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Search results 1 to 100 out of 425 for C9orf72

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Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: chimpanzee
Protein Domain
Type: Family
Description: The entry includes Guanine nucleotide exchange factor C9orf72 protein, a component of the C9orf72-SMCR8 complex, which has guanine nucleotide exchange factor activity []and regulates autophagy [, ]. The C9orf72 protein is proposed to be a catalytic component for the exchange of GDP to GTP and promoting autophagosome maturation by converting inactive GDP-bound RAB8A and RAB39B into their active forms []. Defects in the C9orf72 gene are the cause of frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS) which is an autosomal dominant neurodegenerative disorder. The disorder is caused by a large expansion of a GGGGCC hexanucleotide within the first C9orf72 intron located between the first and the second non-coding exons. The expansion leads to the loss of transcription of one of the two transcripts encoding isoform 1 and to the formation of nuclear RNA foci []. This family is found in eukaryotes.C9orf72 contains the DENN domain, which forms a heart-shaped structure (), with the N-terminal residues forming one lobe and the C-terminal residues forming the second one. The tripartite DENN (after differentially expressed in neoplastic versus normal cells) domain is found in several proteins that share common structural features and have been shown to be guanine nucleotide exchange factors (GEFs) for Rab GTPases, which are regulators of practically all membrane trafficking events in eukaryotes [, ].
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Publication
First Author: Sullivan PM
Year: 2016
Journal: Acta Neuropathol Commun
Title: The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway.
Volume: 4
Issue: 1
Pages: 51
Protein
Organism: Mus musculus/domesticus
Length: 481  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 317  
Fragment?: false
Publication
First Author: DeJesus-Hernandez M
Year: 2011
Journal: Neuron
Title: Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
Volume: 72
Issue: 2
Pages: 245-56
Publication
First Author: Sellier C
Year: 2016
Journal: EMBO J
Title: Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.
Volume: 35
Issue: 12
Pages: 1276-97
Protein
Organism: Mus musculus/domesticus
Length: 317  
Fragment?: false
Publication
First Author: Tang D
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: Cryo-EM structure of C9ORF72-SMCR8-WDR41 reveals the role as a GAP for Rab8a and Rab11a.
Volume: 117
Issue: 18
Pages: 9876-9883
Publication
First Author: Nörpel J
Year: 2021
Journal: PLoS Biol
Title: Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture.
Volume: 19
Issue: 7
Pages: e3001344
Publication  
First Author: Atkinson RA
Year: 2015
Journal: Acta Neuropathol Commun
Title: C9ORF72 expression and cellular localization over mouse development.
Volume: 3
Pages: 59
Publication    
First Author: Jung J
Year: 2017
Journal: Elife
Title: Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator.
Volume: 6
Publication
First Author: Sivadasan R
Year: 2016
Journal: Nat Neurosci
Title: C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons.
Volume: 19
Issue: 12
Pages: 1610-1618
Publication
First Author: O'Rourke JG
Year: 2016
Journal: Science
Title: C9orf72 is required for proper macrophage and microglial function in mice.
Volume: 351
Issue: 6279
Pages: 1324-9
Publication
First Author: Burberry A
Year: 2016
Journal: Sci Transl Med
Title: Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease.
Volume: 8
Issue: 347
Pages: 347ra93
Publication
First Author: Koppers M
Year: 2015
Journal: Ann Neurol
Title: C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.
Volume: 78
Issue: 3
Pages: 426-38
Publication
First Author: Wu X
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Insights regarding guanine nucleotide exchange from the structure of a DENN-domain protein complexed with its Rab GTPase substrate.
Volume: 108
Issue: 46
Pages: 18672-7
Publication
First Author: Pang W
Year: 2023
Journal: iScience
Title: C9ORF72 suppresses JAK-STAT mediated inflammation.
Volume: 26
Issue: 5
Pages: 106579
Publication
First Author: Hendricks E
Year: 2023
Journal: Cell Rep
Title: The C9ORF72 repeat expansion alters neurodevelopment.
Volume: 42
Issue: 8
Pages: 112983
Publication
First Author: Ugolino J
Year: 2016
Journal: PLoS Genet
Title: Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling.
Volume: 12
Issue: 11
Pages: e1006443
Publication
First Author: Xiao S
Year: 2019
Journal: Acta Neuropathol Commun
Title: Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels.
Volume: 7
Issue: 1
Pages: 161
Publication
First Author: McCauley ME
Year: 2020
Journal: Nature
Title: C9orf72 in myeloid cells suppresses STING-induced inflammation.
Volume: 585
Issue: 7823
Pages: 96-101
Publication
First Author: Ferguson R
Year: 2016
Journal: J Anat
Title: Dynamic expression of the mouse orthologue of the human amyotropic lateral sclerosis associated gene C9orf72 during central nervous system development and neuronal differentiation.
Volume: 229
Issue: 6
Pages: 871-891
Publication
First Author: Liu Y
Year: 2016
Journal: Neuron
Title: C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD.
Volume: 90
Issue: 3
Pages: 521-34
Publication
First Author: Mordes DA
Year: 2020
Journal: Neuron
Title: Absence of Survival and Motor Deficits in 500 Repeat C9ORF72 BAC Mice.
Volume: 108
Issue: 4
Pages: 775-783.e4
Publication
First Author: Khosravi B
Year: 2020
Journal: EMBO J
Title: Cell-to-cell transmission of C9orf72 poly-(Gly-Ala) triggers key features of ALS/FTD.
Volume: 39
Issue: 8
Pages: e102811
Publication
First Author: Wang T
Year: 2021
Journal: Cell Metab
Title: C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly.
Volume: 33
Issue: 3
Pages: 531-546.e9
Publication
First Author: Amalyan S
Year: 2022
Journal: Cell Rep
Title: Enhanced motor cortex output and disinhibition in asymptomatic female mice with C9orf72 genetic expansion.
Volume: 40
Issue: 1
Pages: 111043
Gene
Type: gene
Organism: human
Publication
First Author: Burberry A
Year: 2020
Journal: Nature
Title: C9orf72 suppresses systemic and neural inflammation induced by gut bacteria.
Volume: 582
Issue: 7810
Pages: 89-94
Publication
First Author: Esanov R
Year: 2017
Journal: Mol Neurodegener
Title: A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD.
Volume: 12
Issue: 1
Pages: 46
Publication
First Author: Jiang J
Year: 2016
Journal: Neuron
Title: Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs.
Volume: 90
Issue: 3
Pages: 535-50
Publication
First Author: Suzuki N
Year: 2013
Journal: Nat Neurosci
Title: The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.
Volume: 16
Issue: 12
Pages: 1725-7
Publication
First Author: Lall D
Year: 2021
Journal: Neuron
Title: C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation.
Volume: 109
Issue: 14
Pages: 2275-2291.e8
Publication
First Author: Zhang YJ
Year: 2016
Journal: Nat Neurosci
Title: C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins.
Volume: 19
Issue: 5
Pages: 668-77
Publication
First Author: Maor-Nof M
Year: 2021
Journal: Cell
Title: p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR).
Volume: 184
Issue: 3
Pages: 689-708.e20
Publication
First Author: Langseth AJ
Year: 2017
Journal: Sci Rep
Title: Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog.
Volume: 7
Issue: 1
Pages: 5685
Publication
First Author: Chitiprolu M
Year: 2018
Journal: Nat Commun
Title: A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy.
Volume: 9
Issue: 1
Pages: 2794
Publication
First Author: Bauer CS
Year: 2022
Journal: Acta Neuropathol
Title: An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD.
Volume: 144
Issue: 3
Pages: 437-464
Publication
First Author: Lagier-Tourenne C
Year: 2013
Journal: Proc Natl Acad Sci U S A
Title: Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.
Volume: 110
Issue: 47
Pages: E4530-9
Publication
First Author: Chew J
Year: 2015
Journal: Science
Title: Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits.
Volume: 348
Issue: 6239
Pages: 1151-4
Publication
First Author: Ho WY
Year: 2020
Journal: Acta Neuropathol Commun
Title: Deregulated expression of a longevity gene, Klotho, in the C9orf72 deletion mice with impaired synaptic plasticity and adult hippocampal neurogenesis.
Volume: 8
Issue: 1
Pages: 155
Publication
First Author: Zu T
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: Metformin inhibits RAN translation through PKR pathway and mitigates disease in C9orf72 ALS/FTD mice.
Volume: 117
Issue: 31
Pages: 18591-18599
Publication
First Author: Farg MA
Year: 2014
Journal: Hum Mol Genet
Title: C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.
Volume: 23
Issue: 13
Pages: 3579-95
Gene
Type: gene
Organism: frog, western clawed
Publication
First Author: Liu Y
Year: 2018
Journal: Genes Dev
Title: A C9orf72-CARM1 axis regulates lipid metabolism under glucose starvation-induced nutrient stress.
Volume: 32
Issue: 21-22
Pages: 1380-1397
Publication
First Author: Shao Q
Year: 2020
Journal: Autophagy
Title: C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis.
Volume: 16
Issue: 9
Pages: 1635-1650
Publication
First Author: Yang M
Year: 2016
Journal: Sci Adv
Title: A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy.
Volume: 2
Issue: 9
Pages: e1601167
Publication
First Author: Nguyen L
Year: 2020
Journal: Neuron
Title: Survival and Motor Phenotypes in FVB C9-500 ALS/FTD BAC Transgenic Mice Reproduced by Multiple Labs.
Volume: 108
Issue: 4
Pages: 784-796.e3
Publication
First Author: Liang C
Year: 2019
Journal: Hum Mol Genet
Title: Smcr8 deficiency disrupts axonal transport-dependent lysosomal function and promotes axonal swellings and gain of toxicity in C9ALS/FTD mouse models.
Volume: 28
Issue: 23
Pages: 3940-3953
Publication    
First Author: Laflamme C
Year: 2019
Journal: Elife
Title: Implementation of an antibody characterization procedure and application to the major ALS/FTD disease gene C9ORF72.
Volume: 8
Publication
First Author: Suzuki H
Year: 2019
Journal: Cell Death Dis
Title: C9-ALS/FTD-linked proline-arginine dipeptide repeat protein associates with paraspeckle components and increases paraspeckle formation.
Volume: 10
Issue: 10
Pages: 746
Publication
First Author: Ho WY
Year: 2019
Journal: Autophagy
Title: The ALS-FTD-linked gene product, C9orf72, regulates neuronal morphogenesis via autophagy.
Volume: 15
Issue: 5
Pages: 827-842
Publication
First Author: Choi SY
Year: 2019
Journal: Nat Neurosci
Title: C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo.
Volume: 22
Issue: 6
Pages: 851-862
Publication
First Author: Panda SK
Year: 2013
Journal: Genetics
Title: Highly efficient targeted mutagenesis in mice using TALENs.
Volume: 195
Issue: 3
Pages: 703-13
Publication
First Author: Lan Y
Year: 2019
Journal: Autophagy
Title: SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis.
Volume: 15
Issue: 5
Pages: 871-885
Publication
First Author: Zhang Y
Year: 2018
Journal: Genes Dev
Title: The C9orf72-interacting protein Smcr8 is a negative regulator of autoimmunity and lysosomal exocytosis.
Volume: 32
Issue: 13-14
Pages: 929-943
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_09
Specimen Label: euxassay_010754_09
Detected: true
Specimen Num: 7
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_10
Specimen Label: euxassay_010754_10
Detected: true
Specimen Num: 8
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_11
Specimen Label: euxassay_010754_11
Detected: true
Specimen Num: 9
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_12
Specimen Label: euxassay_010754_12
Detected: true
Specimen Num: 10
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_13
Specimen Label: euxassay_010754_13
Detected: true
Specimen Num: 11
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_15
Specimen Label: euxassay_010754_15
Detected: true
Specimen Num: 13
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_16
Specimen Label: euxassay_010754_16
Detected: true
Specimen Num: 14
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_17
Specimen Label: euxassay_010754_17
Detected: true
Specimen Num: 15
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_18
Specimen Label: euxassay_010754_18
Detected: true
Specimen Num: 16
GXD Expression  
Probe: MGI:4416736
Assay Type: RNA in situ
Annotation Date: 2010-09-14
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1760623
Pattern: Regionally restricted
Stage: TS23
Assay Id: MGI:4822699
Age: embryonic day 14.5
Image: euxassay_010754_19
Specimen Label: euxassay_010754_19
Detected: true
Specimen Num: 17
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1876728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692047
Age: postnatal adult
Image: UC Davis_1861947
Specimen Label: UC Davis_1861947
Detected: true
Specimen Num: 32
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1876728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692047
Age: postnatal adult
Image: UC Davis_1861948
Specimen Label: UC Davis_1861948
Detected: true
Specimen Num: 33
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1876728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692047
Age: postnatal adult
Image: UC Davis_1861949
Specimen Label: UC Davis_1861949
Detected: true
Specimen Num: 34
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1876728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692047
Age: postnatal adult
Image: UC Davis_1862034
Specimen Label: UC Davis_1862034
Detected: true
Specimen Num: 111
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1876728
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692047
Age: postnatal adult
Image: UC Davis_1862035
Specimen Label: UC Davis_1862035
Detected: true
Specimen Num: 112
GXD Expression      
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Absent
Sex: Male
Emaps: EMAPS:1777828
Stage: TS28
Assay Id: MGI:6692047
Age: postnatal adult
Image: UC Davis_1862074
Specimen Label: UC Davis_1862074
Detected: false
Specimen Num: 146
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Female
Emaps: EMAPS:1777828
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692047
Age: postnatal adult
Image: UC Davis_1861984
Specimen Label: UC Davis_1861984
Detected: true
Specimen Num: 69
GXD Expression    
Assay Type: In situ reporter (knock in)
Annotation Date: 2021-04-16
Strength: Present
Sex: Male
Emaps: EMAPS:1777828
Pattern: Not Specified
Stage: TS28
Assay Id: MGI:6692047
Age: postnatal adult
Image: UC Davis_1862051
Specimen Label: UC Davis_1862051
Detected: true
Specimen Num: 128