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Search results 601 to 695 out of 695 for Gaa

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0.037s
Type Details Score
Genotype
Symbol: Tg(FXN)YG22Pook/?
Background: B6J.Cg-Tg(FXN)YG22Pook
Zygosity: ot
Has Mutant Allele: true
Genotype
Symbol: Camk2a/Camk2a
Background: involves: C57BL/6J * DBA/2J
Zygosity: hm
Has Mutant Allele: true
Genotype
Symbol: Camk2a/Camk2a<+>
Background: involves: C57BL/6J * DBA/2J
Zygosity: ht
Has Mutant Allele: true
Protein Domain
Type: Family
Description: Frataxin is a mitochondrial protein, mutation of which leads to the disease Friedreich's ataxia []. Its orthologs are widely distributed in the bacteria, associated with the ISC system for iron-sulphur cluster assembly, and designated CyaY. Friedreich's ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the gene encoding frataxin (FRDA). Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate (including liver, kidney, brown fat and heart). Mouse and yeast frataxin homologues contain a potential N-terminal mitochondrial targeting sequence, and human frataxin has been observed to co-localise with a mitochondrial protein. Furthermore, disruption of the yeast gene has been shown to result in mitochondrial dysfunction. Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, expansion of an intronic GAA triplet repeat) [, , ].
Publication
First Author: Miranda CJ
Year: 2002
Journal: FEBS Lett
Title: Frataxin knockin mouse.
Volume: 512
Issue: 1-3
Pages: 291-7
Publication
First Author: Pauls E
Year: 2013
Journal: J Immunol
Title: Two phases of inflammatory mediator production defined by the study of IRAK2 and IRAK1 knock-in mice.
Volume: 191
Issue: 5
Pages: 2717-30
Publication
First Author: Zhang L
Year: 2015
Journal: PLoS One
Title: Dopamine receptor and Gα(olf) expression in DYT1 dystonia mouse models during postnatal development.
Volume: 10
Issue: 4
Pages: e0123104
Publication
First Author: Charton K
Year: 2010
Journal: Hum Mol Genet
Title: Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies.
Volume: 19
Issue: 23
Pages: 4608-24
Publication
First Author: Charton K
Year: 2015
Journal: Hum Mol Genet
Title: CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.
Volume: 24
Issue: 13
Pages: 3718-31
Strain
Attribute String: endonuclease-mediated mutation, mutant stock, transgenic
Strain
Attribute String: transgenic, mutant stock, endonuclease-mediated mutation
Strain
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
Genotype
Symbol: Capn3/Capn3<+> Ttn/Ttn<+>
Background: involves: 129/Sv * 129S2/SvPas * C57BL/6
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Capn3/Capn3<+> Ttn/Ttn
Background: involves: 129/Sv * 129S2/SvPas * C57BL/6
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Irak1/? Irak2/?
Background: involves: 129P2/OlaHsd * C57BL/6
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Bag3/Bag3 Tg(Myhca-cre)1Abel/?
Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * C57BL/6N * FVB/N
Zygosity: cn
Has Mutant Allele: true
Publication
First Author: Layer G
Year: 2006
Journal: J Biol Chem
Title: Iron-sulfur cluster biosynthesis: characterization of Escherichia coli CYaY as an iron donor for the assembly of [2Fe-2S] clusters in the scaffold IscU.
Volume: 281
Issue: 24
Pages: 16256-63
Publication
First Author: Vivas E
Year: 2006
Journal: J Bacteriol
Title: Salmonella enterica strains lacking the frataxin homolog CyaY show defects in Fe-S cluster metabolism in vivo.
Volume: 188
Issue: 3
Pages: 1175-9
Protein
Organism: Mus musculus/domesticus
Length: 145  
Fragment?: false
Publication
First Author: Koutnikova H
Year: 1997
Journal: Nat Genet
Title: Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.
Volume: 16
Issue: 4
Pages: 345-51
Protein
Organism: Mus musculus/domesticus
Length: 207  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 207  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 207  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 101  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 84  
Fragment?: true
Publication
First Author: Dürr A
Year: 1996
Journal: N Engl J Med
Title: Clinical and genetic abnormalities in patients with Friedreich's ataxia.
Volume: 335
Issue: 16
Pages: 1169-75
Publication
First Author: Gibson TJ
Year: 1996
Journal: Trends Neurosci
Title: Friedreich's ataxia protein: phylogenetic evidence for mitochondrial dysfunction.
Volume: 19
Issue: 11
Pages: 465-8
Protein Domain
Type: Family
Description: The eukaryotic proteins in this entry include frataxin, the protein that is mutated in Friedreich's ataxia [], and related sequences. Friedreich's ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the gene encoding frataxin (FRDA). Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate (including liver, kidney, brown fat and heart). Mouse and yeast frataxin homologues contain a potential N-terminal mitochondrial targeting sequence, and human frataxin has been observed to co-localise with a mitochondrial protein. Furthermore, disruption of the yeast gene has been shown to result in mitochondrial dysfunction. Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, expansion of an intronic GAA triplet repeat) [, , ].The bacterial proteins in this entry are iron-sulphur cluster (FeS) metabolism CyaY proteins homologous to eukaryotic frataxin. Partial Phylogenetic Profiling []suggests that CyaY most likely functions as part of the ISC system for FeS cluster biosynthesis, and is supported by expermimental data in some species [, ].
Protein Domain
Type: Homologous_superfamily
Description: The eukaryotic proteins in this entry include frataxin, the protein that is mutated in Friedreich's ataxia [], and related sequences. Friedreich's ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the gene encoding frataxin (FRDA). Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate (including liver, kidney, brown fat and heart). Mouse and yeast frataxin homologues contain a potential N-terminal mitochondrial targeting sequence, and human frataxin has been observed to co-localise with a mitochondrial protein. Furthermore, disruption of the yeast gene has been shown to result in mitochondrial dysfunction. Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, expansion of an intronic GAA triplet repeat) [, , ].The bacterial proteins in this entry are iron-sulphur cluster (FeS) metabolism CyaY proteins homologous to eukaryotic frataxin. Partial Phylogenetic Profiling []suggests that CyaY most likely functions as part of the ISC system for FeS cluster biosynthesis, and is supported by expermimental data in some species [, ]. The structure of Frataxin/CyaY has an α-β(5)-alpha fold arranged in two layers (alpha/beta) with meander antiparallel sheet.
Protein Domain
Type: Conserved_site
Description: The eukaryotic proteins in this entry include frataxin, the protein that is mutated in Friedreich's ataxia [], and related sequences. Friedreich's ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the gene encoding frataxin (FRDA). Frataxin mRNA is predominantly expressed in tissues with a high metabolic rate (including liver, kidney, brown fat and heart). Mouse and yeast frataxin homologues contain a potential N-terminal mitochondrial targeting sequence, and human frataxin has been observed to co-localise with a mitochondrial protein. Furthermore, disruption of the yeast gene has been shown to result in mitochondrial dysfunction. Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, expansion of an intronic GAA triplet repeat) [, , ].The bacterial proteins in this entry are iron-sulphur cluster (FeS) metabolism CyaY proteins homologous to eukaryotic frataxin. Partial Phylogenetic Profiling []suggests that CyaY most likely functions as part of the ISC system for FeS cluster biosynthesis, and is supported by expermimental data in some species [, ]. This conserved site covers a conserved region in the central section of these proteins.
Publication
First Author: Knebelmann B
Year: 1991
Journal: Proc Natl Acad Sci U S A
Title: Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome.
Volume: 88
Issue: 9
Pages: 3767-71
Publication
First Author: Yokoi F
Year: 2011
Journal: PLoS One
Title: Motor deficits and decreased striatal dopamine receptor 2 binding activity in the striatum-specific Dyt1 conditional knockout mice.
Volume: 6
Issue: 9
Pages: e24539
Publication
First Author: Yokoi F
Year: 2010
Journal: J Biochem
Title: Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.
Volume: 148
Issue: 4
Pages: 459-66
Strain
Attribute String: coisogenic, mutant strain, targeted mutation, transgenic
Publication
First Author: Bourn RL
Year: 2012
Journal: PLoS One
Title: Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.
Volume: 7
Issue: 10
Pages: e47085
Publication
First Author: Wang H
Year: 2010
Journal: Proc Natl Acad Sci U S A
Title: Allele-specific tumor spectrum in pten knockin mice.
Volume: 107
Issue: 11
Pages: 5142-7
Strain
Attribute String: mutant stock, targeted mutation, transgenic
Strain
Attribute String: congenic, mutant strain, targeted mutation, transgenic
Strain
Attribute String: mutant stock, targeted mutation, transgenic
Strain
Attribute String: congenic, mutant strain, targeted mutation
Strain
Attribute String: mutant stock, targeted mutation, transgenic
Strain
Attribute String: mutant stock, targeted mutation, transgenic
Strain
Attribute String: congenic, targeted mutation, transgenic
Strain
Attribute String: congenic, mutant strain, targeted mutation, transgenic
Publication
First Author: Pook MA
Year: 2001
Journal: Neurogenetics
Title: Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis.
Volume: 3
Issue: 4
Pages: 185-93
Publication
First Author: Shan Y
Year: 2013
Journal: Antioxid Redox Signal
Title: Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model.
Volume: 19
Issue: 13
Pages: 1481-93
Publication
First Author: Mollá B
Year: 2016
Journal: Dis Model Mech
Title: Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia.
Volume: 9
Issue: 6
Pages: 647-57
Publication  
First Author: Rodríguez-Pascau L
Year: 2021
Journal: Neurobiol Dis
Title: PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia.
Volume: 148
Pages: 105162
Publication
First Author: Santoro A
Year: 2018
Journal: Hum Mol Genet
Title: Effect of diazoxide on Friedreich ataxia models.
Volume: 27
Issue: 6
Pages: 992-1001
Publication
First Author: Jones J
Year: 2013
Journal: PLoS One
Title: Stem cells from wildtype and Friedreich's ataxia mice present similar neuroprotective properties in dorsal root ganglia cells.
Volume: 8
Issue: 5
Pages: e62807
Publication
First Author: Muñoz-Lasso DC
Year: 2020
Journal: Sci Rep
Title: Cofilin dysregulation alters actin turnover in frataxin-deficient neurons.
Volume: 10
Issue: 1
Pages: 5207
Allele
Name: tyrosinase; endonuclease-mediated mutation 19, Paul Overbeek
Allele Type: Endonuclease-mediated
Attribute String: Not Specified
Genotype
Symbol: Fxn/Fxn Tg(FXN)YG8Pook/?
Background: involves: 129/Sv * C57BL/6 * CBA
Zygosity: cx
Has Mutant Allele: true
Genotype
Symbol: Fxn/Fxn Tg(FXN)YG22Pook/?
Background: involves: 129/Sv * C57BL/6 * CBA
Zygosity: cx
Has Mutant Allele: true
Publication
First Author: Calmels N
Year: 2009
Journal: PLoS One
Title: The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
Volume: 4
Issue: 7
Pages: e6379
Publication
First Author: Torremans A
Year: 2005
Journal: J Neurol Sci
Title: Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency.
Volume: 231
Issue: 1-2
Pages: 49-55
Publication
First Author: Fujita M
Year: 2009
Journal: Cancer Res
Title: Effective immunotherapy against murine gliomas using type 1 polarizing dendritic cells--significant roles of CXCL10.
Volume: 69
Issue: 4
Pages: 1587-95
Publication
First Author: Poburski D
Year: 2016
Journal: Biol Open
Title: Time-resolved functional analysis of acute impairment of frataxin expression in an inducible cell model of Friedreich ataxia.
Volume: 5
Issue: 5
Pages: 654-61
Publication  
First Author: Igoillo-Esteve M
Year: 2020
Journal: JCI Insight
Title: Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia.
Volume: 5
Issue: 2
Publication
First Author: Sarsero JP
Year: 2014
Journal: PLoS One
Title: Rescue of the Friedreich ataxia knockout mutation in transgenic mice containing an FXN-EGFP genomic reporter.
Volume: 9
Issue: 3
Pages: e93307
Publication
First Author: Sarsero JP
Year: 2004
Journal: Mamm Genome
Title: Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice.
Volume: 15
Issue: 5
Pages: 370-82
Publication
First Author: Chang JC
Year: 2024
Journal: Mol Ther Methods Clin Dev
Title: AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia.
Volume: 32
Issue: 1
Pages: 101193
Publication
First Author: Medina-Carbonero M
Year: 2022
Journal: Cell Mol Life Sci
Title: Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations.
Volume: 79
Issue: 2
Pages: 74
Publication
First Author: Cotticelli MG
Year: 2019
Journal: J Pharmacol Exp Ther
Title: Ferroptosis as a Novel Therapeutic Target for Friedreich's Ataxia.
Volume: 369
Issue: 1
Pages: 47-54
Publication
First Author: Martiniuk F
Year: 1985
Journal: Hum Genet
Title: Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization.
Volume: 69
Issue: 2
Pages: 109-11
Publication
First Author: Jiralerspong S
Year: 1997
Journal: Neurobiol Dis
Title: Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo.
Volume: 4
Issue: 2
Pages: 103-13
Publication
First Author: Zheng R
Year: 2010
Journal: J Cell Sci
Title: Polypurine-repeat-containing RNAs: a novel class of long non-coding RNA in mammalian cells.
Volume: 123
Issue: Pt 21
Pages: 3734-44
Publication  
First Author: Fil D
Year: 2020
Journal: Dis Model Mech
Title: Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia.
Volume: 13
Issue: 7
Publication  
First Author: Wilkes BJ
Year: 2021
Journal: Exp Neurol
Title: Cell-specific effects of Dyt1 knock-out on sensory processing, network-level connectivity, and motor deficits.
Volume: 343
Pages: 113783
Publication
First Author: Dang MT
Year: 2005
Journal: Exp Neurol
Title: Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia.
Volume: 196
Issue: 2
Pages: 452-63
Publication
First Author: Yokoi F
Year: 2012
Journal: Behav Brain Res
Title: Improved motor performance in Dyt1 ΔGAG heterozygous knock-in mice by cerebellar Purkinje-cell specific Dyt1 conditional knocking-out.
Volume: 230
Issue: 2
Pages: 389-98
Publication
First Author: Dang MT
Year: 2006
Journal: Neurosci Res
Title: Motor deficits and hyperactivity in Dyt1 knockdown mice.
Volume: 56
Issue: 4
Pages: 470-4
Publication
First Author: Sahdeo S
Year: 2014
Journal: Hum Mol Genet
Title: Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
Volume: 23
Issue: 25
Pages: 6848-62
Publication
First Author: Hayashi G
Year: 2014
Journal: Hum Mol Genet
Title: Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia.
Volume: 23
Issue: 25
Pages: 6838-47
Publication  
First Author: Franco C
Year: 2012
Journal: Mol Neurodegener
Title: Frataxin deficiency unveils cell-context dependent actions of insulin-like growth factor I on neurons.
Volume: 7
Pages: 51
Publication  
First Author: Muñoz-Lasso DC
Year: 2022
Journal: Front Mol Neurosci
Title: Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich's Ataxia YG8sR Model: A Multilinear Algebra Approach.
Volume: 15
Pages: 912780
Publication  
First Author: Abeti R
Year: 2022
Journal: Front Mol Biosci
Title: A Drug Combination Rescues Frataxin-Dependent Neural and Cardiac Pathophysiology in FA Models.
Volume: 9
Pages: 830650
Publication
First Author: Wang W
Year: 2023
Journal: EMBO Mol Med
Title: Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility.
Volume: 15
Issue: 6
Pages: e17177
Strain
Attribute String: mutant stock, endonuclease-mediated mutation
Publication  
First Author: Fil D
Year: 2023
Journal: Neurobiol Dis
Title: Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin.
Volume: 177
Pages: 105996
Publication
First Author: Santos MM
Year: 2003
Journal: Cerebellum
Title: Iron metabolism in mice with partial frataxin deficiency.
Volume: 2
Issue: 2
Pages: 146-53
Publication
First Author: Yang HW
Year: 2001
Journal: Oncogene
Title: Genomic structure and mutational analysis of the human KIF1B gene which is homozygously deleted in neuroblastoma at chromosome 1p36.2.
Volume: 20
Issue: 36
Pages: 5075-83
Publication  
First Author: Yokoi F
Year: 2021
Journal: Behav Brain Res
Title: Characterization of the direct pathway in Dyt1 ΔGAG heterozygous knock-in mice and dopamine receptor 1-expressing-cell-specific Dyt1 conditional knockout mice.
Volume: 411
Pages: 113381
Publication
First Author: Hsu AH
Year: 2018
Journal: Cell Rep
Title: Crosstalk between PKCα and PI3K/AKT Signaling Is Tumor Suppressive in the Endometrium.
Volume: 24
Issue: 3
Pages: 655-669
Publication  
First Author: Rocca CJ
Year: 2017
Journal: Sci Transl Med
Title: Transplantation of wild-type mouse hematopoietic stem and progenitor cells ameliorates deficits in a mouse model of Friedreich's ataxia.
Volume: 9
Issue: 413
Publication
First Author: Zhang J
Year: 2017
Journal: Cell Rep
Title: A Role for Dystonia-Associated Genes in Spinal GABAergic Interneuron Circuitry.
Volume: 21
Issue: 3
Pages: 666-678
Publication
First Author: Schmidt JW
Year: 2014
Journal: Mol Cell Biol
Title: Stat5 regulates the phosphatidylinositol 3-kinase/Akt1 pathway during mammary gland development and tumorigenesis.
Volume: 34
Issue: 7
Pages: 1363-77
Publication  
First Author: Haft DH
Year: 2006
Journal: BMC Biol
Title: Exopolysaccharide-associated protein sorting in environmental organisms: the PEP-CTERM/EpsH system. Application of a novel phylogenetic profiling heuristic.
Volume: 4
Pages: 29
Publication
First Author: Fang X
Year: 2017
Journal: J Clin Invest
Title: Loss-of-function mutations in co-chaperone BAG3 destabilize small HSPs and cause cardiomyopathy.
Volume: 127
Issue: 8
Pages: 3189-3200
Publication
First Author: Irving NG
Year: 1991
Journal: Mouse Genome
Title: A mouse chromosome 16 inter-repeat PCR product from C57BL/10 and Mus spretus forms a heteroduplex in interspecific backcross progeny
Volume: 89
Issue: 4
Pages: 854-856
Publication
First Author: Bang ML
Year: 2017
Journal: J Cell Physiol
Title: Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.
Volume: 232
Issue: 1
Pages: 38-52
Publication
First Author: Goodwin LO
Year: 2019
Journal: Genome Res
Title: Large-scale discovery of mouse transgenic integration sites reveals frequent structural variation and insertional mutagenesis.
Volume: 29
Issue: 3
Pages: 494-505
Publication      
First Author: Mutant Mouse Regional Resource Centers
Year: 2004
Journal: Unpublished
Title: Information obtained from the Mutant Mouse Regional Resource Centers (MMRRC)
Publication      
First Author: The Jackson Laboratory
Year: 2005
Journal: Unpublished
Title: Information obtained from The Jackson Laboratory, Bar Harbor, ME
Publication      
First Author: The Gene Expression Nervous System Atlas (GENSAT) Project, The Rockefeller University (New York, NY)
Year: 2005
Journal: Database Download
Title: MGI download of GENSAT transgene data