Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy

Reactive oxygen species upregulate expression of muscle atrophy-associated ubiquitin ligase Cbl-b in rat L6 skeletal muscle cells

(2018) Takayuki Uchida et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Force Generation via β-Cardiac Myosin, Titin, and α-Actinin Drives Cardiac Sarcomere Assembly from Cell-Matrix Adhesions

(2018) Anant Chopra et al.   DEVELOPMENTAL CELL

Cullin 3-Based Ubiquitin Ligases as Master Regulators of Mammalian Cell Differentiation

(2018) Wolfgang Dubiel et al.   TRENDS IN BIOCHEMICAL SCIENCES

RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes

(2018) Alexis H. Bennett et al.   PLoS Genetics

Myoblast fusion confusion: the resolution begins

(2018) Srihari C. Sampath et al.   Skeletal Muscle

Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis

(2018) Anna Pakula et al.   HUMAN MOLECULAR GENETICS

The RNA Surveillance Factor UPF1 Represses Myogenesis via Its E3 Ubiquitin Ligase Activity

(2017) Qing Feng et al.   MOLECULAR CELL

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy

(2017) Grażyna T. Truszkowska et al.   Scientific Reports

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination

(2017) Andres Ramirez-Martinez et al.   eLife

Mutation-specific effects on thin filament length in thin filament myopathy

(2016) Josine M. de Winter et al.   ANNALS OF NEUROLOGY

Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy

(2016) Francesca D’Avila et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy

(2016) Stefania Assereto et al.   LABORATORY INVESTIGATION

Nemaline myopathies: State of the art

(2016) E. Malfatti et al.   REVUE NEUROLOGIQUE

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

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

NEDD4 Regulates PAX7 Levels Promoting Activation of the Differentiation Program in Skeletal Muscle Precursors

(2015) Francisco Bustos et al.   STEM CELLS

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)

(2014) Nisha Patel et al.   HUMAN MOLECULAR GENETICS

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

(2014) Stefania Di Costanzo et al.   HUMAN MOLECULAR GENETICS

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

(2014) Ankit Garg et al.   JOURNAL OF CLINICAL INVESTIGATION

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

(2014) Michaela Yuen et al.   JOURNAL OF CLINICAL INVESTIGATION

Perilous journey: a tour of the ubiquitin–proteasome system

(2014) Gary Kleiger et al.   TRENDS IN CELL BIOLOGY

Kelch proteins: emerging roles in skeletal muscle development and diseases

(2014) Vandana A Gupta et al.   Skeletal Muscle

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

(2013) Gianina Ravenscroft et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

(2013) Vandana A. Gupta et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores

(2012) Karen Majczenko et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase

(2012) Nyamkhishig Sambuughin et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Myoblast fusion: lessons from flies and mice

(2012) S. M. Abmayr et al.   DEVELOPMENT

A Combined Laser Microdissection and Mass Spectrometry Approach Reveals New Disease Relevant Proteins Accumulating in Aggregates of Filaminopathy Patients

(2012) Rudolf A. Kley et al.   MOLECULAR & CELLULAR PROTEOMICS

Clinical Approach to the Diagnosis of Congenital Myopathies

(2011) Kathryn N. North   Seminars in Pediatric Neurology

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

(2010) Nyamkhishig Sambuughin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expression and alternative splicing of N-RAP during mouse skeletal muscle development

(2008) Shajia Lu et al.   CELL MOTILITY AND THE CYTOSKELETON