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

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

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

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot–Marie–Tooth disease

(2014) Manoj P. Menezes et al.   NEUROMUSCULAR DISORDERS

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

Recent advances in nemaline myopathy

(2013) Norma B. Romero et al.   CURRENT OPINION IN NEUROLOGY

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

(2013) Josine Marieke de Winter et al.   JOURNAL OF MEDICAL 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

Thin-filament length correlates with fiber type in human skeletal muscle

(2011) David S. Gokhin et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

neb: a zebrafish model of nemaline myopathy due to nebulin mutation

(2011) W. R. Telfer et al.   Disease Models & Mechanisms

Leiomodin 1, a New Serum Response Factor-dependent Target Gene Expressed Preferentially in Differentiated Smooth Muscle Cells

(2011) Vivek Nanda et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Zebrafish models of collagen VI-related myopathies

(2010) W.R. Telfer et al.   HUMAN MOLECULAR GENETICS

Tropomodulin isoforms regulate thin filament pointed-end capping and skeletal muscle physiology

(2010) David S. Gokhin et al.   JOURNAL OF CELL BIOLOGY

Leiomodin-2 is an antagonist of tropomodulin-1 at the pointed end of the thin filaments in cardiac muscle

(2010) T. Tsukada et al.   JOURNAL OF CELL SCIENCE

Different Localizations and Cellular Behaviors of Leiomodin and Tropomodulin in Mature Cardiomyocyte Sarcomeres

(2010) Aneta Skwarek-Maruszewska et al.   MOLECULAR BIOLOGY OF THE CELL

A Nebulin Ruler Does Not Dictate Thin Filament Lengths

(2009) Angelica Castillo et al.   BIOPHYSICAL JOURNAL

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

(2009) C. A.C. Ottenheijm et al.   HUMAN MOLECULAR GENETICS

Leiomodin Is an Actin Filament Nucleator in Muscle Cells

(2008) D. Chereau et al.   SCIENCE