Dysfunction of autophagy as the pathological mechanism of motor neuron disease based on a patient-specific disease model

Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

(2015) Zhouteng Tao et al.   HUMAN MOLECULAR GENETICS

Autophagy receptor defects and ALS-FTLD

(2015) Veronika Majcher et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Autophagy in Neurodegenerative Diseases: From Mechanism to Therapeutic Approach

(2015) Jihoon Nah et al.   MOLECULES AND CELLS

Autophagy in spinal motor neurons of conditional ADAR2-knockout mice: An implication for a role of calcium in increased autophagy flux in ALS

(2015) Soichi Sasaki et al.   NEUROSCIENCE LETTERS

TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

(2015) Emma L. Scotter et al.   Neurotherapeutics

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Autophagy in neurodegenerative diseases: From pathogenic dysfunction to therapeutic modulation

(2015) Marta Martinez-Vicente   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Pathogenic role of BECN1/Beclin 1 in the development of amyotrophic lateral sclerosis

(2014) Melissa Nassif et al.   Autophagy

Human-induced pluripotent stem cells pave the road for a better understanding of motor neuron disease

(2014) B. Winner et al.   HUMAN MOLECULAR GENETICS

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

(2014) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

(2014) Sami J Barmada et al.   Nature Chemical Biology

Absence of lipofuscin in motor neurons of SOD1-linked ALS mice

(2014) U. Bandyopadhyay et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation

(2014) Yvette C. Wong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PTEN regulates AMPA receptor-mediated cell viability in iPS-derived motor neurons

(2014) D-J Yang et al.   Cell Death & Disease

PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage

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Tyrosine kinase inhibition increases functional parkin-Beclin-1 interaction and enhances amyloid clearance and cognitive performance

(2013) Irina Lonskaya et al.   EMBO Molecular Medicine

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

(2013) D. Sareen et al.   Science Translational Medicine

Survival motor neuron protein reduction deregulates autophagy in spinal cord motoneurons in vitro

(2013) A Garcera et al.   Cell Death & Disease

Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease

(2012) Adriana Sánchez-Danés et al.   EMBO Molecular Medicine

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

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Phosphatase and Tensin Homolog (PTEN)-induced Putative Kinase 1 (PINK1)-dependent Ubiquitination of Endogenous Parkin Attenuates Mitophagy

(2012) Aleksandar Rakovic et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Drug Screening for ALS Using Patient-Specific Induced Pluripotent Stem Cells

(2012) N. Egawa et al.   Science Translational Medicine

Spinal Muscular Atrophy

(2011) Stephen J. Kolb   ARCHIVES OF NEUROLOGY

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

(2011) Xiaojie Zhang et al.   Autophagy

Autophagy Dysregulation in Amyotrophic Lateral Sclerosis

(2011) Sheng Chen et al.   BRAIN PATHOLOGY

Autophagy and Aging

(2011) David C. Rubinsztein et al.   CELL

LRRK2 Mutant iPSC-Derived DA Neurons Demonstrate Increased Susceptibility to Oxidative Stress

(2011) Ha Nam Nguyen et al.   Cell Stem Cell

Modeling familial Alzheimer's disease with induced pluripotent stem cells

(2011) Takuya Yagi et al.   HUMAN MOLECULAR GENETICS

Autophagy deregulation in neurodegenerative diseases - recent advances and future perspectives

(2011) Zelda H. Cheung et al.   JOURNAL OF NEUROCHEMISTRY

SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy

(2011) John T. Kissel et al.   PLoS One

SNCA Triplication Parkinson's Patient's iPSC-derived DA Neurons Accumulate α-Synuclein and Are Susceptible to Oxidative Stress

(2011) Blake Byers et al.   PLoS One

Brief Report: Phenotypic Rescue of Induced Pluripotent Stem Cell-Derived Motoneurons of a Spinal Muscular Atrophy Patient

(2011) Tammy Chang et al.   STEM CELLS

The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy

(2010) S Michiorri et al.   CELL DEATH AND DIFFERENTIATION

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

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

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

Regulation of Amyloid Precursor Protein Processing by the Beclin 1 Complex

(2010) Philipp A. Jaeger et al.   PLoS One

Genome-wide analysis reveals mechanisms modulating autophagy in normal brain aging and in Alzheimer's disease

(2010) M. M. Lipinski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

(2009) Arthur H. M. Burghes et al.   NATURE REVIEWS NEUROSCIENCE

Review: Autophagy in neurodegeneration: firefighter and/or incendiarist?

(2009) A. Rami   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease

(2008) T. Pan et al.   BRAIN

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons

(2008) J. T. Dimos et al.   SCIENCE