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

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

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

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

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

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

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

Sporadic ALS with compound heterozygous mutations in the SQSTM1 gene

(2013) Hiroshi Shimizu et al.   ACTA NEUROPATHOLOGICA

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

(2013) Elisa Teyssou et al.   ACTA NEUROPATHOLOGICA

Behavioral effects of SQSTM1/p62 overexpression in mice: Support for a mitochondrial role in depression and anxiety

(2013) M. Lamar Seibenhener et al.   BEHAVIOURAL BRAIN RESEARCH

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB

(2013) Chun T Kwok et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Loss and gain of FUS function impair neuromuscular synaptic transmission in a genetic model of ALS

(2013) Gary A.B. Armstrong et al.   HUMAN MOLECULAR GENETICS

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

(2013) Edor Kabashi et al.   HUMAN MOLECULAR GENETICS

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis

(2013) YongPing Chen et al.   NEUROBIOLOGY OF AGING

Pharmacological reduction of ER stress protects against TDP-43 neuronal toxicity in vivo

(2013) Alexandra Vaccaro et al.   NEUROBIOLOGY OF DISEASE

Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis

(2013) M. Hirano et al.   NEUROLOGY

Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles

(2013) M. Sanhueza et al.   Biology Open

Early interneuron dysfunction in ALS: Insights from a mutantsod1zebrafish model

(2012) Alexander McGown et al.   ANNALS OF NEUROLOGY

Autophagy activation ameliorates neuronal pathogenesis of FTLD-U mice

(2012) I-Fang Wang et al.   Autophagy

p62/sequestosome 1 binds to TDP-43 in brains with frontotemporal lobar degeneration with TDP-43 inclusions

(2012) Kunikazu Tanji et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Neuromuscular effects of G93A-SOD1 expression in zebrafish

(2012) Stacey A Sakowski et al.   Molecular Neurodegeneration

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

Methylene Blue Protects against TDP-43 and FUS Neuronal Toxicity in C. elegans and D. rerio

(2012) Alexandra Vaccaro et al.   PLoS One

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

Zebrafish: A See-Through Host and a Fluorescent Toolbox to Probe Host–Pathogen Interaction

(2012) David M. Tobin et al.   PLoS Pathogens

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

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice

(2011) Anna Daroszewska et al.   HUMAN MOLECULAR GENETICS

Regulation of Autophagy by Neuropathological Protein TDP-43

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

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

(2011) Angeles Duran et al.   MOLECULAR CELL

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

An MND/ALS phenotype associated withC9orf72repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

(2011) Claire Troakes et al.   NEUROPATHOLOGY

FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis

(2011) Edor Kabashi et al.   PLoS Genetics

A genetic model of amyotrophic lateral sclerosis in zebrafish displays phenotypic hallmarks of motoneuron disease

(2010) T. Ramesh et al.   Disease Models & Mechanisms

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

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

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

In the swim of things: recent insights to neurogenetic disorders from zebrafish

(2010) Edor Kabashi et al.   TRENDS IN GENETICS

Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects

(2009) Kum-Loong Boon et al.   HUMAN MOLECULAR GENETICS

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

(2009) Edor Kabashi et al.   HUMAN MOLECULAR GENETICS

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

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish

(2008) Francois Gros-Louis et al.   HUMAN MOLECULAR GENETICS

Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration

(2008) J. Ramesh Babu et al.   JOURNAL OF NEUROCHEMISTRY