Cell-autonomous immune dysfunction driven by disrupted autophagy in C9orf72 -ALS iPSC-derived microglia contributes to neurodegeneration

Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis

(2021) Arpan R. Mehta et al.   ACTA NEUROPATHOLOGICA

C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation

(2021) Deepti Lall et al.   NEURON

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

(2020) Manon Boivin et al.   EMBO JOURNAL

A Genome-wide ER-phagy Screen Highlights Key Roles of Mitochondrial Metabolism and ER-Resident UFMylation

(2020) Jin Rui Liang et al.   CELL

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

(2020) Qiang Zhu et al.   NATURE NEUROSCIENCE

Microglia clear neuron-released α-synuclein via selective autophagy and prevent neurodegeneration

(2020) Insup Choi et al.   Nature Communications

Motor cortex transcriptome reveals microglial key events in amyotrophic lateral sclerosis

(2020) Oriol Dols-Icardo et al.   Neurology-Neuroimmunology & Neuroinflammation

Impaired autophagy in microglia aggravates dopaminergic neurodegeneration by regulating NLRP3 inflammasome activation in experimental models of Parkinson’s disease

(2020) Yue Qin et al.   BRAIN BEHAVIOR AND IMMUNITY

C9orf72 in myeloid cells suppresses STING-induced inflammation

(2020) Madelyn E. McCauley et al.   NATURE

UFMylation inhibits the proinflammatory capacity of interferon-γ–activated macrophages

(2020) Dale R. Balce et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Generation of pure monocultures of human microglia-like cells from induced pluripotent stem cells

(2020) Poulomi Banerjee et al.   Stem Cell Research

Beclin1‐driven autophagy modulates the inflammatory response of microglia via NLRP3

(2019) Judith Houtman et al.   EMBO JOURNAL

Clinical audit research and evaluation of motor neuron disease (CARE-MND): a national electronic platform for prospective, longitudinal monitoring of MND in Scotland

(2019) Danielle Leighton et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

ATG5-mediated autophagy suppresses NF-κB signaling to limit epithelial inflammatory response to kidney injury

(2019) Xuan Peng et al.   Cell Death & Disease

Autophagy induction via STING trafficking is a primordial function of the cGAS pathway

(2019) Xiang Gui et al.   NATURE

Activation of PPARA-mediated autophagy reduces Alzheimer disease-like pathology and cognitive decline in a murine model

(2019) Rongcan Luo et al.   Autophagy

The ALS-FTD-linked gene product, C9orf72, regulates neuronal morphogenesis via autophagy

(2019) Wan Yun Ho et al.   Autophagy

Small molecule-driven NLRP3 inflammation inhibition via interplay between ubiquitination and autophagy: implications for Parkinson disease

(2019) Xiaojuan Han et al.   Autophagy

LC3-Associated Endocytosis Facilitates β-Amyloid Clearance and Mitigates Neurodegeneration in Murine Alzheimer’s Disease

(2019) Bradlee L. Heckmann et al.   CELL

LC3-positive structures are prominent in autophagy-deficient cells

(2019) Gautam Runwal et al.   Scientific Reports

The microglial NLRP3 inflammasome is activated by amyotrophic lateral sclerosis proteins

(2019) Vandana Deora et al.   GLIA

PPM1H phosphatase counteracts LRRK2 signaling by selectively dephosphorylating Rab proteins

(2019) Kerryn Berndsen et al.   eLife

Autophagy Induction as a Therapeutic Strategy for Neurodegenerative Diseases

(2019) Alvin Djajadikerta et al.   JOURNAL OF MOLECULAR BIOLOGY

Nucleo-cytoplasmic transport of TDP-43 studied in real time: impaired microglia function leads to axonal spreading of TDP-43 in degenerating motor neurons

(2018) Adam J. Svahn et al.   ACTA NEUROPATHOLOGICA

Autophagy balances inflammation in innate immunity

(2018) Vojo Deretic et al.   Autophagy

The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis

(2018) Yingying Zhang et al.   GENES & DEVELOPMENT

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

Role of Myeloid Lineage Cell Autophagy in Ischemic Brain Injury

(2018) Masakazu Kotoda et al.   STROKE

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

(2018) Bhuvaneish T. Selvaraj et al.   Nature Communications

Parkin and PINK1 mitigate STING-induced inflammation

(2018) Danielle A. Sliter et al.   NATURE

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

Rapamycin treatment increases hippocampal cell viability in an mTOR-independent manner during exposure to hypoxia mimetic, cobalt chloride

(2018) Mary A. Zimmerman et al.   BMC NEUROSCIENCE

Excessive endosomal TLR signaling causes inflammatory disease in mice with defective SMCR8-WDR41-C9ORF72 complex function

(2018) William McAlpine et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Atg7 Deficiency Intensifies Inflammasome Activation and Pyroptosis inPseudomonasSepsis

(2017) Qinqin Pu et al.   JOURNAL OF IMMUNOLOGY

Rapid Molecular Profiling of Defined Cell Types Using Viral TRAP

(2017) Alexander R. Nectow et al.   Cell Reports

The Enigmatic Role of C9ORF72 in Autophagy

(2017) Melissa Nassif et al.   Frontiers in Neuroscience

A Highly Efficient Human Pluripotent Stem Cell Microglia Model Displays a Neuronal-Co-culture-Specific Expression Profile and Inflammatory Response

(2017) Walther Haenseler et al.   Stem Cell Reports

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

(2016) Christopher P Webster et al.   EMBO JOURNAL

The Perseus computational platform for comprehensive analysis of (prote)omics data

(2016) Stefka Tyanova et al.   NATURE METHODS

The MaxQuant computational platform for mass spectrometry-based shotgun proteomics

(2016) Stefka Tyanova et al.   Nature Protocols

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

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

(2016) M. Yang et al.   Science Advances

Low autophagy capacity implicated in motor system vulnerability to mutant superoxide dismutase

(2016) Eiichi Tokuda et al.   Acta Neuropathologica Communications

C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers

(2016) Patrizia Rizzu et al.   Acta Neuropathologica Communications

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

RCAD/Ufl1, a Ufm1 E3 ligase, is essential for hematopoietic stem cell function and murine hematopoiesis

(2015) M Zhang et al.   CELL DEATH AND DIFFERENTIATION

NLRP3 inflammasome is expressed by astrocytes in the SOD1 mouse model of ALS and in human sporadic ALS patients

(2015) Sonja Johann et al.   GLIA

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Autophagy in microglia degrades extracellular β-amyloid fibrils and regulates the NLRP3 inflammasome

(2014) Mi-Hyang Cho et al.   Autophagy

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

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

The IκB kinase complex in NF-κB regulation and beyond

(2013) Michael Hinz et al.   EMBO REPORTS

The CRAPome: a contaminant repository for affinity purification–mass spectrometry data

(2013) Dattatreya Mellacheruvu et al.   NATURE METHODS

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

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

(2013) Shuo-Chien Ling et al.   NEURON

Activation of autophagy by inflammatory signals limits IL-1β production by targeting ubiquitinated inflammasomes for destruction

(2012) Chong-Shan Shi et al.   NATURE IMMUNOLOGY

Microglial Activation Correlates with Disease Progression and Upper Motor Neuron Clinical Symptoms in Amyotrophic Lateral Sclerosis

(2012) Johannes Brettschneider et al.   PLoS One

Autophagy in immunity and inflammation

(2011) Beth Levine et al.   NATURE

Clinical diagnosis and management of amyotrophic lateral sclerosis

(2011) Orla Hardiman et al.   Nature Reviews Neurology

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

(2011) Mariely DeJesus-Hernandez et al.   NEURON

The Inflammasomes

(2010) Kate Schroder et al.   CELL

Intracellular Toll-like Receptors

(2010) Amanda L. Blasius et al.   IMMUNITY

Enzymatic assembly of DNA molecules up to several hundred kilobases

(2009) Daniel G Gibson et al.   NATURE METHODS

Rapamycin and mTOR-independent autophagy inducers ameliorate toxicity of polyglutamine-expanded huntingtin and related proteinopathies

(2008) S Sarkar et al.   CELL DEATH AND DIFFERENTIATION