Hypertrophic cardiomyopathy mutations in the gamma 2 subunit of AMP-activated kinase suggest a central role of energy compromise in disease pathogenesis

Hypertrophic cardiomyopathy mutations in the gamma 2 subunit of AMP-activated kinase suggest a central role of energy compromise in disease pathogenesis

Bibliographic Details
Main Authors:	Blair, E, Redwood, C, Oliveira, M, Ehtisham, J, Ostman-Smith, I, Watkins, H
Format:	Journal article
Published:	2001

Similar Items

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.
by: Blair, E, et al.
Published: (2001)

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.
by: Blair, E, et al.
Published: (2001)

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.
by: Oliveira, S, et al.
Published: (2003)

Mutation analysis of genes encoding Subunits of AMP-activated protein kinase (AMPK) in inherited cardiomyopathies
by: Oliveira, M, et al.
Published: (2002)

Delineating the role of adenosine monophosphate (AMP)-activated protein kinase (AMP) gamma 2 subunit in hypertrophic cardiomyopathy (HCM)
by: Grignani, R, et al.
Published: (2005)

Mutation analysis of genes encoding subunits of AMP-activated protein kinase (AMPK) in inherited cardiomyopathies
by: Blair, E, et al.
Published: (2002)

Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
by: Blair, E, et al.
Published: (2000)

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.
by: Blair, E, et al.
Published: (2003)

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
by: Blair, E, et al.
Published: (2001)

Metabolic perturbations in the pathogenesis of hypertrophic cardiomyopathy
by: Ashrafian, H, et al.
Published: (2005)

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.
by: Ashrafian, H, et al.
Published: (2003)

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
by: Blair, E, et al.
Published: (2002)

Functional analysis of hypertrophic cardiomyopathy missense mutations in the light meromyosin region of beta myosin heavy chain
by: Redwood, C, et al.
Published: (2003)

Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
by: Abdulrazzak, H, et al.
Published: (2001)

Effects of hypertrophic cardiomyopathy mutations in troponin I on contractility of skinned cardiac muscle fibres
by: Burton, D, et al.
Published: (2002)

Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
by: Carballo, S, et al.
Published: (2003)

Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
by: Carballo, S, et al.
Published: (2005)

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
by: Elliott, K, et al.
Published: (2000)

Linked genetic modifiers in hypertrophic cardiomyopathy
by: Ektisham, J, et al.
Published: (2004)

Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
by: Robinson, P, et al.
Published: (2002)

HYPERTROPHIC CARDIOMYOPATHY: GENETIC ALTERATIONS, PATHOGENESIS AND PATHOPHYSIOLOGY
by: N. T. Vatutin, et al.
Published: (2014-05-01)

Hypertrophic Cardiomyopathy: From Phenotype and Pathogenesis to Treatment
by: Zeyi Cheng, et al.
Published: (2021-10-01)

Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
by: Carballo, S, et al.
Published: (2005)

Sudden death in hypertrophic cardiomyopathy.
by: Watkins, H
Published: (2000)

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations.
by: Hudsmith, L, et al.
Published: (2006)

Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy.
by: Crilley, J, et al.
Published: (2003)

Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
by: Carballo, S, et al.
Published: (2005)

Myocardial dysfunction in hypertrophic cardiomyopathy.
by: Ashrafian, H, et al.
Published: (2001)

Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.
by: Robinson, P, et al.
Published: (2007)

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
by: Toepfer, C, et al.
Published: (2019)

Altered inhibitory and troponin C-binding activities in cardiac troponin I mutants known to cause hypertrophic cardiomyopathy
by: Elliott, K, et al.
Published: (2000)

Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy
by: Marko Ušaj, et al.
Published: (2022-02-01)

Myocardial Fibrosis in the Pathogenesis, Diagnosis, and Treatment of Hypertrophic Cardiomyopathy
by: Zeyi Cheng, et al.
Published: (2021-04-01)

Is DNA testing for hypertrophic cardiomyopathy cost-effective?
by: Wordsworth, S, et al.
Published: (2006)

What Aspects of Phenotype Determine Risk for Sudden Cardiac Death in Pediatric Hypertrophic Cardiomyopathy?
by: Ingegerd Östman-Smith
Published: (2022-04-01)

A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance
by: Carballo, S, et al.
Published: (2004)

Myosin sequestration regulates sarcomere function, cardiomyocyte energetics, and metabolism, informing the pathogenesis of hypertrophic cardiomyopathy
by: Toepfer, CN, et al.
Published: (2020)

Two mutations in human cardiac troponin I known to cause hypertrophic cardiomyopathy have different effects on cardiac muscle contraction
by: Burton, D, et al.
Published: (2000)

Mavacamten rescues increased myofilament calcium sensitivity and dysregulation of Ca2+ flux caused by thin filament hypertrophic cardiomyopathy mutations
by: Sparrow, AJ, et al.
Published: (2020)

Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility.
by: Burton, D, et al.
Published: (2002)