Related references
Note: Only part of the references are listed.SPEG: a key regulator of cardiac calcium homeostasis
Hannah Campbell et al.
CARDIOVASCULAR RESEARCH (2021)
Interaction of the Joining Region in Junctophilin-2 With the L-Type Ca2+ Channel Is Pivotal for Cardiac Dyad Assembly and Intracellular Ca2+ Dynamics
Polina Gross et al.
CIRCULATION RESEARCH (2021)
Exploring Obscurin and SPEG Kinase Biology
Jennifer R. Fleming et al.
JOURNAL OF CLINICAL MEDICINE (2021)
Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review
Gang Zhang et al.
BMC PEDIATRICS (2021)
Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy
Mohammed Almannai et al.
CIRCULATION-GENOMIC AND PRECISION MEDICINE (2021)
SPEG: a key regulator of cardiac calcium homeostasis
Hannah Campbell et al.
CARDIOVASCULAR RESEARCH (2021)
Novel SPEG variant cause centronuclear myopathy in China
Jia Tang et al.
JOURNAL OF CLINICAL LABORATORY ANALYSIS (2020)
Striated muscle-specific serine/threonine-protein kinase beta segregates with high versus low responsiveness to endurance exercise training
Denis Kusic et al.
PHYSIOLOGICAL GENOMICS (2020)
A PKB-SPEG signaling nexus links insulin resistance with diabetic cardiomyopathy by regulating calcium homeostasis
Chao Quan et al.
NATURE COMMUNICATIONS (2020)
Loss of SPEG Inhibitory Phosphorylation of Ryanodine Receptor Type-2 Promotes Atrial Fibrillation
Hannah M. Campbell et al.
CIRCULATION (2020)
Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation
Qifei Li et al.
AMERICAN JOURNAL OF PATHOLOGY (2020)
A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy
Aviva Levitas et al.
PLOS GENETICS (2020)
SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins
Shiyu Luo et al.
HUMAN MOLECULAR GENETICS (2020)
SPEG Controls Calcium Reuptake Into the Sarcoplasmic Reticulum Through Regulating SERCA2a by Its Second Kinase-Domain
Chao Quan et al.
CIRCULATION RESEARCH (2019)
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations
Anita E. Qualls et al.
MUSCLE & NERVE (2019)
SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling
Virginia Huntoon et al.
HUMAN MOLECULAR GENETICS (2018)
Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice
Hichem Tasfaout et al.
MOLECULAR THERAPY (2018)
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction
Heinz Jungbluth et al.
NATURE REVIEWS NEUROLOGY (2018)
Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart Failure
Chang Shu et al.
FRONTIERS IN PHYSIOLOGY (2018)
The Satellite Cell Niche Regulates the Balance between Myoblast Differentiation and Self-Renewal via p53
Valentina Flamini et al.
STEM CELL REPORTS (2018)
A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy
Haicui Wang et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2018)
Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease
Mo Zhao et al.
NEUROTHERAPEUTICS (2018)
SPEG (Striated Muscle Preferentially Expressed Protein Kinase) Is Essential for Cardiac Function by Regulating Junctional Membrane Complex Activity
Ann P. Quick et al.
CIRCULATION RESEARCH (2017)
Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation
Belinda S. Cowling et al.
JOURNAL OF CLINICAL INVESTIGATION (2017)
Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy
Haicui Wang et al.
NEUROMUSCULAR DISORDERS (2017)
Myopathology in congenital myopathies
C. A. Sewry et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2017)
Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice
Hichem Tasfaout et al.
NATURE COMMUNICATIONS (2017)
Making muscle: skeletal myogenesis in vivo and in vitro
Jerome Chal et al.
DEVELOPMENT (2017)
Cardiac myosin light chain is phosphorylated by Ca2+/calmodulin-dependent and -independent kinase activities
Audrey N. Chang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)
β-Catenin Activation in Muscle Progenitor Cells Regulates Tissue Repair
Anja Rudolf et al.
CELL REPORTS (2016)
Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation
Yu-Han Chin et al.
HUMAN MOLECULAR GENETICS (2015)
Rescue of neonatal cardiac dysfunction in mice by administration of cardiac progenitor cells in utero
Xiaoli Liu et al.
NATURE COMMUNICATIONS (2015)
SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
Pankaj B. Agrawal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
Johann Boehm et al.
BRAIN (2014)
The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish
Elizabeth M. Gibbs et al.
DISEASE MODELS & MECHANISMS (2014)
Dynamin 2 the rescue for centronuclear myopathy
Alexis R. Demonbreun et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy
Belinda S. Cowling et al.
JOURNAL OF CLINICAL INVESTIGATION (2014)
Triadopathies: An Emerging Class of Skeletal Muscle Diseases
James J. Dowling et al.
NEUROTHERAPEUTICS (2014)
Obscurins: Goliaths and Davids Take over Non-Muscle Tissues
Maegen A. Ackermann et al.
PLOS ONE (2014)
The junctophilin family of proteins: from bench to bedside
Andrew P. Landstrom et al.
TRENDS IN MOLECULAR MEDICINE (2014)
Pathogenic mechanisms in centronuclear myopathies
Heinz Jungbluth et al.
FRONTIERS IN AGING NEUROSCIENCE (2014)
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities
Matthew Henderson et al.
ACTA NEUROPATHOLOGICA (2013)
SERCA2a: a prime target for modulation of cardiac contractility during heart failure
Woo Jin Park et al.
BMB REPORTS (2013)
Junctophilin-2 is necessary for T-tubule maturation during mouse heart development
Julia O. Reynolds et al.
CARDIOVASCULAR RESEARCH (2013)
The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies
Barbara Royer et al.
EMBO REPORTS (2013)
Structural and functional diversity in the activity and regulation of DAPK-related protein kinases
Koen Temmerman et al.
FEBS JOURNAL (2013)
Muscle-specific function of the centronuclear myopathy and CharcotMarieTooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves
Elisa Tinelli et al.
HUMAN MOLECULAR GENETICS (2013)
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
Ozge Ceyhan-Birsoy et al.
NEUROLOGY (2013)
Muscle Satellite Cells Are Primed for Myogenesis but Maintain Quiescence with Sequestration of Myf5 mRNA Targeted by microRNA-31 in mRNP Granules
Colin G. Crist et al.
CELL STEM CELL (2012)
Congenital Myopathies: An Update
Jessica R. Nance et al.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2012)
Colonization of the Satellite Cell Niche by Skeletal Muscle Progenitor Cells Depends on Notch Signals
Dominique Broehl et al.
DEVELOPMENTAL CELL (2012)
Large Isoforms of UNC-89 (Obscurin) Are Required for Muscle Cell Architecture and Optimal Calcium Release in Caenorhabditis elegans
Patrick M. Spooner et al.
PLOS ONE (2012)
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
Anne Toussaint et al.
ACTA NEUROPATHOLOGICA (2011)
Disrupted Junctional Membrane Complexes and Hyperactive Ryanodine Receptors After Acute Junctophilin Knockdown in Mice
Ralph J. van Oort et al.
CIRCULATION (2011)
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
Karim Hnia et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
Charlotte Fugier et al.
NATURE MEDICINE (2011)
Cytoskeletal protein kinases: titin and its relations in mechanosensing
Mathias Gautel
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2011)
T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases
Lama Al-Qusairi et al.
SKELETAL MUSCLE (2011)
RYR1 Mutations Are a Common Cause of Congenital Myopathies with Central Nuclei
J. M. Wilmshurst et al.
ANNALS OF NEUROLOGY (2010)
Centronuclear myopathies: A widening concept
Norma Beatriz Romero
NEUROMUSCULAR DISORDERS (2010)
Wnt7a Activates the Planar Cell Polarity Pathway to Drive the Symmetric Expansion of Satellite Stem Cells
Fabien Le Grand et al.
CELL STEM CELL (2009)
Developing Hearts Need Their SPEG
Mark A. Sussman
CIRCULATION (2009)
Disruption of Striated Preferentially Expressed Gene Locus Leads to Dilated Cardiomyopathy in Mice
Xiaoli Liu et al.
CIRCULATION (2009)
Obscurin determines the architecture of the longitudinal sarcoplasmic reticulum
Stephan Lange et al.
JOURNAL OF CELL SCIENCE (2009)
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
Lama Al-Qusairi et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy
James J. Dowling et al.
PLOS GENETICS (2009)
A temporal switch from Notch to Wnt signaling in muscle stem cells is necessary for normal adult myogenesis
Andrew S. Brack et al.
CELL STEM CELL (2008)
Centronuclear (myotubular) myopathy
Heinz Jungbluth et al.
ORPHANET JOURNAL OF RARE DISEASES (2008)
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
Anne-Sophie Nicot et al.
NATURE GENETICS (2007)
Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin
Sarah B. Geisler et al.
GENOMICS (2007)
Obscurin modulates the assembly and organization of sarcomeres and the sarcoplasmic reticulum
Aikaterini Kontrogianni-Konstantopoulos et al.
FASEB JOURNAL (2006)
The human desmin locus: Gene organization and LCR-mediated transcriptional control
Jennifer L. Y. Tam et al.
GENOMICS (2006)
Mutations in dynamin 2 cause dominant centronuclear myopathy
M Bitoun et al.
NATURE GENETICS (2005)
Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages
H Bär et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
X-linked myotubular and centronuclear myopathies
CR Pierson et al.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2005)
A common somitic origin for embryonic muscle progenitors and satellite cells
J Gros et al.
NATURE (2005)
A Pax3/Pax7-dependent population of skeletal muscle progenitor cells
F Relaix et al.
NATURE (2005)
Pax3/Pax7 mark a novel population of primitive myogenic cells during development
L Kassar-Duchossoy et al.
GENES & DEVELOPMENT (2005)
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells
H Tronchère et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Orthologous relationship of obscurin and Unc-89: phylogeny of a novel family of tandem myosin light chain kinases
SB Sutter et al.
DEVELOPMENT GENES AND EVOLUTION (2004)
Mechanisms of disease: Intermediate filament proteins and their associated diseases
MB Omary et al.
NEW ENGLAND JOURNAL OF MEDICINE (2004)
Cellular and molecular regulation of muscle regeneration
SBP Charge et al.
PHYSIOLOGICAL REVIEWS (2004)
Wnt signaling induces the myogenic specification of resident CD45+ adult stem cells during muscle regeneration
A Polesskaya et al.
CELL (2003)
The role of tropomyosin in the regulation of myocardial contraction and relaxation
BM Wolska et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2003)
Ryanodine receptor calcium release channels
M Fill et al.
PHYSIOLOGICAL REVIEWS (2002)
Dedicated myosin light chain kinases with diverse cellular functions
KE Kamm et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia
PJ Laitinen et al.
CIRCULATION (2001)
Striated muscle preferentially expressed genes α and β are two serine/threonine protein kinases derived from the same gene as the aortic preferentially expressed gene-1
CM Hsieh et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)
Drosophila stretchin-MLCK is a novel member of the Titin/Myosin light chain kinase family
MB Champagne et al.
JOURNAL OF MOLECULAR BIOLOGY (2000)
Myosin light chain kinase mediates sarcomere organization during cardiac hypertrophy in vitro
H Aoki et al.
NATURE MEDICINE (2000)
Excitation-contraction coupling in skeletal muscle: Comparisons with cardiac muscle
GD Lamb
CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY (2000)
Share Paper
