Hypertrophic obstructive cardiomyopathy

J Veselka, NS Anavekar, P Charron - The Lancet, 2017 - thelancet.com
Hypertrophic obstructive cardiomyopathy is an inherited myocardial disease defined by
cardiac hypertrophy (wall thickness≥ 15 mm) that is not explained by abnormal loading …

Regulation of contraction in striated muscle

AM Gordon, E Homsher, M Regnier - Physiological reviews, 2000 - journals.physiology.org
Ca2+ regulation of contraction in vertebrate striated muscle is exerted primarily through
effects on the thin filament, which regulate strong cross-bridge binding to actin. Structural …

Structure of the actin-myosin complex and its implications for muscle contraction

I Rayment, HM Holden, M Whittaker, CB Yohn… - Science, 1993 - science.org
Muscle contraction consists of a cyclical interaction between myosin and actin driven by the
concomitant hydrolysis of adenosine triphosphate (ATP). A model for the rigor complex of F …

Molecular diversity of myofibrillar proteins: gene regulation and functional significance

S Schiaffino, C Reggiani - Physiological reviews, 1996 - journals.physiology.org
Myofibrillar proteins exist as multiple isoforms that derive from multigene (isogene) families.
Additional isoforms, including products of tropomyosin, myosin light chain 1 fast, troponin T …

Cryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolution

J Ecken, SM Heissler, S Pathan-Chhatbar, DJ Manstein… - Nature, 2016 - nature.com
The interaction of myosin with actin filaments is the central feature of muscle contraction and
cargo movement along actin filaments of the cytoskeleton. The energy for these movements …

Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy

JG Crilley, EA Boehm, E Blair, B Rajagopalan… - Journal of the American …, 2003 - jacc.org
Objectives: We investigated cardiac energetics in subjects with mutations in three different
familial hypertrophic cardiomyopathy (HCM) disease genes, some of whom were …

Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history

CE Seidman, JG Seidman - Circulation research, 2011 - Am Heart Assoc
This review provides an historical and personal perspective on the discovery of genetic
causes for hypertrophic cardiomyopathy (HCM). Extraordinary insights by physicians who …

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

K Poetter, HE Jiang, S Hassanzadeh, SR Master… - Nature …, 1996 - nature.com
The muscle myosins are hexomeric proteins consisting of two heavy chains and two pairs of
light chains, the latter called essential (ELC) and regulatory (RLC). The light chains stabilize …

The mammalian myosin heavy chain gene family

A Weiss, LA Leinwand - Annual review of cell and …, 1996 - annualreviews.org
▪ Abstract Myosin is a highly conserved, ubiquitous protein found in all eukaryotic cells,
where it provides the motor function for diverse movements such as cytokinesis …

Familial hypertrophic cardiomyopathy: from mutations to functional defects

G Bonne, L Carrier, P Richard, B Hainque… - Circulation …, 1998 - Am Heart Assoc
Hypertrophic cardiomyopathy is characterized by left and/or right ventricular hypertrophy,
which is usually asymmetric and involves the interventricular septum. Typical morphological …