The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis (Q61038140)

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27 January 2019

title

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

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27 January 2019

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1

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13

Kevin Eggan

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27 January 2019

author name string

Aaron Burberry

2

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27 January 2019

Jin-Yuan Wang

3

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27 January 2019

Jackson Sandoe

4

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27 January 2019

Sulagna Ghosh

5

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27 January 2019

Namrata D Udeshi

6

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27 January 2019

Tanya Svinkina

7

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27 January 2019

Daniel A Mordes

8

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Joanie Mok

9

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Maura Charlton

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27 January 2019

Quan-Zhen Li

11

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27 January 2019

Steven A Carr

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publication date

27 June 2018

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27 January 2019

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27 January 2019

volume

32

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27 January 2019

issue

13-14

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27 January 2019

page(s)

929-943

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Antimyelin antibodies in neurologic diseases. Immunofluorescent demonstration

27 January 2019

cites work

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12 December 2020

Serum antibodies to L-type calcium channels in patients with amyotrophic lateral sclerosis

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12 December 2020

Vascular autoantibodies in amyotrophic lateral sclerosis

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Calcium current and charge movement of mammalian muscle: action of amyotrophic lateral sclerosis immunoglobulins

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Amyotrophic lateral sclerosis patient antibodies label Ca2+ channel alpha 1 subunit

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Serum autoantibodies to neurofilament proteins in sporadic amyotrophic lateral sclerosis.

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Control of V(D)J recombinational accessibility of the D beta 1 gene segment at the TCR beta locus by a germline promoter

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Passive transfer of purified IgG from patients with amyotrophic lateral sclerosis to mice results in degeneration of motor neurons accompanied by Ca 2+ enhancement

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Sensitive and viable identification of antigen-specific CD8+ T cells by a flow cytometric assay for degranulation

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Detection of T-cell degranulation: CD107a and b.

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CD107a as a functional marker for the identification of natural killer cell activity.

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ALS-IgG-induced selective motor neurone apoptosis in rat mixed primary spinal cord cultures

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Identification of autoantibody clusters that best predict lupus disease activity using glomerular proteome arrays

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12 December 2020

Calcium signaling pathways mediating synaptic potentiation triggered by amyotrophic lateral sclerosis IgG in motor nerve terminals.

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12 December 2020

Protein array autoantibody profiles for insights into systemic lupus erythematosus and incomplete lupus syndromes.

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12 December 2020

Lysosomes: fusion and function

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12 December 2020

Integral and associated lysosomal membrane proteins

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12 December 2020

Efficient targeting of expressed and silent genes in human ESCs and iPSCs using zinc-finger nucleases

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12 December 2020

Masitinib (AB1010), a potent and selective tyrosine kinase inhibitor targeting KIT

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12 December 2020

Bone Marrow-Derived Macrophages (BMM): Isolation and Applications

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12 December 2020

Autoimmunity in amyotrophic lateral sclerosis: past and present

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12 December 2020

Site-specific integration and tailoring of cassette design for sustainable gene transfer.

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12 December 2020

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

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12 December 2020

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

1 reference

12 December 2020

The changing scene of amyotrophic lateral sclerosis

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12 December 2020

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

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12 December 2020

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

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12 December 2020

DNA targeting specificity of RNA-guided Cas9 nucleases

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12 December 2020

Autoimmune disease preceding amyotrophic lateral sclerosis: an epidemiologic study

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12 December 2020

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

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12 December 2020

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

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12 December 2020

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

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12 December 2020

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

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12 December 2020

The Roles of Lysosomes in Inflammation and Autoimmune Diseases

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12 December 2020

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

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12 December 2020

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

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12 December 2020

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

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12 December 2020

C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.

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12 December 2020

C9orf72 is required for proper macrophage and microglial function in mice

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12 December 2020

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death

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12 December 2020

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

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12 December 2020

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.

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12 December 2020

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

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12 December 2020

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

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12 December 2020

C9ORF72 is a GDP/GTP exchange factor for Rab8 and Rab39 and regulates autophagy

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12 December 2020

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

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12 December 2020

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

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12 December 2020

Increased prevalence of autoimmune disease within C9 and FTD/MND cohorts: Completing the picture

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12 December 2020

Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling

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12 December 2020

Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator

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12 December 2020

Genome-scale activation screen identifies a lncRNA locus regulating a gene neighbourhood

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12 December 2020

Erratum: Genome-scale activation screen identifies a lncRNA locus regulating a gene neighbourhood.

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12 December 2020

Immune Modulation in the Treatment of Amyotrophic Lateral Sclerosis: A Review of Clinical Trials

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12 December 2020

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

1 reference

12 December 2020

A C9orf72 ALS/FTD Ortholog Acts in Endolysosomal Degradation and Lysosomal Homeostasis

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12 December 2020

Identifiers

DOI

10.1101/GAD.313932.118

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27 January 2019

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27 January 2019

PubMed publication ID

29950492

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