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Search results 101 to 200 out of 200 for Uqcrfs1

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0.027s
Type Details Score
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1781522
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1759722
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1672722
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression  
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1750322
Pattern: Ubiquitous
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Image: EG455; Specimen G0245
Specimen Label: EG455; Specimen G0245
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1775122
Pattern: Ubiquitous
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Image: EG455; Specimen G0245
Specimen Label: EG455; Specimen G0245
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3274122
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3287422
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3266022
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1624622
Pattern: Regionally restricted
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Image: EG455; Specimen G0245
Note: Expression was detected in the digestive system.
Specimen Label: EG455; Specimen G0245
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1721422
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1646922
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1736222
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1683322
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1700022
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1832122
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:1876522
Pattern: Regionally restricted
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Image: EG455; Specimen G0245
Note: Expression was weak in the immune system.
Specimen Label: EG455; Specimen G0245
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1741222
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1754022
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3599822
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3280922
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1833322
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3287022
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1752522
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1821522
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:3557722
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression  
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Moderate
Sex: Not Specified
Emaps: EMAPS:1702122
Pattern: Regionally restricted
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Image: EG455; Specimen G0245
Specimen Label: EG455; Specimen G0245
Detected: true
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1756322
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1668822
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1757722
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1757522
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1738322
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression      
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1802422
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1768022
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Note: Expression was not detected in the skull (base and vault).
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
GXD Expression    
Probe: MGI:5309665
Assay Type: RNA in situ
Annotation Date: 2012-06-12
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:2672022
Stage: TS22
Assay Id: MGI:5423017
Age: embryonic day 14.5
Note: Expression was not detected in whisker follicle.
Specimen Label: EG455; Specimen G0245
Detected: false
Specimen Num: 1
Publication
First Author: Zhang S
Year: 2019
Journal: Cell Metab
Title: Efferocytosis Fuels Requirements of Fatty Acid Oxidation and the Electron Transport Chain to Polarize Macrophages for Tissue Repair.
Volume: 29
Issue: 2
Pages: 443-456.e5
Publication
First Author: Diaz F
Year: 2012
Journal: Hum Mol Genet
Title: A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions.
Volume: 21
Issue: 23
Pages: 5066-77
Publication
First Author: Ansó E
Year: 2017
Journal: Nat Cell Biol
Title: The mitochondrial respiratory chain is essential for haematopoietic stem cell function.
Volume: 19
Issue: 6
Pages: 614-625
Publication
First Author: Cabello-Rivera D
Year: 2022
Journal: Proc Natl Acad Sci U S A
Title: Oxygen regulation of breathing is abolished in mitochondrial complex III-deficient arterial chemoreceptors.
Volume: 119
Issue: 39
Pages: e2202178119
Publication  
First Author: Lapointe J
Year: 2014
Journal: Physiol Rep
Title: Compensatory elevation of voluntary activity in mouse mutants with impaired mitochondrial energy metabolism.
Volume: 2
Issue: 11
Publication
First Author: Weinberg SE
Year: 2019
Journal: Nature
Title: Mitochondrial complex III is essential for suppressive function of regulatory T cells.
Volume: 565
Issue: 7740
Pages: 495-499
Publication
First Author: Hilander T
Year: 2018
Journal: Nucleic Acids Res
Title: Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria.
Volume: 46
Issue: 2
Pages: 849-860
Publication
First Author: Guo R
Year: 2017
Journal: Cell
Title: Architecture of Human Mitochondrial Respiratory Megacomplex I2III2IV2.
Volume: 170
Issue: 6
Pages: 1247-1257.e12
Publication
First Author: Wiley SE
Year: 2007
Journal: Proc Natl Acad Sci U S A
Title: MitoNEET is an iron-containing outer mitochondrial membrane protein that regulates oxidative capacity.
Volume: 104
Issue: 13
Pages: 5318-23
Publication
First Author: Schilling B
Year: 2006
Journal: Biochim Biophys Acta
Title: Proteomic analysis of succinate dehydrogenase and ubiquinol-cytochrome c reductase (Complex II and III) isolated by immunoprecipitation from bovine and mouse heart mitochondria.
Volume: 1762
Issue: 2
Pages: 213-22
Publication
First Author: Vercellino I
Year: 2021
Journal: Nature
Title: Structure and assembly of the mammalian mitochondrial supercomplex CIII2CIV.
Volume: 598
Issue: 7880
Pages: 364-367
Publication
First Author: Yao Y
Year: 2020
Journal: Nat Commun
Title: Histone deacetylase 3 controls lung alveolar macrophage development and homeostasis.
Volume: 11
Issue: 1
Pages: 3822
Publication
First Author: Vercellino I
Year: 2024
Journal: Nat Struct Mol Biol
Title: SCAF1 drives the compositional diversity of mammalian respirasomes.
Volume: 31
Issue: 7
Pages: 1061-1071
Publication
First Author: Da Cruz S
Year: 2003
Journal: J Biol Chem
Title: Proteomic analysis of the mouse liver mitochondrial inner membrane.
Volume: 278
Issue: 42
Pages: 41566-71
Publication
First Author: Werner HB
Year: 2007
Journal: J Neurosci
Title: Proteolipid protein is required for transport of sirtuin 2 into CNS myelin.
Volume: 27
Issue: 29
Pages: 7717-30
Publication
First Author: Mootha VK
Year: 2003
Journal: Cell
Title: Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria.
Volume: 115
Issue: 5
Pages: 629-40
Publication
First Author: Hoffman BG
Year: 2008
Journal: Genome Biol
Title: Identification of transcripts with enriched expression in the developing and adult pancreas.
Volume: 9
Issue: 6
Pages: R99
Publication
First Author: Pagliarini DJ
Year: 2008
Journal: Cell
Title: A mitochondrial protein compendium elucidates complex I disease biology.
Volume: 134
Issue: 1
Pages: 112-23
Publication      
First Author: NIH Mouse Knockout Inventory
Year: 2004
Journal: MGI Direct Data Submission
Title: Information obtained from the NIH Mouse Knockout Inventory
Publication        
First Author: GO Central curators, GOA curators, Rhea curators
Year: 2020
Title: Automatic Gene Ontology annotation based on Rhea mapping
Publication        
First Author: GOA curators, MGI curators
Year: 2001
Title: Gene Ontology annotation based on Enzyme Commission mapping
Publication        
First Author: The Gene Ontology Consortium
Year: 2016
Title: Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data
Publication
First Author: Visel A
Year: 2004
Journal: Nucleic Acids Res
Title: GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
Volume: 32
Issue: Database issue
Pages: D552-6
Publication
First Author: Stryke D
Year: 2003
Journal: Nucleic Acids Res
Title: BayGenomics: a resource of insertional mutations in mouse embryonic stem cells.
Volume: 31
Issue: 1
Pages: 278-81
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Publication        
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2003
Title: MGI Sequence Curation Reference
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Chromosome assignment of mouse genes using the Mouse Genome Sequencing Consortium (MGSC) assembly and the ENSEMBL Database
Publication
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
Publication
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
Publication
First Author: Zambrowicz BP
Year: 2003
Journal: Proc Natl Acad Sci U S A
Title: Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Volume: 100
Issue: 24
Pages: 14109-14
Publication        
First Author: GemPharmatech
Year: 2020
Title: GemPharmatech Website.
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication        
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
Publication        
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping
Publication        
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Publication      
First Author: The Jackson Laboratory Mouse Radiation Hybrid Database
Year: 2004
Journal: Database Release
Title: Mouse T31 Radiation Hybrid Data Load
Publication
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
Publication        
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
Publication      
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
Publication        
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
Publication      
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
Publication      
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
Publication
First Author: Sánchez E
Year: 2013
Journal: Biochim Biophys Acta
Title: LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells.
Volume: 1827
Issue: 3
Pages: 285-93
Protein
Organism: Mus musculus/domesticus
Length: 274  
Fragment?: false
Protein Domain
Type: Family
Description: TTC19 is involved in complex III biogenesis and the clearance of UQCRFS1 N-terminal fragments []. Mutations in the TTC19 gene cause mitochondrial complex III deficiency and neurological impairment in humans and flies [].
Publication
First Author: Invernizzi F
Year: 2013
Journal: Hum Mutat
Title: A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.
Volume: 34
Issue: 12
Pages: 1619-22
Publication  
First Author: Hempel M
Year: 2017
Journal: Mitochondrion
Title: LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.
Volume: 37
Pages: 55-61
Publication
First Author: Dallabona C
Year: 2016
Journal: Brain
Title: LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Volume: 139
Issue: Pt 3
Pages: 782-94
Protein Domain
Type: Domain
Description: LYRM7 is an assembly factor required for Rieske iron sulfur (Fe-S) protein UQCRFS1 incorporation into the cytochrome b-c1 (CIII) complex. It functions as a chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII dimeric intermediate within the mitochondrial inner membrane []. LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with a distinct and recognizable magnetic resonance imaging (MRI) pattern [, , ]. LYRM7 belongsto the Complex1_LYR-like superfamily that consists of proteins of diverse functions that are exclusively found in eukaryotes and contain the conserved tripeptide 'LYR' close to the N terminus.
Publication
First Author: Sato T
Year: 2018
Journal: Proc Natl Acad Sci U S A
Title: mRNA-binding protein tristetraprolin is essential for cardiac response to iron deficiency by regulating mitochondrial function.
Volume: 115
Issue: 27
Pages: E6291-E6300
Protein
Organism: Mus musculus/domesticus
Length: 104  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 133  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 59  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 202  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 365  
Fragment?: false