Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy

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

(2022) Karla G. Espinosa et al.   Disease Models & Mechanisms

X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition

(2022) Jonathan R. Volpatti et al.   ACTA NEUROPATHOLOGICA

Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility

(2022) Yukari Endo et al.   Nature Communications

Live imaging and conditional disruption of native PCP activity using endogenously tagged zebrafish sfGFP-Vangl2

(2022) Maria Jussila et al.   Nature Communications

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy

(2021) Sarah J Smith et al.   HUMAN MOLECULAR GENETICS

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

(2020) Gina Ravenscroft et al.   JOURNAL OF MEDICAL GENETICS

CHOPCHOP v3: expanding the CRISPR web toolbox beyond genome editing

(2019) Kornel Labun et al.   NUCLEIC ACIDS RESEARCH

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

(2019) Mo Zhao et al.   HUMAN MOLECULAR GENETICS

A rapid and nondestructive protocol for whole-mount bone staining of small fish and Xenopus

(2018) Hiromi Sakata-Haga et al.   Scientific Reports

Congenital muscle dystrophy and diet consistency affect mouse skull shape differently

(2017) Alexander Spassov et al.   JOURNAL OF ANATOMY

The Ca2+ influx through the mammalian skeletal muscle dihydropyridine receptor is irrelevant for muscle performance

(2017) Anamika Dayal et al.   Nature Communications

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

(2016) Vanessa Schartner et al.   ACTA NEUROPATHOLOGICA

A high-throughput functional genomics workflow based on CRISPR/Cas9-mediated targeted mutagenesis in zebrafish

(2016) Gaurav K Varshney et al.   Nature Protocols

Stac3 has a direct role in skeletal muscle-type excitation–contraction coupling that is disrupted by a myopathy-causing mutation

(2016) Alexander Polster et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Congenital myopathy results from misregulation of a muscle Ca2+channel by mutant Stac3

(2016) Jeremy W. Linsley et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ca2+Binding/Permeation via Calcium Channel, CaV1.1, Regulates the Intracellular Distribution of the Fatty Acid Transport Protein, CD36, and Fatty Acid Metabolism

(2015) Dimitra K. Georgiou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Finite element modelling predicts changes in joint shape and cell behaviour due to loss of muscle strain in jaw development

(2015) Lucy H. Brunt et al.   JOURNAL OF BIOMECHANICS

Ca2+ permeation and/or binding to CaV1.1 fine-tunes skeletal muscle Ca2+ signaling to sustain muscle function

(2015) Chang Lee et al.   Skeletal Muscle

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

(2015) Jesse M. Hunter et al.   Molecular Genetics & Genomic Medicine

Stac adaptor proteins regulate trafficking and function of muscle and neuronal L-type Ca2+channels

(2014) Alexander Polster et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Approach to the diagnosis of congenital myopathies

(2013) Kathryn N. North et al.   NEUROMUSCULAR DISORDERS

Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy

(2013) Eric J. Horstick et al.   Nature Communications

Analysis of Embryonic and Larval Zebrafish Skeletal Myofibers from Dissociated Preparations

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

A calcium channel mutant mouse model of hypokalemic periodic paralysis

(2012) Fenfen Wu et al.   JOURNAL OF CLINICAL INVESTIGATION

Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage

(2011) Benjamin Yuen et al.   FASEB JOURNAL

Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel

(2011) Zhen Zhi Tang et al.   HUMAN MOLECULAR GENETICS

Junctophilin 1 and 2 Proteins Interact with the L-type Ca2+Channel Dihydropyridine Receptors (DHPRs) in Skeletal Muscle

(2011) Lucia Golini et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Non-Ca2+-conducting Ca2+ channels in fish skeletal muscle excitation-contraction coupling

(2010) J. Schredelseker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA