Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

Safety, tolerability and pharmacodynamics of a skeletal muscle activator in amyotrophic lateral sclerosis

(2012) Jeremy Shefner et al.   Amyotrophic Lateral Sclerosis

KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase

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

Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseases

(2012) Alan J Russell et al.   NATURE MEDICINE

Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy

(2011) Julien Ochala et al.   FASEB JOURNAL

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy

(2011) C. A. C. Ottenheijm et al.   HUMAN MOLECULAR GENETICS

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy

(2011) Michael W Lawlor et al.   Skeletal Muscle

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

Nebulin regulates actin filament lengths by a stabilization mechanism

(2010) Christopher T. Pappas et al.   JOURNAL OF CELL BIOLOGY

Differential splicing of the large sarcomeric protein nebulin during skeletal muscle development

(2010) Danielle Buck et al.   JOURNAL OF STRUCTURAL BIOLOGY

Lifting the Nebula: Novel Insights into Skeletal Muscle Contractility

(2010) Coen A. C. Ottenheijm et al.   PHYSIOLOGY

Reduced thin filament length in nebulin-knockout skeletal muscle alters isometric contractile properties

(2009) David S. Gokhin et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

A Nebulin Ruler Does Not Dictate Thin Filament Lengths

(2009) Angelica Castillo et al.   BIOPHYSICAL JOURNAL

Nebulin plays a direct role in promoting strong actin-myosin interactions

(2009) Marie-Louise Bang et al.   FASEB 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

Nebulin Alters Cross-bridge Cycling Kinetics and Increases Thin Filament Activation

(2009) Murali Chandra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Altered Contractility of Skeletal Muscle in Mice Deficient in Titin’s M-Band Region

(2009) Coen A.C. Ottenheijm et al.   JOURNAL OF MOLECULAR BIOLOGY

Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2)

(2009) Coen A.C. Ottenheijm et al.   JOURNAL OF STRUCTURAL BIOLOGY

The exon 55 deletion in the nebulin gene – One single founder mutation with world-wide occurrence

(2009) Vilma-Lotta Lehtokari et al.   NEUROMUSCULAR DISORDERS

Thin filament length regulation in striated muscle sarcomeres: Pointed-end dynamics go beyond a nebulin ruler

(2008) R LITTLEFIELD et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY