares

Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt–Jakob disease: a case report
por: Rodríguez-Martínez, Ana B, et al.
Publicado: (2012)

Prion Protein Expression and Processing in Human Mononuclear Cells: The Impact of the Codon 129 Prion Gene Polymorphism
por: Segarra, Christiane, et al.
Publicado: (2009)

Prion protein codon 129 polymorphism in mild cognitive impairment and dementia: the Rotterdam Study
por: Karamujić-Čomić, Hata, et al.
Publicado: (2020)

Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients
por: Choi, Bo-Yeong, et al.
Publicado: (2009)

Deciphering the pathogenesis of sporadic Creutzfeldt-Jakob disease with codon 129 M/V and type 2 abnormal prion protein
por: Kobayashi, Atsushi, et al.
Publicado: (2013)

Diagnosis of Methionine/Valine Variant Creutzfeldt-Jakob Disease by Protein Misfolding Cyclic Amplification
por: Bougard, Daisy, et al.
Publicado: (2018)

Methionine oxidation within the prion protein
por: Bettinger, John, et al.
Publicado: (2020)

Preventive or promotive effects of PRNP polymorphic heterozygosity on the onset of prion disease
por: Kai, Hideaki, et al.
Publicado: (2023)

A Valine Mismatch at Position 129 of MICA Is an Independent Predictor of Cytomegalovirus Infection and Acute Kidney Rejection in Simultaneous Pancreas–Kidney Transplantation Recipients
por: Michita, Rafael Tomoya, et al.
Publicado: (2018)

Detecting Differences in Prion Protein Conformation by Quantifying Methionine Oxidation
por: Silva, Christopher J., et al.
Publicado: (2022)

Methionine Sulfoxide Reductases Suppress the Formation of the [PSI(+)] Prion and Protein Aggregation in Yeast
por: Schepers, Jana, et al.
Publicado: (2023)

Sup35 methionine oxidation is a trigger for de novo [PSI(+)] prion formation
por: Grant, Chris M
Publicado: (2015)

Variant Creutzfeldt-Jakob disease strain is identical in individuals of two PRNP codon 129 genotypes
Publicado: (2019)

Variant Creutzfeldt-Jakob disease strain is identical in individuals of two PRNP codon 129 genotypes
por: Diack, Abigail B, et al.
Publicado: (2019)

Phenotypic Heterogeneity of Variably Protease-Sensitive Prionopathy: A Report of Three Cases Carrying Different Genotypes at PRNP Codon 129
por: Baiardi, Simone, et al.
Publicado: (2022)

THE SOLUBILITY OF d-VALINE IN WATER
por: Dalton, John B., et al.
Publicado: (1936)

Dissociation of Valine Cluster Cations
por: Tiefenthaler, Lukas, et al.
Publicado: (2020)

Polymorphism at 129 dictates metastable conformations of the human prion protein N-terminal β-sheet
por: Paz, S. Alexis, et al.
Publicado: (2017)

A Census of Human Methionine-Rich Prion-like Domain-Containing Proteins
por: Aledo, Juan Carlos
Publicado: (2022)

An Update on Autophagy in Prion Diseases
por: López-Pérez, Óscar, et al.
Publicado: (2020)

Targeted quantification of N-1-(carboxymethyl) valine and N-1-(carboxyethyl) valine peptides of β-hemoglobin for better diagnostics in diabetes
por: Jagadeeshaprasad, Mashanipalya G., et al.
Publicado: (2016)

Methionine Oxidation of Sup35 Protein Induces Formation of the [PSI(+)] Prion in a Yeast Peroxiredoxin Mutant
por: Sideri, Theodora C., et al.
Publicado: (2011)

Crystallographic Studies of Prion Protein (PrP) Segments Suggest How Structural Changes Encoded by Polymorphism at Residue 129 Modulate Susceptibility to Human Prion Disease
por: Apostol, Marcin I., et al.
Publicado: (2010)

Heterozygosity for cervid S138N polymorphism results in subclinical CWD in gene-targeted mice and progressive inhibition of prion conversion
por: Arifin, Maria I., et al.
Publicado: (2023)

Underivatized Amino Acid Chromatographic Separation: Optimized Conditions for HPLC-UV Simultaneous Quantification of Isoleucine, Leucine, Lysine, Threonine, Histidine, Valine, Methionine, Phenylalanine, Tryptophan, and Tyrosine in Dietary Supplements
por: Eid, Sherif M., et al.
Publicado: (2022)

Genetic Polymorphism at 15 Codons of the Prion Protein Gene in 156 Goats from Romania
por: Gurau, Maria Rodica, et al.
Publicado: (2022)

Genetic prion disease: D178N with 129MV disease modifying polymorphism—a clinical phenotype
por: Tan, Tracie Huey-Lin, et al.
Publicado: (2020)

Met/Val129 polymorphism of the full-length human prion protein dictates distinct pathways of amyloid formation
por: Pauly, Thomas, et al.
Publicado: (2022)

A novel subtype of sporadic Creutzfeldt–Jakob disease with PRNP codon 129MM genotype and PrP plaques
por: Bayazid, Rabeah, et al.
Publicado: (2023)

Methionine Sulfoxides on Prion Protein Helix-3 Switch on the α-Fold Destabilization Required for Conversion
por: Colombo, Giorgio, et al.
Publicado: (2009)

Methionine Oxidation Perturbs the Structural Core of the Prion Protein and Suggests a Generic Misfolding Pathway
por: Younan, Nadine D., et al.
Publicado: (2012)

Half-life of Fructosyl-valine in the Plasma of Chicks
por: Takahashi, Natsuki, et al.
Publicado: (2020)

Valine metabolites analysis in ECHS1 deficiency
por: Kuwajima, Mari, et al.
Publicado: (2021)

Excitation of L-valine molecules by electrons and photons
por: Bandurin, Yu. A., et al.
Publicado: (2022)

The biological functions and metabolic pathways of valine in swine
por: Wang, Chuni, et al.
Publicado: (2023)

Efficacy of amoxicillin and amoxicillin/clavulanic acid in the prevention of infection and dry socket after third molar extraction. A systematic review and meta-analysis
por: Arteagoitia, María-Iciar, et al.
Publicado: (2016)

Correction: A novel subtype of sporadic Creutzfeldt–Jakob disease with PRNP codon 129MM genotype and PrP plaques
por: Bayazid, Rabeah, et al.
Publicado: (2023)

Electron Impact-Induced Excitation of Valine Molecules in the Gas Phase
por: Shpenik, O. B., et al.
Publicado: (2022)

Numerical Studies of the Impact of Electromagnetic Field of Radiation on Valine
por: Kirova, Teodora, et al.
Publicado: (2023)

Plasma variations in stress markers: Clinical trial of two anesthetics used in regional block in the extraction of impacted inferior third molars
por: Arteagoitia, Iciar, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_aoj0lfs83nimlph5ss1a20882s