Detalles de la búsqueda
1.
Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.
J Inherit Metab Dis
; 46(5): 931-942, 2023 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37309295
2.
DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo.
Hum Mol Genet
; 29(7): 1168-1179, 2020 05 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32160276
3.
Correlation Between Ophthalmologic and Neuroradiologic Findings in Type 1 Neurofibromatosis.
J Neuroophthalmol
; 42(1): 101-107, 2022 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33770007
4.
Functional Versatility of the Human 2-Oxoadipate Dehydrogenase in the L-Lysine Degradation Pathway toward Its Non-Cognate Substrate 2-Oxopimelic Acid.
Int J Mol Sci
; 23(15)2022 Jul 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-35897808
5.
Structure-function analyses of the G729R 2-oxoadipate dehydrogenase genetic variant associated with a disorder of l-lysine metabolism.
J Biol Chem
; 295(23): 8078-8095, 2020 06 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-32303640
6.
Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains.
Mol Genet Metab
; 132(2): 139-145, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33483254
7.
Systematic Modification and Evaluation of Enzyme-Loaded Chitosan Nanoparticles.
Int J Mol Sci
; 22(15)2021 Jul 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-34360752
8.
The lysine degradation pathway: Subcellular compartmentalization and enzyme deficiencies.
Mol Genet Metab
; 131(1-2): 14-22, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32768327
9.
Deletion of 2-aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1.
J Inherit Metab Dis
; 43(6): 1154-1164, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32567100
10.
Clinical Characteristics of the Charles Bonnet Syndrome in Patients with Neovascular Age-Related Macular Degeneration: The Importance of Early Detection.
Ophthalmic Res
; 63(5): 466-473, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-31986513
11.
Mild inborn errors of metabolism in commonly used inbred mouse strains.
Mol Genet Metab
; 126(4): 388-396, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30709776
12.
Unveiling the Pathogenic Molecular Mechanisms of the Most Common Variant (p.K329E) in Medium-Chain Acyl-CoA Dehydrogenase Deficiency by in Vitro and in Silico Approaches.
Biochemistry
; 55(51): 7086-7098, 2016 Dec 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-27976856
13.
Exogenous citrate impairs glucose tolerance and promotes visceral adipose tissue inflammation in mice.
Br J Nutr
; 115(6): 967-73, 2016 Mar 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-26863933
14.
Please, more tears: a case of a moth feeding on antbird tears in central Amazonia.
Ecology
; 100(2): e02518, 2019 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30222853
15.
Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.
J Inherit Metab Dis
; 37(4): 505-23, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24687294
16.
Characterization, structure and inhibition of the human succinyl-CoA:glutarate-CoA transferase, a genetic modifier of glutaric aciduria type 1.
bioRxiv
; 2024 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38370847
17.
Isothermal denaturation fluorimetry vs differential scanning fluorimetry as tools for screening of stabilizers for protein freeze-drying: Human phenylalanine hydroxylase as the case study.
Eur J Pharm Biopharm
; 187: 1-11, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37011788
18.
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency.
Elife
; 122023 03 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-36881526
19.
Heterotetrameric forms of human phenylalanine hydroxylase: co-expression of wild-type and mutant forms in a bicistronic system.
Biochim Biophys Acta
; 1812(5): 602-12, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21315150
20.
Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation.
Biochim Biophys Acta
; 1812(1): 106-20, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-20937381