Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration

FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study

(2017) Alma Osmanovic et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A critical role of Hrd1 in the regulation of optineurin degradation and aggresome formation

(2017) Jiahui Mao et al.   HUMAN MOLECULAR GENETICS

Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons

(2017) Marthe H. R. Ludtmann et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regulation of various DNA repair pathways by E3 ubiquitin ligases

(2017) Chandramouli Natarajan et al.   Journal of Cancer Research and Therapeutics

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

(2017) Elisa Teyssou et al.   NEUROBIOLOGY OF AGING

The ER proteostasis network in ALS: Determining the differential motoneuron vulnerability

(2017) Pablo Rozas et al.   NEUROSCIENCE LETTERS

Amyotrophic Lateral Sclerosis

(2017) Robert H. Brown et al.   NEW ENGLAND JOURNAL OF MEDICINE

Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms

(2017) Andrea Markovinovic et al.   PROGRESS IN NEUROBIOLOGY

C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease

(2017) Joseph Amick et al.   TRAFFIC

Functional and dynamic polymerization of the ALS-linked protein TDP-43 antagonizes its pathologic aggregation

(2017) Tariq Afroz et al.   Nature Communications

TBK1: a new player in ALS linking autophagy and neuroinflammation

(2017) James A. Oakes et al.   Molecular Brain

The Role of the Multifunctional BAG3 Protein in Cellular Protein Quality Control and in Disease

(2017) Elisabeth Stürner et al.   Frontiers in Molecular Neuroscience

Ubiquitin-dependent and independent roles of SUMO in proteostasis

(2016) Frauke Liebelt et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

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

Mislocated FUS is sufficient for gain-of-toxic-function amyotrophic lateral sclerosis phenotypes in mice

(2016) Gen Shiihashi et al.   BRAIN

Stress granules at the intersection of autophagy and ALS

(2016) Zachary Monahan et al.   BRAIN RESEARCH

Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis

(2016) Yulei Shang et al.   BRAIN RESEARCH

UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome

(2016) Roland Hjerpe et al.   CELL

An amyloid-like cascade hypothesis for C9orf72 ALS/FTD

(2016) Dieter Edbauer et al.   CURRENT OPINION IN NEUROBIOLOGY

ALS‐linked protein disulfide isomerase variants cause motor dysfunction

(2016) Ute Woehlbier 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

Optineurin: The autophagy connection

(2016) Hongyu Ying et al.   EXPERIMENTAL EYE RESEARCH

Structure and function of the AAA+ ATPase p97/Cdc48p

(2016) Di Xia et al.   GENE

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

Variation in worldwide incidence of amyotrophic lateral sclerosis: a meta-analysis

(2016) Benoît Marin et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response

(2016) Tao Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Increased Ubqln2 expression causes neuron death in transgenic rats

(2016) Bo Huang et al.   JOURNAL OF NEUROCHEMISTRY

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

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

(2016) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Mahogunin ring finger 1 confers cytoprotection against mutant SOD1 aggresomes and is defective in an ALS mouse model

(2016) Deepak Chhangani et al.   NEUROBIOLOGY OF DISEASE

C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD

(2016) Yuanjing Liu et al.   NEURON

Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review

(2016) L. J. Schipper et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

Motor neuron disease, TDP-43 pathology, and memory deficits in mice expressing ALS–FTD-linkedUBQLN2mutations

(2016) Nhat T. T. Le 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

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

Human TBK1: A Gatekeeper of Neuroinflammation

(2016) Liyana Ahmad et al.   TRENDS IN MOLECULAR MEDICINE

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

(2016) Faxiang Li et al.   Nature Communications

Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis

(2016) Seshiru Nakazawa et al.   Nature Communications

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

(2016) Kelly L. Williams et al.   Nature Communications

Susceptibility of Mutant SOD1 to Form a Destabilized Monomer Predicts Cellular Aggregation and Toxicity but Not In vitro Aggregation Propensity

(2016) Luke McAlary et al.   Frontiers in Neuroscience

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

Rab1-dependent ER–Golgi transport dysfunction is a common pathogenic mechanism in SOD1, TDP-43 and FUS-associated ALS

(2015) Kai Y. Soo et al.   ACTA NEUROPATHOLOGICA

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

(2015) Max Koppers et al.   ANNALS OF NEUROLOGY

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

Molecular mechanisms of Nrf2 regulation and how these influence chemical modulation for disease intervention

(2015) Bryan Harder et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

p62/SQSTM1 functions as a signaling hub and an autophagy adaptor

(2015) Yoshinori Katsuragi et al.   FEBS Journal

Control of p97 function by cofactor binding

(2015) Alexander Buchberger et al.   FEBS LETTERS

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

(2015) Paloma Gonzalez-Perez et al.   GENE

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

(2015) Gen Matsumoto 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

Valproate Attenuates 25-kDa C-Terminal Fragment of TDP-43-Induced Neuronal Toxicity via Suppressing Endoplasmic Reticulum Stress and Activating Autophagy

(2015) Xuejing Wang et al.   International Journal of Biological Sciences

Profiling of Ubiquitination Pathway Genes in Peripheral Cells from Patients with Frontotemporal Dementia due to C9ORF72 and GRN Mutations

(2015) Maria Serpente et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Parkin Protects Against Misfolded SOD1 Toxicity by Promoting Its Aggresome Formation and Autophagic Clearance

(2015) Cheryl Yung et al.   MOLECULAR NEUROBIOLOGY

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts

(2015) Isabelle Le Ber et al.   NEUROBIOLOGY OF AGING

Inhibition of Pathogenic Mutant SOD1 Aggregation in Cultured Motor Neuronal Cells by Prevention of Its SUMOylation on Lysine 75

(2015) Audrey Dangoumau et al.   Neurodegenerative Diseases

Loss ofTBK1is a frequent cause of frontotemporal dementia in a Belgian cohort

(2015) Ilse Gijselinck et al.   NEUROLOGY

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

(2015) Emma L. Scotter et al.   Neurotherapeutics

Defective Proteasome Delivery of Polyubiquitinated Proteins by Ubiquilin-2 Proteins Containing ALS Mutations

(2015) Lydia Chang et al.   PLoS One

Mutation TBK1 : un argument majeur pour le rôle de l’autophagie dans la SLA

(2015) P. Corcia et al.   REVUE NEUROLOGIQUE

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions

(2015) Natalie E. Farrawell et al.   Scientific Reports

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration

(2015) Jorge Gomez-Deza et al.   Acta Neuropathologica Communications

FUS/TLS deficiency causes behavioral and pathological abnormalities distinct from amyotrophic lateral sclerosis

(2015) Yoshihiro Kino et al.   Acta Neuropathologica Communications

Autophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALS

(2015) Francesca Navone et al.   Cells

K63 linked ubiquitin chain formation is a signal for HIF1A degradation by Chaperone-Mediated Autophagy

(2015) Joao Vasco Ferreira et al.   Scientific Reports

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

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

Defining the limits: Protein aggregation and toxicityin vivo

(2014) William M. Holmes et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

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

UBE2E Ubiquitin-conjugating Enzymes and Ubiquitin Isopeptidase Y Regulate TDP-43 Protein Ubiquitination

(2014) Friederike Hans et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular and Cellular Roles of PI31 (PSMF1) Protein in Regulation of Proteasome Function

(2014) Xiaohua Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The requirement for Cdc48/p97 in nuclear protein quality control degradation depends on the substrate and correlates with substrate insolubility

(2014) P. S. Gallagher et al.   JOURNAL OF CELL SCIENCE

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

Disease-Associated Mutations of TDP-43 Promote Turnover of the Protein Through the Proteasomal Pathway

(2014) Wataru Araki et al.   MOLECULAR NEUROBIOLOGY

C9ORF72-ALS: P62- and ubiquitin-aggregation pathology in skeletal muscle

(2014) Matthias Türk et al.   MUSCLE & NERVE

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

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

The role of FUS gene variants in neurodegenerative diseases

(2014) Hao Deng et al.   Nature Reviews Neurology

Disturbance of endoplasmic reticulum proteostasis in neurodegenerative diseases

(2014) Claudio Hetz et al.   NATURE REVIEWS NEUROSCIENCE

Cleaning up in the endoplasmic reticulum: ubiquitin in charge

(2014) John C Christianson et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

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

SUMO3 Modification Accelerates the Aggregation of ALS-Linked SOD1 Mutants

(2014) Takako Niikura et al.   PLoS One

Amyotrophic Lateral Sclerosis-Linked Mutant VAPB Inclusions Do Not Interfere with Protein Degradation Pathways or Intracellular Transport in a Cultured Cell Model

(2014) Paola Genevini et al.   PLoS One

Protein aggregation in amyotrophic lateral sclerosis

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

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

(2013) Elisa Teyssou et al.   ACTA NEUROPATHOLOGICA

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

(2013) J. Ross Buchan et al.   CELL

Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons

(2013) Leonardo Aliaga et al.   HUMAN MOLECULAR GENETICS

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

(2013) Caroline Vance et al.   HUMAN MOLECULAR GENETICS

Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis

(2013) J. Prause et al.   HUMAN MOLECULAR GENETICS

Protein SUMOylation, an emerging pathway in amyotrophic lateral sclerosis

(2013) Audrey Dangoumau et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Pathogenic mutation of UBQLN2 impairs its interaction with UBXD8 and disrupts endoplasmic reticulum-associated protein degradation

(2013) Yuxing Xia et al.   JOURNAL OF NEUROCHEMISTRY

Advances in Cellular Models to Explore the Pathophysiology of Amyotrophic Lateral Sclerosis

(2013) C. Veyrat-Durebex et al.   MOLECULAR NEUROBIOLOGY

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

A novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis

(2013) Audrey Dangoumau et al.   NEUROBIOLOGY OF AGING

Developing Therapeutic Antibodies for Neurodegenerative Disease

(2013) Y. Joy Yu et al.   Neurotherapeutics

Immunotherapy for neurodegenerative diseases: Focus on α-synucleinopathies

(2013) Elvira Valera et al.   PHARMACOLOGY & THERAPEUTICS

The role of heat shock proteins in Amyotrophic Lateral Sclerosis: The therapeutic potential of Arimoclomol

(2013) Bernadett Kalmar et al.   PHARMACOLOGY & THERAPEUTICS

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

(2013) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rab35: GEFs, GAPs and Effectors

(2013) Mathilde Chaineau et al.   TRAFFIC

The FIG4 gene does not play a major role in causing ALS in Italian patients

(2013) Simonetta Verdiani et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

SQSTM1Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

(2013) Isabelle Le Ber   JAMA Neurology

Endoplasmic reticulum stress and the ER mitochondria calcium cycle in amyotrophic lateral sclerosis

(2012) Janin Lautenschlaeger et al.   Amyotrophic Lateral Sclerosis

Ubiquilins in the crosstalk among proteolytic pathways

(2012) Dong Yun Lee et al.   BIOLOGICAL CHEMISTRY

Bortezomib/proteasome inhibitor triggers both apoptosis and autophagy-dependent pathways in melanoma cells

(2012) Denis Selimovic et al.   CELLULAR SIGNALLING

RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations

(2012) J. G. Daigle et al.   HUMAN MOLECULAR GENETICS

ATG8 Family Proteins Act as Scaffolds for Assembly of the ULK Complex

(2012) Endalkachew Ashenafi Alemu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Motor Neuron-specific Disruption of Proteasomes, but Not Autophagy, Replicates Amyotrophic Lateral Sclerosis

(2012) Yoshitaka Tashiro et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Autophagy receptors link myosin VI to autophagosomes to mediate Tom1-dependent autophagosome maturation and fusion with the lysosome

(2012) David A. Tumbarello et al.   NATURE CELL BIOLOGY

Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese

(2012) Aritoshi Iida et al.   NEUROBIOLOGY OF AGING

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

(2012) Kelly L. Williams et al.   NEUROBIOLOGY OF AGING

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

A cyclin without cyclin-dependent kinases: cyclin F controls genome stability through ubiquitin-mediated proteolysis

(2012) Vincenzo D’Angiolella et al.   TRENDS IN CELL BIOLOGY

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

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Regulation of Autophagy by Neuropathological Protein TDP-43

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

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

(2011) R. Del Bo et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

Conjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUS

(2011) D. Ito et al.   NEUROLOGY

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

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

(2011) P. Wild et al.   SCIENCE

TBK1 Mediates Crosstalk Between the Innate Immune Response and Autophagy

(2011) H. Weidberg et al.   Science Signaling

Molecular Determinants and Genetic Modifiers of Aggregation and Toxicity for the ALS Disease Protein FUS/TLS

(2011) Zhihui Sun et al.   PLOS BIOLOGY

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

Endoplasmic reticulum associated protein degradation: A chaperone assisted journey to hell

(2010) Alexandra Stolz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Calcium dysregulation in amyotrophic lateral sclerosis

(2010) Julian Grosskreutz et al.   CELL CALCIUM

The role of the Atg1/ULK1 complex in autophagy regulation

(2010) Noboru Mizushima   CURRENT OPINION IN CELL BIOLOGY

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

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

The small heat shock protein B8 (HspB8) promotes autophagic removal of misfolded proteins involved in amyotrophic lateral sclerosis (ALS)

(2010) Valeria Crippa et al.   HUMAN MOLECULAR GENETICS

Characterization of the Properties of a Novel Mutation in VAPB in Familial Amyotrophic Lateral Sclerosis

(2010) Han-Jou Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

(2010) S. Millecamps et al.   JOURNAL OF MEDICAL GENETICS

Intracerebroventricular infusion of monoclonal antibody or its derived Fab fragment against misfolded forms of SOD1 mutant delays mortality in a mouse model of ALS

(2010) Francois Gros-Louis et al.   JOURNAL OF NEUROCHEMISTRY

AAV-mediated expression of wild-type and ALS-linked mutant VAPB selectively triggers death of motoneurons through a Ca2+-dependent ER-associated pathway

(2010) Karine Langou et al.   JOURNAL OF NEUROCHEMISTRY

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The emerging complexity of protein ubiquitination

(2009) David Komander   BIOCHEMICAL SOCIETY TRANSACTIONS

A new subtype of frontotemporal lobar degeneration with FUS pathology

(2009) M. Neumann et al.   BRAIN

Autophagy: links with the proteasome

(2009) Trond Lamark et al.   CURRENT OPINION IN CELL BIOLOGY

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

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

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

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

What Was the Set of Ubiquitin and Ubiquitin-Like Conjugating Enzymes in the Eukaryote Common Ancestor?

(2009) Caroline Michelle et al.   JOURNAL OF MOLECULAR EVOLUTION

Sequestosome 1/p62 links familial ALS mutant SOD1 to LC3 via an ubiquitin-independent mechanism

(2009) Jozsef Gal et al.   JOURNAL OF NEUROCHEMISTRY

Dorfin ameliorates phenotypes in a transgenic mouse model of amyotrophic lateral sclerosis

(2009) Jun Sone et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Ebp1 sumoylation, regulated by TLS/FUS E3 ligase, is required for its anti-proliferative activity

(2009) S-M Oh et al.   ONCOGENE

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

ALS-linked mutant SOD1 induces ER stress- and ASK1-dependent motor neuron death by targeting Derlin-1

(2008) H. Nishitoh et al.   GENES & DEVELOPMENT

Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis†

(2008) Cristina Cheroni et al.   HUMAN MOLECULAR GENETICS

The Ubiquitin-Proteasome System Is a Key Component of the SUMO-2/3 Cycle

(2008) Joost Schimmel et al.   MOLECULAR & CELLULAR PROTEOMICS

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Spinal anterior horn cells in sporadic amyotrophic lateral sclerosis show ribosomal detachment from, and cisternal distention of the rough endoplasmic reticulum

(2008) K. Oyanagi et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Combined lithium and valproate treatment delays disease onset, reduces neurological deficits and prolongs survival in an amyotrophic lateral sclerosis mouse model

(2008) H.-L. Feng et al.   NEUROSCIENCE

Genome-Wide and Functional Annotation of Human E3 Ubiquitin Ligases Identifies MULAN, a Mitochondrial E3 that Regulates the Organelle's Dynamics and Signaling

(2008) Wei Li et al.   PLoS One

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Are the IKKs and IKK-related kinases TBK1 and IKK-ɛ similarly activated?

(2008) Tieu-Lan Chau et al.   TRENDS IN BIOCHEMICAL SCIENCES