Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
about
S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluriaInnovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.Molecular characterization of HIV-1 Nef and ACOT8 interaction: insights from in silico structural predictions and in vitro functional assaysRadiation damage at the active site of human alanine:glyoxylate aminotransferase reveals that the cofactor position is finely tuned during catalysisPLP-dependent enzymes.Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6.Folding Defects Leading to Primary Hyperoxaluria.Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype.Evolutionary Divergent Suppressor Mutations in Conformational Diseases
P2860
Q34379056-D16B972E-D325-4E5E-B0A6-205C06F36CE0Q35144060-F911F243-D6D0-4D33-A7EF-84149786C308Q38200933-28FE8A73-7B99-401D-A065-C1F4123D76DFQ38688677-D3474250-B1C0-46E7-8446-4DF7644493C5Q41718354-F7D82D28-2745-41D1-BF7C-D4C95FBFE7CDQ41820414-D4F26620-860D-475D-924D-4F076BCEBD2DQ47433097-35E005DF-64F4-4DE8-B561-1F3F76694D14Q47602222-6EBDE806-F208-4EAD-9733-8100E39A5D5BQ50576688-35355D69-8C82-4CE3-A88D-DB6C80AB2947Q53170036-D5B0B119-DEA3-4108-ABD6-60D8A880B9BCQ57578354-3D768323-B456-4ECA-BF97-C5B061584F04
P2860
Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
description
2013 nî lūn-bûn
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name
Gly161 mutations associated wi ...... e:glyoxylate aminotransferase.
@en
Gly161 mutations associated wi ...... e:glyoxylate aminotransferase.
@nl
type
label
Gly161 mutations associated wi ...... e:glyoxylate aminotransferase.
@en
Gly161 mutations associated wi ...... e:glyoxylate aminotransferase.
@nl
prefLabel
Gly161 mutations associated wi ...... e:glyoxylate aminotransferase.
@en
Gly161 mutations associated wi ...... e:glyoxylate aminotransferase.
@nl
P2093
P1476
Gly161 mutations associated wi ...... e:glyoxylate aminotransferase.
@en
P2093
Alessandro Roncador
Barbara Cellini
Riccardo Montioli
Silvia Bianconi
P304
P356
10.1016/J.BBADIS.2013.09.002
P50
P577
2013-09-17T00:00:00Z