Is amyotrophic lateral sclerosis/frontotemporal dementia an autophagy disease?

Oxidative stress and mitochondrial damage in the pathogenesis of ALS: New perspectives

(2017) F. Bozzo et al.   NEUROSCIENCE LETTERS

The Src/c-Abl pathway is a potential therapeutic target in amyotrophic lateral sclerosis

(2017) Keiko Imamura et al.   Science Translational Medicine

Autophagy Receptors and Neurodegenerative Diseases

(2017) Zhiqiang Deng et al.   TRENDS IN CELL BIOLOGY

Keap1/Cullin3 Modulates p62/SQSTM1 Activity via UBA Domain Ubiquitination

(2017) YouJin Lee et al.   Cell Reports

Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways

(2016) Anna M. Blokhuis et al.   ACTA NEUROPATHOLOGICA

Impaired protein degradation in FTLD and related disorders

(2016) Julia K. Götzl et al.   AGEING RESEARCH REVIEWS

HSF1 stress response pathway regulates autophagy receptor SQSTM1/p62-associated proteostasis

(2016) Yoshihisa Watanabe et al.   Autophagy

Defective recognition of LC3B by mutant SQSTM1/p62 implicates impairment of autophagy as a pathogenic mechanism in ALS-FTLD

(2016) Alice Goode et al.   Autophagy

Disturbance of proteasomal and autophagic protein degradation pathways by amyotrophic lateral sclerosis-linked mutations in ubiquilin 2

(2016) Mayuko Osaka et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Stress granules at the intersection of autophagy and ALS

(2016) Zachary Monahan et al.   BRAIN RESEARCH

UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome

(2016) Roland Hjerpe et al.   CELL

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

(2016) Chantal Sellier et al.   EMBO JOURNAL

VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy

(2016) Chrisovalantis Papadopoulos et al.   EMBO JOURNAL

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

(2016) Christopher P Webster et al.   EMBO JOURNAL

Functional links between SQSTM1 and ALS2 in the pathogenesis of ALS: cumulative impact on the protection against mutant SOD1-mediated motor dysfunction in mice

(2016) Shinji Hadano et al.   HUMAN MOLECULAR GENETICS

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

(2016) Joseph Amick et al.   MOLECULAR BIOLOGY OF THE CELL

TRIM21 Ubiquitylates SQSTM1/p62 and Suppresses Protein Sequestration to Regulate Redox Homeostasis

(2016) Ji-An Pan et al.   MOLECULAR CELL

ULK1-mediated phosphorylation of ATG14 promotes autophagy and is impaired in Huntington’s disease models

(2016) Mitchell S. Wold et al.   Molecular Neurodegeneration

Phosphorylation of OPTN by TBK1 enhances its binding to Ub chains and promotes selective autophagy of damaged mitochondria

(2016) Benjamin Richter et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy

(2016) Andrew S. Moore et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RIPK1 mediates axonal degeneration by promoting inflammation and necroptosis in ALS

(2016) Yasushi Ito et al.   SCIENCE

Ubiquitin-Dependent And Independent Signals In Selective Autophagy

(2016) Aliaksandr Khaminets et al.   TRENDS IN CELL BIOLOGY

Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteins

(2016) Faxiang Li et al.   Nature Communications

Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling

(2016) Janet Ugolino et al.   PLoS Genetics

A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy

(2016) M. Yang et al.   Science Advances

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

(2016) Peter M. Sullivan et al.   Acta Neuropathologica Communications

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

Mutations in the ubiquitin-binding domain of OPTN/optineurin interfere with autophagy-mediated degradation of misfolded proteins by a dominant-negative mechanism

(2015) Wen-Chuan Shen et al.   Autophagy

Role of autophagy in the pathogenesis of amyotrophic lateral sclerosis

(2015) Jae Keun Lee et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

TDP-43 loss of function increases TFEB activity and blocks autophagosome-lysosome fusion

(2015) Q. Xia et al.   EMBO JOURNAL

TBK1 controls autophagosomal engulfment of polyubiquitinated mitochondria through p62/SQSTM1 phosphorylation

(2015) Gen Matsumoto et al.   HUMAN MOLECULAR GENETICS

Vapb/Amyotrophic lateral sclerosis 8 knock-in mice display slowly progressive motor behavior defects accompanying ER stress and autophagic response

(2015) Frédérique Larroquette et al.   HUMAN MOLECULAR GENETICS

Reduced protein turnover mediates functional deficits in transgenic mice expressing the 25 kDa C-terminal fragment of TDP-43

(2015) Antonella Caccamo et al.   HUMAN MOLECULAR GENETICS

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis

(2015) Vinod Sundaramoorthy et al.   HUMAN MOLECULAR GENETICS

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Endolysosomal Deficits Augment Mitochondria Pathology in Spinal Motor Neurons of Asymptomatic fALS Mice

(2015) Yuxiang Xie et al.   NEURON

The DNA damage response induces inflammation and senescence by inhibiting autophagy of GATA4

(2015) C. Kang et al.   SCIENCE

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Amino Acid Activation of mTORC1 by a PB1-Domain-Driven Kinase Complex Cascade

(2015) Juan F. Linares et al.   Cell Reports

Proteotoxic Stress Induces Phosphorylation of p62/SQSTM1 by ULK1 to Regulate Selective Autophagic Clearance of Protein Aggregates

(2015) Junghyun Lim et al.   PLoS Genetics

Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China

(2015) Chengyu Li et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

(2014) Yong-Jie Zhang et al.   ACTA NEUROPATHOLOGICA

Pathogenic Ubqln2 gains toxic properties to induce neuron death

(2014) Qinxue Wu et al.   ACTA NEUROPATHOLOGICA

Mechanisms of toxicity in C9FTLD/ALS

(2014) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

(2014) Julie van der Zee et al.   ACTA NEUROPATHOLOGICA

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

(2014) Melissa Nassif et al.   Autophagy

First evidence of pathogenicity of V234I mutation of hVAPB found in Amyotrophic Lateral Sclerosis

(2014) Dhrubajyoti Chattopadhyay et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Ubiquitylation of Autophagy Receptor Optineurin by HACE1 Activates Selective Autophagy for Tumor Suppression

(2014) Zhengzhao Liu et al.   CANCER CELL

A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis

(2014) Hatice Koçak Eker et al.   European Journal of Medical Genetics

SQSTM1 mutations – Bridging Paget disease of bone and ALS/FTLD

(2014) Sarah L. Rea et al.   EXPERIMENTAL CELL RESEARCH

Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD

(2014) Serena Lattante et al.   HUMAN MOLECULAR GENETICS

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

(2014) E. L. Scotter et al.   JOURNAL OF CELL SCIENCE

Interactions between Autophagy Receptors and Ubiquitin-like Proteins Form the Molecular Basis for Selective Autophagy

(2014) Vladimir Rogov et al.   MOLECULAR CELL

Autophagy regulates amyotrophic lateral sclerosis-linked fused in sarcoma-positive stress granules in neurons

(2014) Hyun-Hee Ryu et al.   NEUROBIOLOGY OF AGING

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

(2014) Zhaoming Su et al.   NEURON

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

Loss of function of the ALS protein SigR1 leads to ER pathology associated with defective autophagy and lipid raft disturbances

(2014) J T Vollrath et al.   Cell Death & Disease

The neuropathology associated with repeat expansions in the C9ORF72 gene

(2013) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Protein aggregation in amyotrophic lateral sclerosis

(2013) Anna M. Blokhuis et al.   ACTA NEUROPATHOLOGICA

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

(2013) Veronique V. Belzil et al.   ACTA NEUROPATHOLOGICA

Eukaryotic Stress Granules Are Cleared by Autophagy and Cdc48/VCP Function

(2013) J. Ross Buchan et al.   CELL

The ALS8 protein VAPB interacts with the ER–Golgi recycling protein YIF1A and regulates membrane delivery into dendrites

(2013) Marijn Kuijpers et al.   EMBO JOURNAL

New Insights Into the Role of Sequestosome 1/p62 Mutant Proteins in the Pathogenesis of Paget's Disease of Bone

(2013) Sarah L. Rea et al.   ENDOCRINE REVIEWS

SQSTM1/p62/A170 regulates the severity ofLegionella pneumophilapneumonia by modulating inflammasome activity

(2013) Shigeo Ohtsuka et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T

(2013) Salma M. Wakil et al.   GENE

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis

(2013) Edor Kabashi et al.   HUMAN MOLECULAR GENETICS

Stress granules as crucibles of ALS pathogenesis

(2013) Yun R. Li et al.   JOURNAL OF CELL BIOLOGY

Amyotrophic lateral sclerosis-linked FUS/TLS alters stress granule assembly and dynamics

(2013) Desiree M Baron et al.   Molecular Neurodegeneration

ULK1 induces autophagy by phosphorylating Beclin-1 and activating VPS34 lipid kinase

(2013) Ryan C. Russell et al.   NATURE CELL BIOLOGY

Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models

(2013) Hyung-Jun Kim et al.   NATURE GENETICS

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

The autophagosome: origins unknown, biogenesis complex

(2013) Christopher A. Lamb et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

(2013) Carmine Settembre et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The epidemiology of ALS: a conspiracy of genes, environment and time

(2013) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation

(2013) Masaki Kamada et al.   NEUROPATHOLOGY

The molecular basis of the frontotemporal lobar degeneration–amyotrophic lateral sclerosis spectrum

(2012) Tim van Langenhove et al.   ANNALS OF MEDICINE

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

(2012) Johnathan Cooper-Knock et al.   BRAIN

The Hairpin-type Tail-Anchored SNARE Syntaxin 17 Targets to Autophagosomes for Fusion with Endosomes/Lysosomes

(2012) Eisuke Itakura et al.   CELL

Toward an integrative view of Optineurin functions

(2012) David Kachaner et al.   CELL CYCLE

Optineurin and amyotrophic lateral sclerosis

(2012) Hirofumi Maruyama et al.   Geriatrics & Gerontology International

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

TBK-1 Promotes Autophagy-Mediated Antimicrobial Defense by Controlling Autophagosome Maturation

(2012) Manohar Pilli et al.   IMMUNITY

Ubiquitin-independent function of optineurin in autophagic clearance of protein aggregates

(2012) J. Korac et al.   JOURNAL OF CELL SCIENCE

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

(2012) Hemmo Meyer et al.   NATURE CELL BIOLOGY

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

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

(2011) Amr Al-Saif et al.   ANNALS OF NEUROLOGY

The Role of Atg Proteins in Autophagosome Formation

(2011) Noboru Mizushima et al.   Annual Review of Cell and Developmental Biology

Cdc48/p97, a key actor in the interplay between autophagy and ubiquitin/proteasome catabolic pathways

(2011) Catherine Dargemont et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Defective relocalization of ALS2/alsin missense mutants to Rac1-induced macropinosomes accounts for loss of their cellular function and leads to disturbed amphisome formation

(2011) Asako Otomo et al.   FEBS LETTERS

VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis

(2011) Kurt J. De Vos et al.   HUMAN MOLECULAR GENETICS

Immune Signaling by RIG-I-like Receptors

(2011) Yueh-Ming Loo et al.   IMMUNITY

Regulation of Autophagy by Neuropathological Protein TDP-43

(2011) Jayarama Krishnan Bose et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Serine 403 Phosphorylation of p62/SQSTM1 Regulates Selective Autophagic Clearance of Ubiquitinated Proteins

(2011) Gen Matsumoto et al.   MOLECULAR CELL

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1

(2011) Joungmok Kim et al.   NATURE CELL BIOLOGY

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

(2011) P. Wild et al.   SCIENCE

Cdc48: a power machine in protein degradation

(2011) Alexandra Stolz et al.   TRENDS IN BIOCHEMICAL SCIENCES

RNA granules: The good, the bad and the ugly

(2010) María Gabriela Thomas et al.   CELLULAR SIGNALLING

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

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

(2010) Daryl A. Bosco et al.   HUMAN MOLECULAR GENETICS

Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy

(2010) C. Rothenberg et al.   HUMAN MOLECULAR GENETICS

Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin

(2010) Atsushi Tanaka et al.   JOURNAL OF CELL BIOLOGY

Cdc48/p97 and Shp1/p47 regulate autophagosome biogenesis in concert with ubiquitin-like Atg8

(2010) Roswitha Krick et al.   JOURNAL OF CELL BIOLOGY

Regulation of TDP-43 aggregation by phosphorylation andp62/SQSTM1

(2010) Owen A. Brady et al.   JOURNAL OF NEUROCHEMISTRY

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Mutant superoxide dismutase 1-induced IL-1  accelerates ALS pathogenesis

(2010) F. Meissner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A

(2009) Ahmad Galaleldeen et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Selective types of autophagy in yeast

(2009) Claudine Kraft et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Structural Changes to Monomeric CuZn Superoxide Dismutase Caused by the Familial Amyotrophic Lateral Sclerosis-Associated Mutation A4V

(2009) Tom Schmidlin et al.   BIOPHYSICAL JOURNAL

Rethinking ALS: The FUS about TDP-43

(2009) Clotilde Lagier-Tourenne et al.   CELL

PLIC proteins or ubiquilins regulate autophagy-dependent cell survival during nutrient starvation

(2009) Elsa-Noah N'Diaye et al.   EMBO REPORTS

Autophagy for the avoidance of neurodegeneration

(2009) F. Madeo et al.   GENES & DEVELOPMENT

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2

(2009) Cole J. Ferguson et al.   HUMAN MOLECULAR GENETICS

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

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

TDP-43 is recruited to stress granules in conditions of oxidative insult

(2009) Claudia Colombrita et al.   JOURNAL OF NEUROCHEMISTRY

Nutrient-dependent mTORC1 Association with the ULK1–Atg13–FIP200 Complex Required for Autophagy

(2009) Nao Hosokawa et al.   MOLECULAR BIOLOGY OF THE CELL

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

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

Degradation of TDP-43 and its pathogenic form by autophagy and the ubiquitin-proteasome system

(2009) Xiaoju Wang et al.   NEUROSCIENCE LETTERS

Does autophagy worsen or improve the survival of dopaminergic neurons?

(2009) Livia Pasquali et al.   PARKINSONISM & RELATED DISORDERS

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

White matter lesions in the brain with frontotemporal lobar degeneration with motor neuron disease: TDP-43-immunopositive inclusions co-localize with p62, but not ubiquitin

(2008) Masanori Hiji et al.   ACTA NEUROPATHOLOGICA

Structural determinants of the cellular localization and shuttling of TDP-43

(2008) Y. M. Ayala et al.   JOURNAL OF CELL SCIENCE

Diversity of degradation signals in the ubiquitin–proteasome system

(2008) Tommer Ravid et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The VAP protein family: from cellular functions to motor neuron disease

(2008) Sima Lev et al.   TRENDS IN CELL BIOLOGY