Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation

Sigma 1 receptor as a therapeutic target for Amyotrophic Lateral Sclerosis

(2020) Mireia Herrando‐Grabulosa et al.   BRITISH JOURNAL OF PHARMACOLOGY

CALCOCO 1 acts with VAMP ‐associated proteins to mediate ER ‐phagy

(2020) Thaddaeus Mutugi Nthiga et al.   EMBO JOURNAL

FUS pathology in ALS is linked to alterations in multiple ALS-associated proteins and rescued by drugs stimulating autophagy

(2019) Lara Marrone et al.   ACTA NEUROPATHOLOGICA

The ER Contact Proteins VAPA/B Interact with Multiple Autophagy Proteins to Modulate Autophagosome Biogenesis

(2018) Yan G. Zhao et al.   CURRENT BIOLOGY

Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation

(2018) Marcel Naumann et al.   Nature Communications

Phosphorylated TDP-43 (pTDP-43) aggregates in the axial skeletal muscle of patients with sporadic and familial amyotrophic lateral sclerosis

(2018) Matthew D. Cykowski et al.   Acta Neuropathologica Communications

Defective mitochondrial and lysosomal trafficking in chorea-acanthocytosis is independent of Src-kinase signaling

(2018) Hannes Glaß et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Phosphorylation of ULK1 affects autophagosome fusion and links chaperone-mediated autophagy to macroautophagy

(2018) Chenyao Wang et al.   Nature Communications

RNA binding proteins co-localize with small tau inclusions in tauopathy

(2018) Brandon F. Maziuk et al.   Acta Neuropathologica Communications

RNA-binding proteins in neurodegeneration: mechanisms in aggregate

(2017) Erin G. Conlon et al.   GENES & DEVELOPMENT

RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration

(2017) Daisuke Ito et al.   Science Translational Medicine

Granulostasis: Protein Quality Control of RNP Granules

(2017) Simon Alberti et al.   Frontiers in Molecular Neuroscience

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

(2016) Daniel J Klionsky et al.   Autophagy

Stress granules at the intersection of autophagy and ALS

(2016) Zachary Monahan et al.   BRAIN RESEARCH

Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1

(2016) Simona Capponi et al.   HUMAN MUTATION

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

Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS

(2015) Audrey Filézac de L'Etang et al.   NATURE NEUROSCIENCE

SIL1-related Marinesco–Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder

(2015) Susan Byrne et al.   NEUROMUSCULAR DISORDERS

Accumulation of STIM1 is associated with the degenerative muscle fibre phenotype in ALS and other neurogenic atrophies

(2015) Anand Goswami et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art

(2015) Matthew J. Walsh et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord

(2014) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes

(2014) Daniel J. Klionsky et al.   Autophagy

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

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

A census of human RNA-binding proteins

(2014) Stefanie Gerstberger et al.   NATURE REVIEWS GENETICS

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

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

mRNP granules

(2014) J Ross Buchan   RNA Biology

Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

(2013) Andreas Roos et al.   ACTA NEUROPATHOLOGICA

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

(2013) Michael Krieger et al.   BRAIN

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

(2013) J. Ross Buchan et al.   CELL

Altered Ribostasis: RNA-Protein Granules in Degenerative Disorders

(2013) Mani Ramaswami et al.   CELL

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

(2013) Edor Kabashi et al.   HUMAN MOLECULAR GENETICS

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

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

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

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

(2013) Shuo-Chien Ling et al.   NEURON

More than a bystander: the contributions of intrinsic skeletal muscle defects in motor neuron diseases

(2013) Justin G. Boyer et al.   Frontiers in Physiology

Amyotrophic lateral sclerosis (ALS)-associated VAPB-P56S inclusions represent an ER quality control compartment

(2013) Marijn Kuijpers et al.   Acta Neuropathologica Communications

easyFRAP: an interactive, easy-to-use tool for qualitative and quantitative analysis of FRAP data

(2012) Maria Anna Rapsomaniki et al.   BIOINFORMATICS

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

(2012) Eisuke Itakura et al.   CELL

A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect

(2012) Duvinh Tran et al.   JOURNAL OF CELL SCIENCE

Regulated protein aggregation: stress granules and neurodegeneration

(2012) Benjamin Wolozin   Molecular Neurodegeneration

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

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients

(2011) Miguel Mitne-Neto et al.   HUMAN MOLECULAR GENETICS

Amyotrophic lateral sclerosis-linked mutant VAPB enhances TDP-43-induced motor neuronal toxicity

(2011) Hiroaki Suzuki et al.   JOURNAL OF NEUROCHEMISTRY

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

(2011) Zhihui Sun et al.   PLOS BIOLOGY

Novel splice variants of the amyotrophic lateral sclerosis-associated gene VAPB expressed in human tissues

(2010) T. Nachreiner et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The p.P56S mutation in theVAPBgene is not due to a single founder: the first European case

(2010) AD Funke et al.   CLINICAL GENETICS

Amyotrophic lateral sclerosis mutant vesicle-associated membrane protein-associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathology

(2010) E.L. Tudor et al.   NEUROSCIENCE

In search of an “autophagomometer”

(2009) David C. Rubinsztein et al.   Autophagy

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

(2009) Xiaoju Wang et al.   NEUROSCIENCE LETTERS

VAPB interacts with and modulates the activity of ATF6

(2008) C. Gkogkas et al.   HUMAN MOLECULAR GENETICS

FFAT rescues VAPA-mediated inhibition of ER-to-Golgi transport and VAPB-mediated ER aggregation

(2008) D. C. Prosser et al.   JOURNAL OF CELL SCIENCE

ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB

(2008) Hiroaki Suzuki et al.   JOURNAL OF NEUROCHEMISTRY

Coordinated Lipid Transfer between the Endoplasmic Reticulum and the Golgi Complex Requires the VAP Proteins and Is Essential for Golgi-mediated Transport

(2008) Diego Peretti et al.   MOLECULAR BIOLOGY OF THE CELL

Atg8 Controls Phagophore Expansion during Autophagosome Formation

(2008) Zhiping Xie et al.   MOLECULAR BIOLOGY OF THE CELL

BAC TransgeneOmics: a high-throughput method for exploration of protein function in mammals

(2008) Ina Poser et al.   NATURE METHODS

A Drosophila Model of ALS: Human ALS-Associated Mutation in VAP33A Suggests a Dominant Negative Mechanism

(2008) Anuradha Ratnaparkhi et al.   PLoS One

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

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