| Type | Description |
|---|---|
| Definition | phenylalanine hydroxylase |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:18:00 | The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase. | 33824313 |
| 2019-06-22 11:56:00 | In PAH deficient MSCs, expression of Col1A1 and Rankl are suppressed by hyperphenylalaninemia consistent with reduced bone formation and bone turnover. Osteopenia is intrinsic to phenylketonuria (PKU) pathology in untreated Pah(enu2) animals and our data suggests PHE toxicity participates by inhibiting mineralization in the course of MSC bone differentiation. | 30201326 |
| 2019-05-11 10:33:00 | We observed mRNA correction rates up to 63%, restoration of phenylalanine hydroxylase (PAH) enzyme activity, and reversion of the light fur phenotype in Pah(enu2) mice. Our findings suggest that targeting genetic diseases in vivo using AAV-mediated delivery of base-editing agents is feasible, demonstrating potential for therapeutic application. | 30297904 |
| 2019-02-16 10:26:00 | We demonstrate that kinetically instable and aggregation-prone variant Pah proteins trap BH4, shifting the pool of free BH4 towards bound BH4. Interference of PAH protein misfolding with metabolite-based control of l-phenylalanine turnover suggests a mechanistic link between perturbation of protein homeostasis and disturbed regulation of metabolic pathways. | 29514280 |
| 2018-12-22 10:25:00 | We propose that CNS monoamine deficiency may be the cause of the partially reversible adverse behavioral effects associated with chronic HPA in Pah(enu2) mice, but that phenylalanine-reducing treatments initiated during adulthood are unable to correct the neuropathology and attendant cognitive deficits that develop during juvenile life in late-treated Pah(enu2/enu2) mice | 29331172 |
| Type | IDs |
|---|---|
| Synonymous | AW106920 |
| Gene |
UniProtKB-ID:
PH4H_MOUSE,
Q3UEH8_MOUSE
UniprotKB:
P16331,
Q3UEH8
UniParc:
UPI00000217ED,
UPI00005AC8B7
EMBL:
AC122360,
AK149519,
BC013458,
X51942
Ensembl:
ENSMUSG00000020051
KO:
mmu:18478
|
| Nucleutide sequences |
EMBL-CDS:
CAA36205.1,
AAH13458.1,
BAE28933.1
Ensembl_TRS:
ENSMUST00000020241
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000020241
RefSeq:
NP_032803.2
|
| Others |
UniRef100:
UniRef100_P16331,
UniRef100_Q3UEH8
UniRef90:
UniRef90_P00439
UniRef50:
UniRef50_P00439
UniGene:
Mm.263539
CCDS:
CCDS24102.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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