Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
about
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.Hypertrophic cardiomyopathy in childhoodAMP-activated protein kinase, stress responses and cardiovascular diseasesCBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutationsNew loci associated with kidney function and chronic kidney diseaseAdenylate kinase and AMP signaling networks: metabolic monitoring, signal communication and body energy sensingAt the crossroads: AMP-activated kinase and the LKB1 tumor suppressor link cell proliferation to metabolic regulationGlycogen metabolism in humansFLCN and AMPK Confer Resistance to Hyperosmotic Stress via Remodeling of Glycogen StoresDAF-16/FoxO directly regulates an atypical AMP-activated protein kinase gamma isoform to mediate the effects of insulin/IGF-1 signaling on aging in Caenorhabditis elegansSingle Cystathionine -Synthase Domain-Containing Proteins Modulate Development by Regulating the Thioredoxin System in ArabidopsisTargeting myocardial substrate metabolism in heart failure: potential for new therapiesDefining the budding yeast chromatin-associated interactome.Activation of yeast Snf1 and mammalian AMP-activated protein kinase by upstream kinases.The cardiac conduction systemShared genetic causes of cardiac hypertrophy in children and adultsEffects of AMP-activated protein kinase in cerebral ischemiaNotch signaling regulates murine atrioventricular conduction and the formation of accessory pathways.Abnormal cardiac development in the absence of heart glycogenDisturbance of cardiac gene expression and cardiomyocyte structure predisposes Mecp2-null mice to arrhythmiasHypertrophic cardiomyopathy and sudden cardiac deathAberrant activation of AMP-activated protein kinase remodels metabolic network in favor of cardiac glycogen storage.Multifaceted roles of miR-1s in repressing the fetal gene program in the heartWolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family.Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscleGenome wide expression analysis of CBS domain containing proteins in Arabidopsis thaliana (L.) Heynh and Oryza sativa L. reveals their developmental and stress regulationIdentification of a pleiotropic locus on chromosome 7q for a composite left ventricular wall thickness factor and body mass index: the HyperGEN StudySevere Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.LAMP2 shines a light on cardiomyopathy in an athlete.Effect of different γ-subunit isoforms on the regulation of AMPKA novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitationTransgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome.Dilated cardiomyopathy in mice deficient for the lysosomal cysteine peptidase cathepsin L.Metabolic crosstalk: molecular links between glycogen and lipid metabolism in obesity.SGLT1, a novel cardiac glucose transporter, mediates increased glucose uptake in PRKAG2 cardiomyopathyMuscle glycogenoses: an overview.Reversibility of PRKAG2 glycogen-storage cardiomyopathy and electrophysiological manifestations.Mutations in the gal83 glycogen-binding domain activate the snf1/gal83 kinase pathway by a glycogen-independent mechanismHypertrophic cardiomyopathy: diagnosis, risk stratification and treatment.Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy.
P2860
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P2860
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy
description
2002 nî lūn-bûn
@nan
2002 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Constitutively active AMP kina ...... ng hypertrophic cardiomyopathy
@ast
Constitutively active AMP kina ...... ng hypertrophic cardiomyopathy
@en
Constitutively active AMP kina ...... ng hypertrophic cardiomyopathy
@en-gb
Constitutively active AMP kina ...... ng hypertrophic cardiomyopathy
@nl
type
label
Constitutively active AMP kina ...... ng hypertrophic cardiomyopathy
@ast
Constitutively active AMP kina ...... ng hypertrophic cardiomyopathy
@en
Constitutively active AMP kina ...... ng hypertrophic cardiomyopathy
@en-gb
Constitutively active AMP kina ...... ng hypertrophic cardiomyopathy
@nl
prefLabel
Constitutively active AMP kina ...... ng hypertrophic cardiomyopathy
@ast
Constitutively active AMP kina ...... ng hypertrophic cardiomyopathy
@en
Constitutively active AMP kina ...... ng hypertrophic cardiomyopathy
@en-gb
Constitutively active AMP kina ...... ng hypertrophic cardiomyopathy
@nl
P2093
P2860
P356
P1476
Constitutively active AMP kina ...... ng hypertrophic cardiomyopathy
@en
P2093
Antonio R Perez-Atayde
Christine E Seidman
D Woodrow Benson
Elizabeth A Sparks
J G Seidman
Kate McGarry
Michael Arad
Ronald J Kanter
William J McKenna
P2860
P304
P356
10.1172/JCI14571
P407
P577
2002-02-01T00:00:00Z