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Search results 601 to 700 out of 709 for Gaa

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Categories

Hits by Pathway

Hits by Category

Hits by Strain

Type Details Score
Strain
MGI:5700051 | B6J.Cg-Tg(FXN)YG22Pook
Attribute String: congenic, mutant strain, transgenic
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Strain
MGI:5911832 | STOCK Fxn<em2.1Lutzy> Tg(FXN)Y47Pook/J
Attribute String: mutant stock, transgenic, endonuclease-mediated mutation
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Allele
Tor1a<tm5Yql> | MGI:6763162
Name: torsin family 1, member A (torsin A); targeted mutation 1, Yuqing Li
Allele Type: Targeted
Attribute String: Hypomorph, Knockdown
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Allele
Gaa<em2Jhng> | MGI:7327566
Name: glucosidase, alpha, acid; endonuclease-mediated mutation 2, Jeffrey Huang
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
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Genotype
Genotype
Symbol: Tor1a/Tor1a
Background: involves: 129S2/SvPas * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tor1a/Tor1a<+>
Background: involves: 129S2/SvPas * C57BL/6
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tg(FXN)YG8Pook/?
Background: B6.Cg-Tg(FXN)YG8Pook
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Gaa/Gaa Tg(CMV-GAA*P545L)#Kjv/?
Background: involves: 129X1/SvJ * C57BL/6
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tg(FXN)YG22Pook/?
Background: B6J.Cg-Tg(FXN)YG22Pook
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Camk2a/Camk2a
Background: involves: C57BL/6J * DBA/2J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Camk2a/Camk2a<+>
Background: involves: C57BL/6J * DBA/2J
Zygosity: ht
Has Mutant Allele: true
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Protein Domain
IPR017789 | Frataxin
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) [, , ].
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Publication
11852098 | J:109164
First Author: Miranda CJ
Year: 2002
Journal: FEBS Lett
Title: Frataxin knockin mouse.
Volume: 512
Issue: 1-3
Pages: 291-7
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Publication
23918981 | J:205798
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
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Publication
20855473 | J:165576
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
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Publication
25877298 | J:223343
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
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Publication
25860259 | J:233515
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
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Strain
MGI:5909980 | STOCK Fxn<em2.1Lutzy> Tg(FXN)YG8Pook/J
Attribute String: transgenic, mutant stock, endonuclease-mediated mutation
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Strain
MGI:6111731 | STOCK Fxn<em2.1Lutzy> Tg(FXN)YG8Pook/800J
Attribute String: endonuclease-mediated mutation, mutant stock, transgenic
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Publication
35289725 | J:359509
First Author: Kilikevicius A
Year: 2022
Journal: RNA Biol
Title: Difficulties translating antisense-mediated activation of Frataxin expression from cell culture to mice.
Volume: 19
Issue: 1
Pages: 364-372
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Strain
MGI:7327567 | C57BL/6NJ-Gaa<em2Jhng>/J
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Genotype
Genotype
Symbol: Capn3/Capn3<+> Ttn/Ttn<+>
Background: involves: 129/Sv * 129S2/SvPas * C57BL/6
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Capn3/Capn3<+> Ttn/Ttn
Background: involves: 129/Sv * 129S2/SvPas * C57BL/6
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Irak1/? Irak2/?
Background: involves: 129P2/OlaHsd * C57BL/6
Zygosity: cx
Has Mutant Allele: true
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Genotype
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
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Genotype
Genotype
Symbol: Fxn/Fxn
Background: involves: 129 * C57BL/6J * C57BL/6NTac
Zygosity: ht
Has Mutant Allele: true
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Publication
16603772 | -
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
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Publication
16428423 | -
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
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Protein
E9Q2P9
Organism: Mus musculus/domesticus
Length: 145  
Fragment?: false
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Publication
9241270 | J:42050
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
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Protein
O35943
Organism: Mus musculus/domesticus
Length: 207  
Fragment?: false
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Protein
Q3UG34
Organism: Mus musculus/domesticus
Length: 207  
Fragment?: false
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Protein
Q3TV21
Organism: Mus musculus/domesticus
Length: 207  
Fragment?: false
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Protein
Q6PDS4
Organism: Mus musculus/domesticus
Length: 101  
Fragment?: false
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Protein
Q9R295
Organism: Mus musculus/domesticus
Length: 84  
Fragment?: true
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Publication
8815938 | -
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
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Publication
8931268 | -
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
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Protein Domain
IPR002908 | Frataxin/CyaY
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 [, ].
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Protein Domain
IPR036524 | Frataxin/CyaY_sf
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.
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Protein Domain
IPR020895 | Frataxin_CS
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.
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Publication
2023927 | J:48913
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
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Publication
22123740 | J:356918
First Author: Gellert P
Year: 2012
Journal: Nucleic Acids Res
Title: Gene Array Analyzer: alternative usage of gene arrays to study alternative splicing events.
Volume: 40
Issue: 6
Pages: 2414-25
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Publication
23071719 | J:192085
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
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Publication
20194734 | J:158751
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
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Strain
MGI:5140697 | B6.Cg-Fxn<tm1Mkn> Tg(FXN)YG22Pook/J
Attribute String: congenic, mutant strain, targeted mutation, transgenic
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Strain
MGI:4437675 | B6.Cg-Fxn<tm1Mkn> Tg(FXN)YG8Pook/J
Attribute String: congenic, mutant strain, targeted mutation, transgenic
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Strain
MGI:5752567 | STOCK Tg(FXN*)1Sars Fxn<tm1Mkn>/J
Attribute String: mutant stock, targeted mutation, transgenic
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Strain
MGI:5616090 | STOCK Fxn<tm1Mkn> Tg(FXN)YG8Pook/2J
Attribute String: mutant stock, targeted mutation, transgenic
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Strain
MGI:7624524 | B6.Cg-Tg(FXN*)1Sars Fxn<tm1Mkn> rd21/BocJ
Attribute String: mutant strain, spontaneous mutation, congenic
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Strain
MGI:4412278 | STOCK Fxn<tm1Mkn> Tg(FXN)YG22Pook/J
Attribute String: mutant stock, targeted mutation, transgenic
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Strain
MGI:3797885 | STOCK Fxn<tm1Mkn> Tg(FXN)YG8Pook/J
Attribute String: congenic, targeted mutation, transgenic
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Strain
MGI:5585458 | STOCK Fxn<tm1Mkn> Tg(FXN)Y47Pook/J
Attribute String: mutant stock, targeted mutation, transgenic
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Strain
MGI:5432796 | B6.Cg-Tg(FXN*)1Sars Fxn<tm1Mkn>/J
Attribute String: congenic, mutant strain, targeted mutation
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Publication
29325032 | J:329142
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
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Publication
11714098 | J:213628
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
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Publication
23350650 | J:329069
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
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Publication
27079523 | J:232478
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
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Publication
32251310 | J:286974
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
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Publication
23671637 | J:202178
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
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Publication
33171227 | J:305156
 
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
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Publication
20627944 | J:178131
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
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Strain
MGI:6353670 | C57BL/6-Polk<tm1.1Csk> Tg(gptdelta)1Nmi/NmiRbrc
Attribute String: coisogenic, mutant strain, targeted mutation, transgenic
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Publication
21931745 | J:177692
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
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Allele
Tyr<em19Ove> | MGI:6416505
Name: tyrosinase; endonuclease-mediated mutation 19, Paul Overbeek
Allele Type: Endonuclease-mediated
Attribute String: Not Specified
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Genotype
Genotype
Symbol: Fxn/Fxn Tg(FXN)YG8Pook/?
Background: involves: 129/Sv * C57BL/6 * CBA
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Fxn/Fxn Tg(FXN)YG22Pook/?
Background: involves: 129/Sv * C57BL/6 * CBA
Zygosity: cx
Has Mutant Allele: true
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Publication
19629184 | J:151779
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
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Publication
19190335 | J:146507
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
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Publication
24667739 | J:214147
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
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Publication
15170226 | J:90098
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
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Publication
31877117 | J:297727
 
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
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Publication
27106929 | J:232570
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
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Publication
38352270 | J:345352
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
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Publication
15792821 | J:101838
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
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Publication
30635474 | J:307855
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
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Publication
35038030 | J:326677
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
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Publication
32586831 | J:299300
 
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
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Publication
3882552 | J:7737
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
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Publication
9331900 | J:43296
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
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Publication
20940252 | J:182926
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
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Publication
22391119 | J:185060
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
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Publication
34119482 | J:311120
 
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
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Publication
16242683 | J:104513
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
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Publication
35769335 | J:329147
 
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
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Publication
35664670 | J:329180
 
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
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Publication
25113747 | J:216419
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
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Strain
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Attribute String: mutant stock, endonuclease-mediated mutation
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