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

Rheb is a Critical Regulator of Autophagy During Myocardial Ischemia

(2012) Sebastiano Sciarretta et al.   CIRCULATION

Exercise-induced BCL2-regulated autophagy is required for muscle glucose homeostasis

(2012) Congcong He et al.   NATURE

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

(2012) Hemmo Meyer et al.   NATURE CELL BIOLOGY

Temsirolimus Activates Autophagy and Ameliorates Cardiomyopathy Caused by Lamin A/C Gene Mutation

(2012) J. C. Choi et al.   Science Translational Medicine

Rapamycin Reverses Elevated mTORC1 Signaling in Lamin A/C-Deficient Mice, Rescues Cardiac and Skeletal Muscle Function, and Extends Survival

(2012) F. J. Ramos et al.   Science Translational Medicine

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Rapamycin treatment augments motor neuron degeneration in SOD1G93Amouse model of amyotrophic lateral sclerosis

(2011) Xiaojie Zhang et al.   Autophagy

Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A

(2011) Virginie Carmignac et al.   HUMAN MOLECULAR GENETICS

DEPTOR, an mTOR Inhibitor, Is a Physiological Substrate of SCFβTrCP E3 Ubiquitin Ligase and Regulates Survival and Autophagy

(2011) Yongchao Zhao et al.   MOLECULAR CELL

mTOR Drives Its Own Activation via SCFβTrCP-Dependent Degradation of the mTOR Inhibitor DEPTOR

(2011) Daming Gao et al.   MOLECULAR CELL

p62 Is a Key Regulator of Nutrient Sensing in the mTORC1 Pathway

(2011) Angeles Duran et al.   MOLECULAR CELL

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

(2011) Danilo Ritz et al.   NATURE CELL BIOLOGY

Reversible inhibitor of p97, DBeQ, impairs both ubiquitin-dependent and autophagic protein clearance pathways

(2011) T.-F. Chou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mannose receptor polyubiquitination regulates endosomal recruitment of p97 and cytosolic antigen translocation for cross-presentation

(2011) M. Zehner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Artophagy

(2010) Daniel J. Klionsky   Autophagy

Quantitation of "autophagic flux" in mature skeletal muscle

(2010) Jeong-Sun Ju et al.   Autophagy

mTORC1 signaling requires proteasomal function and the involvement of CUL4-DDB1 ubiquitin E3 ligase

(2010) Papia Ghosh et al.   CELL CYCLE

Novel insights into the regulation of skeletal muscle protein synthesis as revealed by a new nonradioactive in vivo technique

(2010) Craig A. Goodman et al.   FASEB JOURNAL

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone

(2010) Sara K. Custer et al.   HUMAN MOLECULAR GENETICS

The Late Endosome is Essential for mTORC1 Signaling

(2010) Rory J. Flinn et al.   MOLECULAR BIOLOGY OF THE CELL

A Phosphatidylinositol 3-Kinase/Protein Kinase B-independent Activation of Mammalian Target of Rapamycin Signaling Is Sufficient to Induce Skeletal Muscle Hypertrophy

(2010) Craig A. Goodman et al.   MOLECULAR BIOLOGY OF THE CELL

Regulation of the mTOR Complex 1 Pathway by Nutrients, Growth Factors, and Stress

(2010) Shomit Sengupta et al.   MOLECULAR CELL

Autophagy is defective in collagen VI muscular dystrophies and its reactivation rescues myofiber degeneration

(2010) Paolo Grumati et al.   NATURE MEDICINE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease

(2010) Mallikarjun Badadani et al.   PLoS One

RETRACTED: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification

(2009) Nivetha Ramachandran et al.   CELL

Autophagy Is Required to Maintain Muscle Mass

(2009) Eva Masiero et al.   Cell Metabolism

Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy

(2009) Valérie Risson et al.   JOURNAL OF CELL BIOLOGY

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

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

ULK-Atg13-FIP200 Complexes Mediate mTOR Signaling to the Autophagy Machinery

(2009) Chang Hwa Jung et al.   MOLECULAR BIOLOGY OF THE CELL

SUnSET, a nonradioactive method to monitor protein synthesis

(2009) Enrico K Schmidt et al.   NATURE METHODS

Valosin-containing protein disease: Inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia

(2009) Conrad C. Weihl et al.   NEUROMUSCULAR DISORDERS

UBXD7 Binds Multiple Ubiquitin Ligases and Implicates p97 in HIF1α Turnover

(2008) Gabriela Alexandru et al.   CELL

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

(2008) C C Weihl et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Lysosomal myopathies: An excessive build-up in autophagosomes is too much to handle

(2008) May Christine Malicdan et al.   NEUROMUSCULAR DISORDERS

The Rag GTPases Bind Raptor and Mediate Amino Acid Signaling to mTORC1

(2008) Y. Sancak et al.   SCIENCE