Golgi Fragmentation in ALS Motor Neurons. New Mechanisms Targeting Microtubules, Tethers, and Transport Vesicles

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

SEC16 in COPII coat dynamics at ER exit sites

(2015) Joep Sprangers et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

The BioPlex Network: A Systematic Exploration of the Human Interactome

(2015) Edward L. Huttlin et al.   CELL

Dysregulated miRNA biogenesis downstream of cellular stress and ALS-causing mutations: a new mechanism for ALS

(2015) A. Emde et al.   EMBO JOURNAL

TDP-43 in amyotrophic lateral sclerosis - is it a prion disease?

(2015) A. C. Ludolph et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

Autophagy receptor defects and ALS-FTLD

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

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

Long noncoding RNAs in TDP-43 and FUS/TLS-related frontotemporal lobar degeneration (FTLD)

(2015) Guinevere F. Lourenco et al.   NEUROBIOLOGY OF DISEASE

Uncoupling of Protein Aggregation and Neurodegeneration in a Mouse Amyotrophic Lateral Sclerosis Model

(2015) Joo-Yong Lee et al.   Neurodegenerative Diseases

Building the Neuronal Microtubule Cytoskeleton

(2015) Lukas C. Kapitein et al.   NEURON

Review: Prion-like mechanisms of transactive response DNA binding protein of 43 kDa (TDP-43) in amyotrophic lateral sclerosis (ALS)

(2015) Phillip Smethurst et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

(2015) Emma L. Scotter et al.   Neurotherapeutics

Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein

(2015) Lilian A. Martinez-Carrera et al.   Frontiers in Neuroscience

Cytoplasmic dynein and its regulatory proteins in Golgi pathology in nervous system disorders

(2015) Dick Jaarsma et al.   Frontiers in Neuroscience

The Golgi complex in stress and death

(2015) Carolyn E. Machamer   Frontiers in Neuroscience

Diversifying the secretory routes in neurons

(2015) José I. Valenzuela et al.   Frontiers in Neuroscience

Nucleation and Dynamics of Golgi-derived Microtubules

(2015) Anna A. W. M. Sanders et al.   Frontiers in Neuroscience

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

Toward a Comprehensive Map of the Effectors of Rab GTPases

(2014) Alison K. Gillingham et al.   DEVELOPMENTAL CELL

Golgi fragmentation in pmn mice is due to a defective ARF1/TBCE cross-talk that coordinates COPI vesicle formation and tubulin polymerization

(2014) Sarah Bellouze 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

Adaptor proteins involved in polarized sorting

(2014) Juan S. Bonifacino   JOURNAL OF CELL BIOLOGY

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Organelle-specific initiation of cell death

(2014) Lorenzo Galluzzi et al.   NATURE CELL BIOLOGY

TDP-43 in ALS: Stay on Target…Almost There

(2014) Ana Jovičić et al.   NEURON

Microtubule Minus-End Binding Protein CAMSAP2 Controls Axon Specification and Dendrite Development

(2014) Kah Wai Yau et al.   NEURON

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

The centrosome-Golgi apparatus nexus

(2014) R. M. Rios   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

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

ER–mitochondria associations are regulated by the VAPB–PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43

(2014) Radu Stoica et al.   Nature Communications

GRASP65 controls the cis Golgi integrity in vivo

(2014) T. Veenendaal et al.   Biology Open

Golgi fragmentation precedes neuromuscular denervation and is associated with endosome abnormalities in SOD1-ALS mouse motor neurons

(2014) Vera van Dis et al.   Acta Neuropathologica Communications

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

(2013) Kristien Peeters et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

(2013) Kornelia Neveling et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

(2013) Jon Beck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

(2013) Timothy P. Levine et al.   BIOINFORMATICS

A Four-Step Cycle Driven by PI(4)P Hydrolysis Directs Sterol/PI(4)P Exchange by the ER-Golgi Tether OSBP

(2013) Bruno Mesmin et al.   CELL

COPII — a flexible vesicle formation system

(2013) Elizabeth A Miller et al.   CURRENT OPINION IN CELL BIOLOGY

Rab GTPase regulation of membrane identity

(2013) Suzanne R Pfeffer   CURRENT OPINION IN CELL BIOLOGY

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

Mutation of the TBCE gene causes disturbance of microtubules in the auditory nerve and cochlear outer hair cell degeneration accompanied by progressive hearing loss in the pmn/pmn mouse

(2013) Kristen Rak et al.   EXPERIMENTAL NEUROLOGY

Identification and characterization of a neuron-specific isoform of protrudin

(2013) Takafumi Ohnishi et al.   GENES TO CELLS

Golgi as an MTOC: making microtubules for its own good

(2013) Xiaodong Zhu et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein α-COP and neurite outgrowth in a cell culture model of spinal muscular atrophy

(2013) Sara K. Custer et al.   HUMAN MOLECULAR GENETICS

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

(2013) O. Dols-Icardo 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

Repeat-associated non-ATG (RAN) translation in neurological disease

(2013) J. D. Cleary et al.   HUMAN MOLECULAR GENETICS

Stress granules as crucibles of ALS pathogenesis

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

Mutant SOD1 inhibits ER-Golgi transport in amyotrophic lateral sclerosis

(2013) Julie D. Atkin et al.   JOURNAL OF NEUROCHEMISTRY

Isoform-specific tethering links the Golgi ribbon to maintain compartmentalization

(2013) Timothy Jarvela et al.   MOLECULAR BIOLOGY OF THE CELL

The changing scene of amyotrophic lateral sclerosis

(2013) Wim Robberecht et al.   NATURE REVIEWS NEUROSCIENCE

C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration

(2013) E. Gomez-Tortosa et al.   NEUROLOGY

TDP-43 pathology in polyglutamine diseases: With reference to amyotrphic lateral sclerosis

(2013) Yasuko Toyoshima et al.   NEUROPATHOLOGY

The Golgin Tether Giantin Regulates the Secretory Pathway by Controlling Stack Organization within Golgi Apparatus

(2013) Mayuko Koreishi et al.   PLoS One

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

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Hopping rim to rim through the Golgi

(2013) Suzanne R Pfeffer   eLife

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

(2013) Marijn Kuijpers et al.   Acta Neuropathologica Communications

Rodent models of TDP-43: Recent advances

(2012) William Tsao et al.   BRAIN RESEARCH

Misregulated RNA processing in amyotrophic lateral sclerosis

(2012) Magdalini Polymenidou et al.   BRAIN RESEARCH

TDP-43 aggregation in neurodegeneration: Are stress granules the key?

(2012) Colleen M. Dewey et al.   BRAIN RESEARCH

Are Rab proteins the link between Golgi organization and membrane trafficking?

(2012) Shijie Liu et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Structural basis for Arl3-specific release of myristoylated ciliary cargo from UNC119

(2012) Shehab A Ismail et al.   EMBO JOURNAL

Golgi fragmentation is Rab and SNARE dependent in cellular models of Parkinson’s disease

(2012) Wilson O. Rendón et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Amyotrophic lateral sclerosis-associated mutant VAPBP56S perturbs calcium homeostasis to disrupt axonal transport of mitochondria

(2012) G. M. Morotz et al.   HUMAN MOLECULAR GENETICS

COPI transport complexes bind to specific RNAs in neuronal cells

(2012) Adrian G. Todd et al.   HUMAN MOLECULAR GENETICS

Autophagy and Its Comprehensive Impact on ALS

(2012) Cheng-yuan Song et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Restructured endoplasmic reticulum generated by mutant amyotrophic lateral sclerosis-linked VAPB is cleared by the proteasome

(2012) G. Papiani et al.   JOURNAL OF CELL SCIENCE

Irradiation-induced protein inactivation reveals Golgi enzyme cycling to cell periphery

(2012) Timothy Jarvela et al.   JOURNAL OF CELL SCIENCE

XBP1 depletion precedes ubiquitin aggregation and Golgi fragmentation in TDP-43 transgenic rats

(2012) Jianbin Tong et al.   JOURNAL OF NEUROCHEMISTRY

Formation of Golgi-Derived Active Zone Precursor Vesicles

(2012) C. Maas et al.   JOURNAL OF NEUROSCIENCE

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

(2012) Clotilde Lagier-Tourenne et al.   NATURE NEUROSCIENCE

Decreased stathmin expression ameliorates neuromuscular defects but fails to prolong survival in a mouse model of spinal muscular atrophy

(2012) Hsin-Lan Wen et al.   NEUROBIOLOGY OF DISEASE

The Spinal Muscular Atrophy Disease Protein SMN Is Linked to the Golgi Network

(2012) Chen-Hung Ting et al.   PLoS One

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

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

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

(2012) Dapeng Zhang et al.   Frontiers in Genetics

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

The multiple facets of the Golgi reassembly stacking proteins

(2011) Fabian P. Vinke et al.   BIOCHEMICAL JOURNAL

ESCRT functions in autophagy and associated disease

(2011) Tor Erik Rusten et al.   CELL CYCLE

The COPI vesicle complex binds and moves with survival motor neuron within axons

(2011) Cyril Jayakumar Peter et al.   HUMAN MOLECULAR GENETICS

VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis

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

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

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

(2011) Edward B. Lee et al.   NATURE REVIEWS NEUROSCIENCE

Microtubules are organized independently from the centrosome in Drosophila neurons

(2011) Michelle M Nguyen et al.   Neural Development

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

The endoplasmic reticulum and protein trafficking in dendrites and axons

(2011) Omar A. Ramírez et al.   TRENDS IN CELL BIOLOGY

Organization of SNAREs within the Golgi Stack

(2011) J. Malsam et al.   Cold Spring Harbor Perspectives in Biology

The Golgin Coiled-Coil Proteins of the Golgi Apparatus

(2011) S. Munro   Cold Spring Harbor Perspectives in Biology

COPI Budding within the Golgi Stack

(2011) V. Popoff et al.   Cold Spring Harbor Perspectives in Biology

Amyotrophic Lateral Sclerosis Pathogenesis: A Journey Through the Secretory Pathway

(2010) Melissa Nassif et al.   ANTIOXIDANTS & REDOX SIGNALING

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

(2010) AD Funke et al.   CLINICAL GENETICS

Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy†

(2010) Hsin-Lan Wen et al.   HUMAN MOLECULAR GENETICS

GRASP55 and GRASP65 play complementary and essential roles in Golgi cisternal stacking

(2010) Yi Xiang et al.   JOURNAL OF CELL BIOLOGY

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Morphological changes of Golgi apparatus in adult rats after facial nerve injuries

(2010) Yukio Fujita et al.   NEUROPATHOLOGY

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

Scyl1 Regulates Golgi Morphology

(2010) Jonathon L. Burman et al.   PLoS One

Axon Extension Occurs Independently of Centrosomal Microtubule Nucleation

(2010) M. Stiess et al.   SCIENCE

Caspase cleavage of the Golgi stacking factor GRASP65 is required for Fas/CD95-mediated apoptosis

(2010) J P X Cheng et al.   Cell Death & Disease

Membrane Traffic Within the Golgi Apparatus

(2009) Benjamin S. Glick et al.   Annual Review of Cell and Developmental Biology

Drosophila Tubulin-specific chaperone E functions at neuromuscular synapses and is required for microtubule network formation

(2009) S. Jin et al.   DEVELOPMENT

Microtubule nucleation at the cis-side of the Golgi apparatus requires AKAP450 and GM130

(2009) Sabrina Rivero et al.   EMBO JOURNAL

A VAPB mutant linked to amyotrophic lateral sclerosis generates a novel form of organized smooth endoplasmic reticulum

(2009) Elisa Fasana et al.   FASEB JOURNAL

The COPI system: Molecular mechanisms and function

(2009) R. Beck et al.   FEBS LETTERS

Promotion of Neurite Extension by Protrudin Requires Its Interaction with Vesicle-associated Membrane Protein-associated Protein

(2009) Shotaro Saita et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Early endosomes and endosomal coatomer are required for autophagy

(2009) Minoo Razi et al.   JOURNAL OF CELL BIOLOGY

Dual Roles of the Mammalian GARP Complex in Tethering and SNARE Complex Assembly at the trans-Golgi Network

(2009) F. J. Perez-Victoria et al.   MOLECULAR AND CELLULAR BIOLOGY

Golgi-derived CLASP-dependent microtubules control Golgi organization and polarized trafficking in motile cells

(2009) Paul M. Miller et al.   NATURE CELL BIOLOGY

Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex

(2008) Stefan Veltel et al.   FEBS LETTERS

Scyl1, Mutated in a Recessive Form of Spinocerebellar Neurodegeneration, Regulates COPI-mediated Retrograde Traffic

(2008) Jonathon L. Burman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Anterior horn cells with abnormal TDP-43 immunoreactivities show fragmentation of the Golgi apparatus in ALS

(2008) Yukio Fujita et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

(2008) Vivianna M Van Deerlin et al.   LANCET NEUROLOGY

Coat-Tether Interaction in Golgi Organization

(2008) Yusong Guo et al.   MOLECULAR BIOLOGY OF THE CELL

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

Requirement of the Human GARP Complex for Mannose 6-phosphate-receptor-dependent Sorting of Cathepsin D to Lysosomes

(2008) F. Javier Pérez-Victoria et al.   MOLECULAR BIOLOGY OF THE CELL

Vesicle associated membrane protein B (VAPB) is decreased in ALS spinal cord

(2008) Georgia Anagnostou et al.   NEUROBIOLOGY OF AGING

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

(2008) Anuradha Ratnaparkhi et al.   PLoS One

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

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

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

The Golgi Protein GM130 Regulates Centrosome Morphology and Function

(2007) Andrew Kodani et al.   MOLECULAR BIOLOGY OF THE CELL

Protein trafficking mechanisms associated with neurite outgrowth and polarized sorting in neurons

(2003) Bor Luen Tang   JOURNAL OF NEUROCHEMISTRY