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Search results 1 to 100 out of 662 for Pah

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Type Details Score
Gene
5053 | PAH
Type: gene
Organism: human
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Gene
378962 | pah
Type: gene
Organism: zebrafish
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Gene
698696 | PAH
Type: gene
Organism: macaque, rhesus
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Gene
613076 | pah
Type: gene
Organism: frog, western clawed
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Gene
510583 | PAH
Type: gene
Organism: cattle
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Gene
key_18946 | PAH
Type: gene
Organism: sheep
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Gene
24616 | Pah
Type: gene
Organism: rat
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Gene
475446 | PAH
Type: gene
Organism: dog, domestic
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Gene
741097 | PAH
Type: gene
Organism: chimpanzee
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Gene
408024 | PAH
Type: gene
Organism: chicken
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Protein Domain
IPR003822 | PAH
Type: Repeat
Description: This entry represents the paired amphipathic helix (PAH) repeat. Sin3 proteins have at least three PAH domains (PAH1, PAH2, and PAH3) [, ]. They are components of a co-repressor complex that silences transcription, playing important roles in the transition between proliferation and differentiation. Sin3 proteins are recruited to the DNA by various DNA-binding transcription factors such as the Mad family of repressors, Mnt/Rox, PLZF, MeCP2, p53, REST/NRSF, MNFbeta, Sp1, TGIF and Ume6 []. Sin3 acts as a scaffold protein that in turn recruits histone-binding proteins RbAp46/RbAp48 and histone deacetylases HDAC1/HDAC2, which deacetylate the core histones resulting in a repressed state of the chromatin []. The PAH domains are protein-protein interaction domains through which Sin3 fulfils its role as a scaffold. The PAH2 domain of Sin3 can interact with a wide range of unrelated and structurally diverse transcription factors that bind using different interaction motifs. For example, the Sin3 PAH2 domain can interact with the unrelated Mad and HBP1 factors using alternative interaction motifs that involve binding in opposite helical orientations [].
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Protein Coding Gene
MGI:97473 | Pah
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
38520741 | J:350423
First Author: Martínez-Pizarro A
Year: 2024
Journal: Hum Mol Genet
Title: PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
Volume: 33
Issue: 12
Pages: 1074-1089
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Publication
20705059 | J:166375
First Author: Lagler FB
Year: 2010
Journal: Biochem Pharmacol
Title: New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Volume: 80
Issue: 10
Pages: 1563-71
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GXD Expression
GXD Expression
     
Probe: MGI:6180008
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1689421
Stage: TS21
Assay Id: MGI:6191012
Age: embryonic day 13.5
Specimen Label: Table S2 - E13.5 - Pah
Detected: false
Specimen Num: 2
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GXD Expression
GXD Expression
     
Probe: MGI:6180008
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Absent
Sex: Male
Emaps: EMAPS:1689424
Stage: TS24
Assay Id: MGI:6191012
Age: embryonic day 15.5
Specimen Label: Table S2 - E15.5 - Pah
Detected: false
Specimen Num: 3
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GXD Expression
GXD Expression
     
Probe: MGI:6180008
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Absent
Sex: Male
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:6191012
Age: postnatal day 4
Specimen Label: Table S2 - P4 - Pah
Detected: false
Specimen Num: 5
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GXD Expression
GXD Expression
     
Probe: MGI:6180008
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Absent
Sex: Male
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:6191012
Age: postnatal day 14
Specimen Label: Table S2 - P14 - Pah
Detected: false
Specimen Num: 6
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GXD Expression
GXD Expression
     
Probe: MGI:6180008
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1689419
Stage: TS19
Assay Id: MGI:6191012
Age: embryonic day 11.5
Specimen Label: Table S2 - E11.5 - Pah
Detected: false
Specimen Num: 1
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GXD Expression
GXD Expression
     
Probe: MGI:6180008
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Absent
Sex: Male
Emaps: EMAPS:1689426
Stage: TS26
Assay Id: MGI:6191012
Age: embryonic day 18.5
Specimen Label: Table S2 - E18.5 - Pah
Detected: false
Specimen Num: 4
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GXD Expression
GXD Expression
     
Probe: MGI:6180008
Assay Type: RNA in situ
Annotation Date: 2018-07-25
Strength: Absent
Sex: Male
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:6191012
Age: postnatal day 28
Specimen Label: Table S2 - P28 - Pah
Detected: false
Specimen Num: 7
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Publication
11101889 | J:66140
First Author: Spronk CA
Year: 2000
Journal: Nat Struct Biol
Title: The Mad1-Sin3B interaction involves a novel helical fold.
Volume: 7
Issue: 12
Pages: 1100-4
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Protein
E9PXF9
Organism: Mus musculus/domesticus
Length: 133  
Fragment?: true
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Publication
15235594 | J:345035
First Author: Swanson KA
Year: 2004
Journal: Nat Struct Mol Biol
Title: HBP1 and Mad1 repressors bind the Sin3 corepressor PAH2 domain with opposite helical orientations.
Volume: 11
Issue: 8
Pages: 738-46
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Protein
A0A1D5RM25
Organism: Mus musculus/domesticus
Length: 207  
Fragment?: true
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Protein
Q80WX0
Organism: Mus musculus/domesticus
Length: 190  
Fragment?: true
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Protein
Q3TN09
Organism: Mus musculus/domesticus
Length: 293  
Fragment?: false
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Publication
14705930 | -
First Author: van Ingen H
Year: 2004
Journal: Biochemistry
Title: Extension of the binding motif of the Sin3 interacting domain of the Mad family proteins.
Volume: 43
Issue: 1
Pages: 46-54
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Publication
18089292 | -
First Author: Sahu SC
Year: 2008
Journal: J Mol Biol
Title: Conserved themes in target recognition by the PAH1 and PAH2 domains of the Sin3 transcriptional corepressor.
Volume: 375
Issue: 5
Pages: 1444-56
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Protein
Q9D3F4
Organism: Mus musculus/domesticus
Length: 174  
Fragment?: false
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Protein
Q8C7X3
Organism: Mus musculus/domesticus
Length: 167  
Fragment?: true
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Publication
21440557 | -
First Author: Kumar GS
Year: 2011
Journal: J Mol Biol
Title: Solution structure of the mSin3A PAH2-Pf1 SID1 complex: a Mad1/Mxd1-like interaction disrupted by MRG15 in the Rpd3S/Sin3S complex.
Volume: 408
Issue: 5
Pages: 987-1000
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Protein
Q60520
Organism: Mus musculus/domesticus
Length: 1274  
Fragment?: false
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Protein
Q62141
Organism: Mus musculus/domesticus
Length: 1098  
Fragment?: false
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Protein
Q3TXW9
Organism: Mus musculus/domesticus
Length: 1098  
Fragment?: false
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Protein
Q9DB00
Organism: Mus musculus/domesticus
Length: 2260  
Fragment?: false
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Protein
E9Q507
Organism: Mus musculus/domesticus
Length: 2242  
Fragment?: false
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Protein
Q32NZ8
Organism: Mus musculus/domesticus
Length: 2036  
Fragment?: true
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Publication
9797873 | J:47853
First Author: Harding CO
Year: 1998
Journal: Gene Ther
Title: Metabolic engineering as therapy for inborn errors of metabolism--development of mice with phenylalanine hydroxylase expression in muscle.
Volume: 5
Issue: 5
Pages: 677-83
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Publication
37301931 | J:344273
First Author: Brooks DL
Year: 2023
Journal: Nat Commun
Title: Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing.
Volume: 14
Issue: 1
Pages: 3451
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Publication
37924808 | J:344302
First Author: Brooks DL
Year: 2023
Journal: Am J Hum Genet
Title: Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need.
Volume: 110
Issue: 12
Pages: 2003-2014
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Publication
19560382 | J:155030
First Author: Gunasekera RS
Year: 2009
Journal: Mol Genet Metab
Title: In vivo regulation of phenylalanine hydroxylase in the genetic mutant hph-1 mouse model.
Volume: 98
Issue: 3
Pages: 264-72
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Publication
2334400 | J:10464
First Author: Ledley FD
Year: 1990
Journal: Biochem J
Title: Mouse phenylalanine hydroxylase. Homology and divergence from human phenylalanine hydroxylase.
Volume: 267
Issue: 2
Pages: 399-405
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Publication
34353949 | J:324861
First Author: Li Y
Year: 2021
Journal: Science
Title: A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
Volume: 373
Issue: 6555
Pages: 662-673
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Publication
29514280 | J:261416
First Author: Eichinger A
Year: 2018
Journal: Hum Mol Genet
Title: Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism.
Volume: 27
Issue: 10
Pages: 1732-1742
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Publication
33824313 | J:305268
First Author: Aubi O
Year: 2021
Journal: Nat Commun
Title: The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase.
Volume: 12
Issue: 1
Pages: 2073
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Publication
1312261 | J:564
First Author: Liu TJ
Year: 1992
Journal: Somat Cell Mol Genet
Title: Reconstitution of enzymatic activity in hepatocytes of phenylalanine hydroxylase-deficient mice.
Volume: 18
Issue: 1
Pages: 89-96
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Publication
34819582 | J:327809
First Author: Manek R
Year: 2021
Journal: Sci Rep
Title: Blood phenylalanine reduction reverses gene expression changes observed in a mouse model of phenylketonuria.
Volume: 11
Issue: 1
Pages: 22886
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Publication
10767173 | J:62365
First Author: Sarkissian CN
Year: 2000
Journal: Mol Genet Metab
Title: A heteroallelic mutant mouse model: A new orthologue for human hyperphenylalaninemia.
Volume: 69
Issue: 3
Pages: 188-94
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Publication
31970201 | J:285460
 
First Author: Richards DY
Year: 2020
Journal: Mol Ther Methods Clin Dev
Title: AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria.
Volume: 17
Pages: 234-245
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Publication
16150627 | J:104163
 
First Author: Oh HJ
Year: 2005
Journal: Mol Genet Metab
Title: Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy.
Volume: 86 Suppl 1
Pages: S124-32
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Publication
28282402 | J:245508
First Author: Bell SM
Year: 2017
Journal: PLoS One
Title: Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria.
Volume: 12
Issue: 3
Pages: e0173269
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Publication
10407053 | J:56815
First Author: Zagreda L
Year: 1999
Journal: J Neurosci
Title: Cognitive deficits in a genetic mouse model of the most common biochemical cause of human mental retardation.
Volume: 19
Issue: 14
Pages: 6175-82
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Publication
33790381 | J:305392
First Author: Singh K
Year: 2021
Journal: Sci Rep
Title: CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria.
Volume: 11
Issue: 1
Pages: 7254
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Publication
11161825 | J:101010
First Author: Haefele MJ
Year: 2001
Journal: Mol Genet Metab
Title: Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).
Volume: 72
Issue: 1
Pages: 27-30
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Publication
2253840 | J:34758
First Author: Faust DM
Year: 1990
Journal: Differentiation
Title: Activation of phenylalanine hydroxylase expression following genomic DNA transfection of hepatoma cells.
Volume: 44
Issue: 1
Pages: 74-9
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Publication
15464429 | J:93169
First Author: Kure S
Year: 2004
Journal: Mol Genet Metab
Title: Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Volume: 83
Issue: 1-2
Pages: 150-6
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Publication
20179079 | J:159336
First Author: Gersting SW
Year: 2010
Journal: Hum Mol Genet
Title: Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.
Volume: 19
Issue: 10
Pages: 2039-49
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Publication
3360305 | J:9146
First Author: Bode VC
Year: 1988
Journal: Genetics
Title: hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesis.
Volume: 118
Issue: 2
Pages: 299-305
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Publication
16319947 | J:232168
First Author: Ding Z
Year: 2006
Journal: Gene Ther
Title: Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer.
Volume: 13
Issue: 7
Pages: 587-93
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Publication
8375656 | J:13320
First Author: Shedlovsky A
Year: 1993
Journal: Genetics
Title: Mouse models of human phenylketonuria.
Volume: 134
Issue: 4
Pages: 1205-10
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Publication
2308957 | J:10355
First Author: McDonald JD
Year: 1990
Journal: Proc Natl Acad Sci U S A
Title: Pahhph-5: a mouse mutant deficient in phenylalanine hydroxylase.
Volume: 87
Issue: 5
Pages: 1965-7
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Publication
28066199 | J:244919
 
First Author: Bruinenberg VM
Year: 2016
Journal: Front Behav Neurosci
Title: The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background.
Volume: 10
Pages: 233
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Publication
8965095 | J:121248
First Author: Dyer CA
Year: 1996
Journal: J Neuropathol Exp Neurol
Title: Evidence for central nervous system glial cell plasticity in phenylketonuria.
Volume: 55
Issue: 7
Pages: 795-814
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Publication
33993565 | J:308960
First Author: Mordhorst A
Year: 2021
Journal: FASEB J
Title: Phenylalanine hydroxylase contributes to serotonin synthesis in mice.
Volume: 35
Issue: 6
Pages: e21648
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Publication
15556637 | J:94591
First Author: Thöny B
Year: 2004
Journal: FEBS Lett
Title: Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.
Volume: 577
Issue: 3
Pages: 507-11
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Publication
15946242 | J:137411
First Author: Christensen R
Year: 2005
Journal: Exp Dermatol
Title: Characterization of transgenic mice with the expression of phenylalanine hydroxylase and GTP cyclohydrolase I in the skin.
Volume: 14
Issue: 7
Pages: 535-42
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Publication
21917493 | J:178220
First Author: Hamman KJ
Year: 2011
Journal: Mol Genet Metab
Title: Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU).
Volume: 104
Issue: 3
Pages: 235-40
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Allele
Pah<em1Xiwan> | MGI:7574694
Name: phenylalanine hydroxylase; endonuclease-mediated mutation 1, Xiao Wang
Allele Type: Endonuclease-mediated
Attribute String: Humanized sequence
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Protein Coding Gene
MGP_CAROLIEiJ_G0015700 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0017619 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0017598 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0017556 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0017561 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0017384 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_97473 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0018018 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0016949 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0017353 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0017459 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0017451 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0017533 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0017482 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0018055 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0016730 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0017008 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0031385 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0016518 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
9119379 | J:38411
First Author: McDonald JD
Year: 1997
Journal: Genomics
Title: Characterization of mutations at the mouse phenylalanine hydroxylase locus.
Volume: 39
Issue: 3
Pages: 402-5
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Publication
11749047 | J:101674
First Author: Cho S
Year: 2001
Journal: Mol Genet Metab
Title: Effect of maternal blood phenylalanine level on mouse maternal phenylketonuria offspring.
Volume: 74
Issue: 4
Pages: 420-5
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Publication
23028819 | J:191864
First Author: Solverson P
Year: 2012
Journal: PLoS One
Title: Low bone strength is a manifestation of phenylketonuria in mice and is attenuated by a glycomacropeptide diet.
Volume: 7
Issue: 9
Pages: e45165
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Publication
11978492 | J:77922
First Author: Ercal N
Year: 2002
Journal: Free Radic Biol Med
Title: Oxidative stress in a phenylketonuria animal model.
Volume: 32
Issue: 9
Pages: 906-11
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Publication
22951387 | J:190148
First Author: Seagraves NJ
Year: 2012
Journal: Mol Genet Metab
Title: Cardiac teratogenicity in mouse maternal phenylketonuria: defining phenotype parameters and genetic background influences.
Volume: 107
Issue: 4
Pages: 650-8
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Publication
25218179 | J:220089
First Author: Dobrowolski SF
Year: 2014
Journal: Mol Genet Metab
Title: Methylome repatterning in a mouse model of Maternal PKU Syndrome.
Volume: 113
Issue: 3
Pages: 194-9
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Publication
30875376 | J:273182
First Author: Bruinenberg VM
Year: 2019
Journal: PLoS One
Title: Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU).
Volume: 14
Issue: 3
Pages: e0213391
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Publication
11005872 | J:64741
First Author: Smith CB
Year: 2000
Journal: Proc Natl Acad Sci U S A
Title: Cerebral protein synthesis in a genetic mouse model of phenylketonuria.
Volume: 97
Issue: 20
Pages: 11014-9
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Publication
12837019 | J:83609
First Author: Cabib S
Year: 2003
Journal: Behav Genet
Title: The behavioral profile of severe mental retardation in a genetic mouse model of phenylketonuria.
Volume: 33
Issue: 3
Pages: 301-10
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Publication
28520731 | J:248520
First Author: Durrer KE
Year: 2017
Journal: PLoS One
Title: Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAHenu2 mouse model of PKU.
Volume: 12
Issue: 5
Pages: e0176286
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Publication
29331172 | J:277986
First Author: Winn SR
Year: 2018
Journal: Mol Genet Metab
Title: Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice.
Volume: 123
Issue: 1
Pages: 6-20
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Publication
15110326 | J:91053
First Author: Gropper SS
Year: 2004
Journal: Mol Genet Metab
Title: Plasma phenylalanine concentrations are associated with hepatic iron content in a murine model for phenylketonuria.
Volume: 82
Issue: 1
Pages: 76-82
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