Detalhe da pesquisa
1.
Ankyrin-G induces nucleoporin Nup358 to associate with the axon initial segment of neurons.
J Cell Sci
; 132(18)2019 09 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31427429
2.
Increased transcription of transglutaminase 1 mediates neuronal death in in vitro models of neuronal stress and Aß1-42-mediated toxicity.
Neurobiol Dis
; 140: 104849, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32222473
3.
Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I.
Nanomedicine
; 13(3): 897-907, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27993722
4.
Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.
Biochim Biophys Acta
; 1854(10 Pt A): 1280-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26149463
5.
S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
Hum Mol Genet
; 23(22): 5998-6007, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24990153
6.
S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.
Hum Mol Genet
; 22(8): 1615-24, 2013 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23321058
7.
Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
Biochim Biophys Acta
; 1832(12): 2277-88, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24055001
8.
K644E/M FGFR3 mutants activate Erk1/2 from the endoplasmic reticulum through FRS2 alpha and PLC gamma-independent pathways.
J Mol Biol
; 357(3): 783-92, 2006 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-16476447
9.
Primary cortical neurons on PMCS TiO2 films towards bio-hybrid memristive device: A morpho-functional study.
Biophys Chem
; 229: 115-122, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28476206
10.
Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.
PLoS One
; 9(4): e94338, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24718375
11.
Rapid profiling of disease alleles using a tunable reporter of protein misfolding.
Genetics
; 192(3): 831-42, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22923379