Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy

Exploring Obscurin and SPEG Kinase Biology

(2021) Jennifer R. Fleming et al.   Journal of Clinical Medicine

Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review

(2021) Gang Zhang et al.   BMC Pediatrics

Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux

(2021) Gülsüm Kayman Kürekçi et al.   Scientific Reports

Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy

(2021) Mohammed Almannai et al.   Circulation-Genomic and Precision Medicine

Molecular and cellular basis of genetically inherited skeletal muscle disorders

(2021) James J. Dowling et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The intragenic microRNA miR199A1 in the dynamin 2 gene contributes to the pathology of X-linked centronuclear myopathy

(2020) Xin Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy

(2020) Aviva Levitas et al.   PLoS Genetics

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin

(2020) Xènia Massana Muñoz et al.   JCI Insight

SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins

(2020) Shiyu Luo et al.   HUMAN MOLECULAR GENETICS

Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish

(2019) Mo Zhao et al.   HUMAN MOLECULAR GENETICS

Novel SPEG variant cause centronuclear myopathy in China

(2019) Jia Tang et al.   JOURNAL OF CLINICAL LABORATORY ANALYSIS

Striated muscle-specific serine/threonine-protein kinase beta segregates with high versus low responsiveness to endurance exercise training

(2019) Denis Kusić et al.   PHYSIOLOGICAL GENOMICS

SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling

(2018) Virginia Huntoon et al.   HUMAN MOLECULAR GENETICS

Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

(2018) Heinz Jungbluth et al.   Nature Reviews Neurology

A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy

(2018) Haicui Wang et al.   Acta Neuropathologica Communications

SPEG Controls Calcium Re-Uptake into the Sarcoplasmic Reticulum Through Regulating SERCA2a by Its Second Kinase-Domain

(2018) Chao Quan et al.   CIRCULATION RESEARCH

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations

(2018) Anita E. Qualls et al.   MUSCLE & NERVE

Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation

(2017) Belinda S. Cowling et al.   JOURNAL OF CLINICAL INVESTIGATION

Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy

(2017) Haicui Wang et al.   NEUROMUSCULAR DISORDERS

NO-sGC Pathway Modulates Ca2+ Release and Muscle Contraction in Zebrafish Skeletal Muscle

(2017) Zhou Xiyuan et al.   Frontiers in Physiology

SPEG (Striated Muscle Preferentially Expressed Protein Kinase) Is Essential for Cardiac Function by Regulating Junctional Membrane Complex ActivityNovelty and Significance

(2016) Ann P. Quick et al.   CIRCULATION RESEARCH

aura(mid1ip1l) regulates the cytoskeleton at the zebrafish egg-to-embryo transition

(2016) Celeste Eno et al.   DEVELOPMENT

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models

(2016) Nesrin Sabha et al.   JOURNAL OF CLINICAL INVESTIGATION

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

(2016) Michael W. Lawlor et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Three residues in the luminal domain of triadin impact on Trisk 95 activation of skeletal muscle ryanodine receptors

(2016) E. Wium et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Review of RyR1 pathway and associated pathomechanisms

(2016) Jessica W. Witherspoon et al.   Acta Neuropathologica Communications

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function

(2015) Tamar E. Sztal et al.   ACTA NEUROPATHOLOGICA

IBS: an illustrator for the presentation and visualization of biological sequences: Fig. 1.

(2015) Wenzhong Liu et al.   BIOINFORMATICS

Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation

(2015) Yu-Han Chin et al.   HUMAN MOLECULAR GENETICS

SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

(2014) Pankaj B. Agrawal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

(2014) Belinda S. Cowling et al.   JOURNAL OF CLINICAL INVESTIGATION

CHOPCHOP: a CRISPR/Cas9 and TALEN web tool for genome editing

(2014) Tessa G. Montague et al.   NUCLEIC ACIDS RESEARCH

BIN1/M-Amphiphysin2 induces clustering of phosphoinositides to recruit its downstream partner dynamin

(2014) Laura Picas et al.   Nature Communications

Posttranslational modifications of desmin and their implication in biological processes and pathologies

(2013) Daniel L. Winter et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Analysis of Embryonic and Larval Zebrafish Skeletal Myofibers from Dissociated Preparations

(2013) Eric J. Horstick et al.   Jove-Journal of Visualized Experiments

Congenital Myopathies: An Update

(2012) Jessica R. Nance et al.   Current Neurology and Neuroscience Reports

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

Prevalence of congenital myopathies in a representative pediatric united states population

(2011) Kimberly Amburgey et al.   ANNALS OF NEUROLOGY

Mice lacking microRNA 133a develop dynamin 2–dependent centronuclear myopathy

(2011) Ning Liu et al.   JOURNAL OF CLINICAL INVESTIGATION

Centronuclear Myopathies

(2011) Norma B. Romero et al.   Seminars in Pediatric Neurology

T-tubule biogenesis and triad formation in skeletal muscle and implication in human diseases

(2011) Lama Al-Qusairi et al.   Skeletal Muscle

RYR1 mutations are a common cause of congenital myopathies with central nuclei

(2010) J.M. Wilmshurst et al.   ANNALS OF NEUROLOGY

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle

(2010) Karim Hnia et al.   JOURNAL OF CLINICAL INVESTIGATION

Calsequestrin, triadin and more: the molecules that modulate calcium release in cardiac and skeletal muscle

(2010) Eduardo Ríos et al.   JOURNAL OF PHYSIOLOGY-LONDON

Mitochondrial alterations in dynamin 2-related centronuclear myopathy

(2009) Edmar Zanoteli et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Disruption of Striated Preferentially Expressed Gene Locus Leads to Dilated Cardiomyopathy in Mice

(2009) Xiaoli Liu et al.   CIRCULATION

Minor sarcoplasmic reticulum membrane components that modulate excitation-contraction coupling in striated muscles

(2009) Susan Treves et al.   JOURNAL OF PHYSIOLOGY-LONDON

Centronuclear (myotubular) myopathy

(2008) Heinz Jungbluth et al.   Orphanet Journal of Rare Diseases

Membrane Traffic and Muscle: Lessons from Human Disease

(2008) James J. Dowling et al.   TRAFFIC

High-resolution in situ hybridization to whole-mount zebrafish embryos

(2007) Christine Thisse et al.   Nature Protocols