Cargando…

Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis

Glycogen storage disease type V (GSDV, McArdle disease) is a rare genetic myopathy caused by deficiency of the muscle isoform of glycogen phosphorylase (PYGM). This results in a block in the use of muscle glycogen as an energetic substrate, with subsequent exercise intolerance. The pathobiology of G...

Descripción completa

Detalles Bibliográficos
Autores principales:	García-Consuegra, Inés, Asensio-Peña, Sara, Garrido-Moraga, Rocío, Pinós, Tomàs, Domínguez-González, Cristina, Santalla, Alfredo, Nogales-Gadea, Gisela, Serrano-Lorenzo, Pablo, Andreu, Antoni L., Arenas, Joaquín, Zugaza, José L., Lucia, Alejandro, Martín, Miguel A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9100117/ https://www.ncbi.nlm.nih.gov/pubmed/35563042 http://dx.doi.org/10.3390/ijms23094650

Ejemplares similares

McArdle disease does not affect skeletal muscle fibre type profiles in humans
por: Kohn, Tertius Abraham, et al.
Publicado: (2014)

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies
por: Villarreal-Salazar, Mónica, et al.
Publicado: (2021)

The Second Wind in McArdle Patients: Fitness Matters
por: Salazar-Martínez, Eduardo, et al.
Publicado: (2021)

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model
por: Real-Martinez, Alberto, et al.
Publicado: (2019)

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update
por: Santalla, Alfredo, et al.
Publicado: (2017)

A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease
por: Nogales-Gadea, Gisela, et al.
Publicado: (2012)

Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease
por: Rodríguez-Gómez, Irene, et al.
Publicado: (2020)

Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
por: Villarreal-Salazar, M., et al.
Publicado: (2022)

Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle's Disease Carrying the p.R771PfsX33 PYGM Mutation
por: Nogales-Gadea, Gisela, et al.
Publicado: (2010)

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
por: Scalco, Renata S., et al.
Publicado: (2020)

Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease
por: Rodriguez‐Lopez, Carlos, et al.
Publicado: (2022)

McArdle Disease Misdiagnosed as Meningitis
por: Scalco, Renata Siciliani, et al.
Publicado: (2016)

McArdle Disease and Exercise Physiology
por: Kitaoka, Yu
Publicado: (2014)

McArdle Disease: New Insights into Its Underlying Molecular Mechanisms
por: Llavero, Francisco, et al.
Publicado: (2019)

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro
por: de Luna, Noemí, et al.
Publicado: (2015)

Higher oxidative stress in skeletal muscle of McArdle disease patients
por: Kaczor, Jan J., et al.
Publicado: (2017)

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
por: Pinós, Tomàs, et al.
Publicado: (2020)

Feasibility of resistance training in adult McArdle patients: clinical outcomes and muscle strength and mass benefits
por: Santalla, Alfredo, et al.
Publicado: (2014)

Absence of p.R50X Pygm read-through in McArdle disease cellular models
por: Tarrasó, Guillermo, et al.
Publicado: (2020)

Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene
por: Cerrada, Victoria, et al.
Publicado: (2023)

Neuromotor control associates with muscle weakness observed with McArdle sign of multiple sclerosis
por: Schilaty, Nathan D., et al.
Publicado: (2022)

Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
por: Karazi, Walaa, et al.
Publicado: (2023)

McArdle disease: a case report and review
por: Leite, Alberto, et al.
Publicado: (2012)

No effect of triheptanoin on exercise performance in McArdle disease
por: Madsen, Karen L., et al.
Publicado: (2019)

Determining the prevalence of McArdle disease from gene frequency by analysis of next generation sequencing data: McArdle prevalence by NGS data
por: De Castro, Mauricio, et al.
Publicado: (2015)

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
por: Ortuño-Costela, María del Carmen, et al.
Publicado: (2022)

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)
por: Mahroo, Omar A., et al.
Publicado: (2019)

Resistance Exercise Training in McArdle Disease: Myth or Reality?
por: Pietrusz, Aleksandra, et al.
Publicado: (2018)

Molecular diagnosis of McArdle disease using whole-exome sequencing
por: Kang, Ju-Hyung, et al.
Publicado: (2021)

ODP208 Hypoglycemia as a Presenting Feature of McArdle's Disease
por: Zare, Ahmad, et al.
Publicado: (2022)

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease
por: Piirilä, Päivi, et al.
Publicado: (2016)

Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease
por: Løkken, Nicoline, et al.
Publicado: (2023)

Six-Digit CPK and Mildly Affected Renal Function in McArdle Disease
por: Spyropoulos, George, et al.
Publicado: (2014)

A multi-parametric protocol to study exercise intolerance in McArdle's disease
por: Ricci, Giulia, et al.
Publicado: (2015)

McArdle disease in a patient with anorexia nervosa: a case report
por: Dalle Grave, Riccardo, et al.
Publicado: (2022)

McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients
por: Joshi, Pushpa Raj, et al.
Publicado: (2020)

McArdle disease and pregnancy: A case report and scoping review of pregnancy outcomes
por: Nash, Christopher M, et al.
Publicado: (2021)

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease
por: Thomas-Wilson, Amanda, et al.
Publicado: (2022)

Severe Liver Injury Secondary to COVID-19-Induced Rhabdomyolysis in McArdle Disease
por: Urena Neme, Ana P, et al.
Publicado: (2023)

Personalized Treatment of Periodontitis in a Patient with McArdle's Disease: The Benefits from Probiotics
por: Cannizzaro, Salvatore, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_7490ruh9ssfenfa555ms6kuscj