Glycolytic-to-oxidative fiber-type switch and mTOR signaling activation are early-onset features of SBMA muscle modified by high-fat diet

Muscle as a “Mediator” of Systemic Metabolism

(2015) Kedryn K. Baskin et al.   Cell Metabolism

A metabolic switch toward lipid use in glycolytic muscle is an early pathologic event in a mouse model of amyotrophic lateral sclerosis

(2015) L. Palamiuc et al.   EMBO Molecular Medicine

In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy

(2015) Maria Pennuto et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients

(2015) Giorgia Querin et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Distinct Etiological Roles for Myocytes and Motor Neurons in a Mouse Model of Kennedy's Disease/Spinobulbar Muscular Atrophy

(2015) F. Ramzan et al.   JOURNAL OF NEUROSCIENCE

Protein Arginine Methyltransferase 6 Enhances Polyglutamine-Expanded Androgen Receptor Function and Toxicity in Spinal and Bulbar Muscular Atrophy

(2015) Chiara Scaramuzzino et al.   NEURON

Reinstating Aberrant mTORC1 Activity in Huntington’s Disease Mice Improves Disease Phenotypes

(2015) John H. Lee et al.   NEURON

Regulation of autophagy and the ubiquitin–proteasome system by the FoxO transcriptional network during muscle atrophy

(2015) Giulia Milan et al.   Nature Communications

Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy

(2015) Paola Rusmini et al.   Scientific Reports

Sample preparation and orthogonal chromatography for broad polarity range plasma metabolomics: Application to human subjects with neurodegenerative dementia

(2014) Andrea Armirotti et al.   ANALYTICAL BIOCHEMISTRY

Human androgen deficiency: insights gained from androgen receptor knockout mouse models

(2014) JeffreyD Zajac et al.   ASIAN JOURNAL OF ANDROLOGY

The Involvement of Lipids in Alzheimer's Disease

(2014) Wei Ling Florence Lim et al.   Journal of Genetics and Genomics

Understanding androgen action in adipose tissue

(2014) Michael W. O’Reilly et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Hypercaloric enteral nutrition in patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled phase 2 trial

(2014) Anne-Marie Wills et al.   LANCET

Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA

(2014) Constanza J Cortes et al.   NATURE NEUROSCIENCE

Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy

(2014) Constanza J. Cortes et al.   NEURON

Haptoglobin Is Required to Prevent Oxidative Stress and Muscle Atrophy

(2014) Enrico Bertaggia et al.   PLoS One

Peripheral Androgen Receptor Gene Suppression Rescues Disease in Mouse Models of Spinal and Bulbar Muscular Atrophy

(2014) Andrew P. Lieberman et al.   Cell Reports

Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy

(2013) Adriana Malena et al.   ACTA NEUROPATHOLOGICA

The influence of skeletal muscle on systemic aging and lifespan

(2013) Fabio Demontis et al.   AGING CELL

Sustained Activation of mTORC1 in Skeletal Muscle Inhibits Constitutive and Starvation-Induced Autophagy and Causes a Severe, Late-Onset Myopathy

(2013) Perrine Castets et al.   Cell Metabolism

Mechanisms regulating skeletal muscle growth and atrophy

(2013) Stefano Schiaffino et al.   FEBS Journal

Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease

(2013) Katrina J. Llewellyn et al.   HUMAN MOLECULAR GENETICS

Transcriptional activation of TFEB/ZKSCAN3 target genes underlies enhanced autophagy in spinobulbar muscular atrophy

(2013) J. P. Chua et al.   HUMAN MOLECULAR GENETICS

Hypolipidemia in Patients with Amyotrophic Lateral Sclerosis: A Possible Gender Difference?

(2013) Ji Won Yang et al.   Journal of Clinical Neurology

mTOR and regulation of energy homeostasis in humans

(2013) Marwan Mannaa et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

New Routes to Therapy for Spinal and Bulbar Muscular Atrophy

(2013) Anna Rocchi et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Testosterone Signals through mTOR and Androgen Receptor to Induce Muscle Hypertrophy

(2013) CARLA BASUALTO-ALARCÓN et al.   MEDICINE AND SCIENCE IN SPORTS AND EXERCISE

Signal integration by mTORC1 coordinates nutrient input with biosynthetic output

(2013) Christian C. Dibble et al.   NATURE CELL BIOLOGY

BMP signaling controls muscle mass

(2013) Roberta Sartori et al.   NATURE GENETICS

Prediagnostic body fat and risk of death from amyotrophic lateral sclerosis: The EPIC cohort

(2013) V. Gallo et al.   NEUROLOGY

Adipose Tissue Distribution Predicts Survival in Amyotrophic Lateral Sclerosis

(2013) Eva Lindauer et al.   PLoS One

High-caloric food supplements in the treatment of amyotrophic lateral sclerosis: A prospective interventional study

(2013) Johannes Dorst et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Elevated PGC-1α Activity Sustains Mitochondrial Biogenesis and Muscle Function without Extending Survival in a Mouse Model of Inherited ALS

(2012) Sandrine Da Cruz et al.   Cell Metabolism

Metabolic Dysfunction in Alzheimers Disease and Related Neurodegenerative Disorders

(2012) Huan Cai et al.   Current Alzheimer Research

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

(2012) Carmine Settembre et al.   EMBO JOURNAL

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

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

(2012) Marco Spinazzi et al.   Nature Protocols

Histone deacetylases 1 and 2 regulate autophagy flux and skeletal muscle homeostasis in mice

(2012) V. Moresi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43

(2012) I.-F. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular characterization of skeletal muscle atrophy in the R6/2 mouse model of Huntington's disease

(2011) Pengxiang She et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

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

(2011) Xiaojie Zhang et al.   Autophagy

Neurotoxic effects of androgens in spinal and bulbar muscular atrophy

(2011) Sara Parodi et al.   FRONTIERS IN NEUROENDOCRINOLOGY

Impaired motoneuronal retrograde transport in two models of SBMA implicates two sites of androgen action

(2011) Michael Q. Kemp et al.   HUMAN MOLECULAR GENETICS

Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial

(2011) Lindsay E Fernández-Rhodes et al.   LANCET NEUROLOGY

Linking lipids to Alzheimer's disease: cholesterol and beyond

(2011) Gilbert Di Paolo et al.   NATURE REVIEWS NEUROSCIENCE

Concerted regulation of myofiber-specific gene expression and muscle performance by the transcriptional repressor Sox6

(2011) D. Quiat et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cell-autonomous and non-cell-autonomous toxicity in polyglutamine diseases

(2011) Fabio Sambataro et al.   PROGRESS IN NEUROBIOLOGY

Macroautophagy Is Regulated by the UPR–Mediator CHOP and Accentuates the Phenotype of SBMA Mice

(2011) Zhigang Yu et al.   PLoS Genetics

Androgen stimulates glycolysis forde novolipid synthesis by increasing the activities of hexokinase 2 and 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 in prostate cancer cells

(2010) Jong-Seok Moon et al.   BIOCHEMICAL JOURNAL

FOXO/4E-BP Signaling in Drosophila Muscles Regulates Organism-wide Proteostasis during Aging

(2010) Fabio Demontis et al.   CELL

Mitochondrial fission and remodelling contributes to muscle atrophy

(2010) Vanina Romanello et al.   EMBO JOURNAL

Molecular Interplay between Mammalian Target of Rapamycin (mTOR), Amyloid-β, and Tau

(2010) Antonella Caccamo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Mouse Model of Metabolic Syndrome: Insulin Resistance, Fatty Liver and Non-Alcoholic Fatty Pancreas Disease (NAFPD) in C57BL/6 Mice Fed a High Fat Diet

(2010) Julio C. Fraulob et al.   JOURNAL OF CLINICAL BIOCHEMISTRY AND NUTRITION

Patients with elevated triglyceride and cholesterol serum levels have a prolonged survival in amyotrophic lateral sclerosis

(2010) J. Dorst et al.   JOURNAL OF NEUROLOGY

Rapamycin Protects against Neuron Death in In Vitro andIn Vivo Models of Parkinson's Disease

(2010) C. Malagelada et al.   JOURNAL OF NEUROSCIENCE

Pathogenic Lysosomal Depletion in Parkinson's Disease

(2010) B. Dehay et al.   JOURNAL OF NEUROSCIENCE

Native Functions of the Androgen Receptor Are Essential to Pathogenesis in a Drosophila Model of Spinobulbar Muscular Atrophy

(2010) Natalia B. Nedelsky et al.   NEURON

Selective Molecular Alterations in the Autophagy Pathway in Patients with Lewy Body Disease and in Models of α-Synucleinopathy

(2010) Leslie Crews et al.   PLoS One

Inhibition of mTOR by Rapamycin Abolishes Cognitive Deficits and Reduces Amyloid-β Levels in a Mouse Model of Alzheimer's Disease

(2010) Patricia Spilman et al.   PLoS One

Microarray Analysis of Gene Expression by Skeletal Muscle of Three Mouse Models of Kennedy Disease/Spinal Bulbar Muscular Atrophy

(2010) Kaiguo Mo et al.   PLoS One

A muscle-specific knockout implicates nuclear receptor coactivator MED1 in the regulation of glucose and energy metabolism

(2010) W. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3

(2009) Fiona M. Menzies et al.   BRAIN

Inducible activation of Akt increases skeletal muscle mass and force without satellite cell activation

(2009) Bert Blaauw et al.   FASEB JOURNAL

Altered cholesterol and fatty acid metabolism in Huntington disease

(2009) Robert C. Block et al.   Journal of Clinical Lipidology

SUnSET, a nonradioactive method to monitor protein synthesis

(2009) Enrico K Schmidt et al.   NATURE METHODS

Lower serum lipid levels are related to respiratory impairment in patients with ALS

(2009) A. Chio et al.   NEUROLOGY

Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy

(2009) Isabella Palazzolo et al.   NEURON

Mechanisms of Cancer Cachexia

(2009) Michael J. Tisdale   PHYSIOLOGICAL REVIEWS

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

Impaired skeletal muscle development and function in male, but not female, genomic androgen receptor knockout mice

(2008) Helen E. MacLean et al.   FASEB JOURNAL

Mitochondrial abnormalities in spinal and bulbar muscular atrophy

(2008) Srikanth Ranganathan et al.   HUMAN MOLECULAR GENETICS

Spinal and bulbar muscular atrophy: Skeletal muscle pathology in male patients and heterozygous females

(2007) Gianni Sorarù et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES