Mutations in the gamma2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

Prevalence of Hypertrophic Cardiomyopathy in a General Population of Young Adults

1995 • 2,098 citations

The AMP‐Activated Protein Kinase

1997 • 1,313 citations

The Management of Hypertrophic Cardiomyopathy

1997 • 1,023 citations

α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere

1994 • 1,008 citations

Myocardial Phosphocreatine-to-ATP Ratio Is a Predictor of Mortality in Patients With Dilated Cardiomyopathy

1997 • 733 citations

A Mutation in PRKAG3 Associated with Excess Glycogen Content in Pig Skeletal Muscle

2000 • 724 citations

Characterization of AMP-activated protein kinase γ-subunit isoforms and their role in AMP binding

2000 • 605 citations

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy

1997 • 568 citations

The structure of a domain common to archaebacteria and the homocystinuria disease protein

1997 • 521 citations

Dealing with energy demand: the AMP-activated protein kinase

1999 • 516 citations

AMP-activated protein kinase: greater AMP dependence, and preferential nuclear localization, of complexes containing the α2 isoform

1998 • 431 citations

Familial Hypertrophic Cardiomyopathy

1998 • 427 citations

Characterization of the Role of AMP-Activated Protein Kinase in the Regulation of Glucose-Activated Gene Expression Using Constitutively Active and Dominant Negative Forms of the Kinase

2000 • 410 citations

Glucose repression/derepression in budding yeast: SNF1 protein kinase is activated by phosphorylation under derepressing conditions, and this correlates with a high AMP:ATP ratio

1996 • 375 citations

Structural Analysis of the Titin Gene in Hypertrophic Cardiomyopathy: Identification of a Novel Disease Gene

1999 • 326 citations

Arrhythmias and Conduction Defects as Presenting Symptoms of Fatty Acid Oxidation Disorders in Children

1999 • 298 citations

Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy.

1998 • 262 citations

Inherited and de novo Mutations in the Cardiac Actin Gene Cause Hypertrophic Cardiomyopathy

2000 • 220 citations

Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.

1995 • 218 citations

Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy

1999 • 189 citations

Abnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

1995 • 176 citations

Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: Insights into disease pathogenesis and troponin function

1998 • 172 citations

A Mutant Tropomyosin That Causes Hypertrophic Cardiomyopathy Is Expressed In Vivo and Associated With an Increased Calcium Sensitivity

1998 • 172 citations

A cohort study of childhood hypertrophic cardiomyopathy

1999 • 163 citations

Altered Regulatory Properties of Human Cardiac Troponin I Mutants That Cause Hypertrophic Cardiomyopathy

2000 • 152 citations

Recent advances in the molecular pathogenesis of Friedreich ataxia

2000 • 148 citations

Crystal structure of human type II inosine monophosphate dehydrogenase: Implications for ligand binding and drug design

1999 • 141 citations

Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.

1994 • 127 citations

Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

1996 • 99 citations

Syncope in hypertrophic cardiomyopathy.

1982 • 74 citations

Molecular Cloning, Genomic Organization, and Mapping of PRKAG2, a Heart Abundant γ2 Subunit of 5′-AMP-Activated Protein Kinase, to Human Chromosome 7q36

2000 • 61 citations

Clinical heterogeneity in respiratory chain complex III deficiency in childhood

1997 • 59 citations

Identification of mtDNA Mutation in a Pedigree with Gestational Diabetes, Deafness, Wolff-Parkinson-White Syndrome and Placenta accreta

2000 • 31 citations

Prevalence of Japanese dialysis patients with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNALeu(UUR) gene

2000 • 16 citations