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Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
Villarreal-Salazar M, Santalla A, Real-Martínez A, Nogales-Gadea G, Valenzuela PL, Fiuza-Luces C, Andreu AL, Rodríguez-Aguilera JC, Martín MA, Arenas J, Vissing J, Lucia A, Krag TO, Pinós T. Villarreal-Salazar M, et al. Among authors: lucia a. Mol Metab. 2022 Dec;66:101648. doi: 10.1016/j.molmet.2022.101648. Epub 2022 Nov 28. Mol Metab. 2022. PMID: 36455789 Free PMC article.
BACKGROUND: McArdle disease is caused by myophosphorylase deficiency and results in complete inability for muscle glycogen breakdown. ...CONCLUSIONS: In McArdle disease, severe muscle oxidative capacity impairment could also be explained by a disruption of the mitoc …
BACKGROUND: McArdle disease is caused by myophosphorylase deficiency and results in complete inability for muscle glycogen breakdown. …
Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.
Villarreal-Salazar M, Brull A, Nogales-Gadea G, Andreu AL, Martín MA, Arenas J, Santalla A, Lucia A, Vissing J, Krag TO, Pinós T. Villarreal-Salazar M, et al. Among authors: lucia a. Genes (Basel). 2021 Dec 28;13(1):74. doi: 10.3390/genes13010074. Genes (Basel). 2021. PMID: 35052414 Free PMC article. Review.
McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. ...In the present work, we describe the existing in vitro and in …
McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, whi …
Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
Núñez-Manchón J, Ballester-Lopez A, Koehorst E, Linares-Pardo I, Coenen D, Ara I, Rodriguez-Lopez C, Ramos-Fransi A, Martínez-Piñeiro A, Lucente G, Almendrote M, Coll-Cantí J, Pintos-Morell G, Santos-Lozano A, Arenas J, Martín MA, de Castro M, Lucia A, Santalla A, Nogales-Gadea G. Núñez-Manchón J, et al. Among authors: lucia a. J Inherit Metab Dis. 2018 Nov;41(6):1027-1035. doi: 10.1007/s10545-018-0203-2. Epub 2018 Jun 20. J Inherit Metab Dis. 2018. PMID: 29926259
McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphorylase. ...The purpose of our study was to determine if there are actually "manifesting" heterozygotes of McArdle disease and, if exis …
McArdle disease is an autosomal recessive condition caused by deficiency of the PYGM gene-encoded muscle isoform of glycogen phosphor …
McArdle disease: a unique study model in sports medicine.
Santalla A, Nogales-Gadea G, Ørtenblad N, Brull A, de Luna N, Pinós T, Lucia A. Santalla A, et al. Among authors: lucia a. Sports Med. 2014 Nov;44(11):1531-44. doi: 10.1007/s40279-014-0223-5. Sports Med. 2014. PMID: 25028051 Review.
McArdle disease is arguably the paradigm of exercise intolerance in humans. This disorder is caused by inherited deficiency of myophosphorylase, the enzyme isoform that initiates glycogen breakdown in skeletal muscles. ...
McArdle disease is arguably the paradigm of exercise intolerance in humans. This disorder is caused by inherited deficiency of myopho …
Glycogen Storage Disease Type V.
Martín MA, Lucia A, Arenas J, Andreu AL. Martín MA, et al. Among authors: lucia a. 2006 Apr 19 [updated 2019 Jun 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Apr 19 [updated 2019 Jun 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301518 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. ...
CLINICAL CHARACTERISTICS: Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise i …
Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet: An International Survey in Patients with McArdle Disease.
Løkken N, Voermans NC, Andersen LK, Karazi W, Reason SL, Zweers H, Wilms G, Santalla A, Susanibar E, Lucia A, Vissing J. Løkken N, et al. Among authors: lucia a. Nutrients. 2023 Feb 7;15(4):843. doi: 10.3390/nu15040843. Nutrients. 2023. PMID: 36839201 Free PMC article.
The low-carbohydrate ketogenic diet (LCKD) has attracted increased attention in recent years as a potential treatment option for individuals with McArdle disease (glycogen storage disease type V), and despite the absence of strong scientific evidence of the LCKD's benefits …
The low-carbohydrate ketogenic diet (LCKD) has attracted increased attention in recent years as a potential treatment option for individuals …
Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease.
Ortuño-Costela MDC, Rodríguez-Mancera N, García-López M, Zurita-Díaz F, Moreno-Izquierdo A, Lucía A, Martín MÁ, Garesse R, Gallardo ME. Ortuño-Costela MDC, et al. Among authors: lucia a. Stem Cell Res. 2017 Aug;23:188-192. doi: 10.1016/j.scr.2017.07.020. Epub 2017 Jul 28. Stem Cell Res. 2017. PMID: 28925366 Free article.
Human iPSC line IISHDOi001-A was generated from fibroblasts of a patient with McArdle disease harbouring the mutation, c.148C>T; p.Arg50Ter, in the PYGM gene. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using Sendai virus....
Human iPSC line IISHDOi001-A was generated from fibroblasts of a patient with McArdle disease harbouring the mutation, c.148C>T; p …
Genes and exercise intolerance: insights from McArdle disease.
Nogales-Gadea G, Godfrey R, Santalla A, Coll-Cantí J, Pintos-Morell G, Pinós T, Arenas J, Martín MA, Lucia A. Nogales-Gadea G, et al. Among authors: lucia a. Physiol Genomics. 2016 Feb;48(2):93-100. doi: 10.1152/physiolgenomics.00076.2015. Epub 2015 Oct 13. Physiol Genomics. 2016. PMID: 26465709 Review.
McArdle disease (glycogen storage disease type V) is caused by inherited deficiency of a key enzyme in muscle metabolism, the skeletal muscle-specific isoform of glycogen phosphorylase, "myophosphorylase," which is encoded by the PYGM gene. Here we review the main pathophy …
McArdle disease (glycogen storage disease type V) is caused by inherited deficiency of a key enzyme in muscle metabolism, the skeleta …
Development of Continuum of Care for McArdle disease: A practical tool for clinicians and patients.
Reason SL, Voermans N, Lucia A, Vissing J, Quinlivan R, Bhai S, Wakelin A. Reason SL, et al. Among authors: lucia a. Neuromuscul Disord. 2023 Jul;33(7):575-579. doi: 10.1016/j.nmd.2023.05.006. Epub 2023 Jun 12. Neuromuscul Disord. 2023. PMID: 37354872 Free article.
McArdle disease (glycogen storage disease type V; GSDV) is a rare genetic disease caused by the inability to break down glycogen in skeletal muscle due to a deficiency in myophosphorylase. ...
McArdle disease (glycogen storage disease type V; GSDV) is a rare genetic disease caused by the inability to break down glycogen in s …
78 results