Gene Expression Profiling in Tibial Muscular Dystrophy Reveals Unfolded Protein Response and Altered Autophagy

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

(2013) O. Ceyhan-Birsoy et al.   NEUROLOGY

IRE1: ER stress sensor and cell fate executor

(2013) Yani Chen et al.   TRENDS IN CELL BIOLOGY

A Thrombospondin-Dependent Pathway for a Protective ER Stress Response

(2012) Jeffrey M. Lynch et al.   CELL

mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy

(2012) J. K. Ching et al.   HUMAN MOLECULAR GENETICS

Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system

(2012) Hemmo Meyer et al.   NATURE CELL BIOLOGY

Clinical Utility of LC3 and p62 Immunohistochemistry in Diagnosis of Drug-Induced Autophagic Vacuolar Myopathies: A Case-Control Study

(2012) Han S. Lee et al.   PLoS One

Endoplasmic reticulum stress response in P104L mutant caveolin-3 transgenic mice

(2011) Atsushi Kuga et al.   HUMAN MOLECULAR GENETICS

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

(2011) Johanna Palmio et al.   NEUROMUSCULAR DISORDERS

Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2

(2010) Olayinka Raheem et al.   AMERICAN JOURNAL OF PATHOLOGY

Impaired Autophagy in Sporadic Inclusion-Body Myositis and in Endoplasmic Reticulum Stress-Provoked Cultured Human Muscle Fibers

(2010) Anna Nogalska et al.   AMERICAN JOURNAL OF PATHOLOGY

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

(2010) Emilie Tresse et al.   Autophagy

Sporadic inclusion body myositis: possible pathogenesis inferred from biomarkers

(2010) Conrad C Weihl et al.   CURRENT OPINION IN NEUROLOGY

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies

(2010) Karine Charton et al.   HUMAN MOLECULAR GENETICS

Identification of Caspase-6-Mediated Processing of the Valosin Containing Protein (p97) in Alzheimer's Disease: A Novel Link to Dysfunction in Ubiquitin Proteasome System-Mediated Protein Degradation

(2010) D. Halawani et al.   JOURNAL OF NEUROSCIENCE

p62/SQSTM1 is overexpressed and prominently accumulated in inclusions of sporadic inclusion-body myositis muscle fibers, and can help differentiating it from polymyositis and dermatomyositis

(2009) Anna Nogalska et al.   ACTA NEUROPATHOLOGICA

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

(2009) Jeong-Sun Ju et al.   JOURNAL OF CELL BIOLOGY

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

(2009) Marzia Pollazzon et al.   JOURNAL OF NEUROLOGY

Inclusion-body myositis: muscle-fiber molecular pathology and possible pathogenic significance of its similarity to Alzheimer’s and Parkinson’s disease brains

(2008) Valerie Askanas et al.   ACTA NEUROPATHOLOGICA

Mitochondrial processes are impaired in hereditary inclusion body myopathy

(2008) Iris Eisenberg et al.   HUMAN MOLECULAR GENETICS

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band - implications for hereditary myopathies

(2008) A. Fukuzawa et al.   JOURNAL OF CELL SCIENCE

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

(2008) Peter Hackman et al.   NEUROMUSCULAR DISORDERS