Detalhe da pesquisa
1.
Meeting report - Desmosome dysfunction and disease: Alpine desmosome disease meeting.
J Cell Sci
; 136(1)2023 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36594662
2.
Development of precision therapies for rare inborn errors of metabolism: Functional investigations in cell culture models.
J Inherit Metab Dis
; 2023 Aug 22.
Artigo
Inglês
| MEDLINE | ID: mdl-37606592
3.
Validation of Aspartylglucosaminidase Activity Assay for Human Serum Samples: Establishment of a Biomarker for Diagnostics and Clinical Studies.
Int J Mol Sci
; 24(6)2023 Mar 16.
Artigo
Inglês
| MEDLINE | ID: mdl-36982794
4.
Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation.
Mol Ther
; 29(3): 989-1000, 2021 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33186692
5.
Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria.
J Inherit Metab Dis
; 43(2): 318-325, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31415096
6.
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
Int J Mol Sci
; 21(22)2020 Nov 13.
Artigo
Inglês
| MEDLINE | ID: mdl-33203024
7.
Flotillins in the intercalated disc are potential modulators of cardiac excitability.
J Mol Cell Cardiol
; 126: 86-95, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30452906
8.
Mitogen-Activated Protein Kinases: Functions in Signal Transduction and Human Diseases.
Int J Mol Sci
; 20(19)2019 Sep 29.
Artigo
Inglês
| MEDLINE | ID: mdl-31569533
9.
Immortalized Human hTert/KER-CT Keratinocytes a Model System for Research on Desmosomal Adhesion and Pathogenesis of Pemphigus Vulgaris.
Int J Mol Sci
; 20(13)2019 Jun 26.
Artigo
Inglês
| MEDLINE | ID: mdl-31247885
10.
Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria.
Biochim Biophys Acta Mol Basis Dis
; 1864(3): 668-675, 2018 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-29247835
11.
Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis.
Int J Mol Sci
; 19(2)2018 Feb 22.
Artigo
Inglês
| MEDLINE | ID: mdl-29470438
12.
Functional Analysis of the Ser149/Thr149 Variants of Human Aspartylglucosaminidase and Optimization of the Coding Sequence for Protein Production.
Int J Mol Sci
; 18(4)2017 Mar 26.
Artigo
Inglês
| MEDLINE | ID: mdl-28346360
13.
Cholinergic transactivation of the EGFR in HaCaT keratinocytes stimulates a flotillin-1 dependent MAPK-mediated transcriptional response.
Int J Mol Sci
; 16(3): 6447-63, 2015 Mar 20.
Artigo
Inglês
| MEDLINE | ID: mdl-25803106
14.
Flotillin-1 facilitates toll-like receptor 3 signaling in human endothelial cells.
Basic Res Cardiol
; 109(6): 439, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25204797
15.
Epidermal growth factor receptor transactivation is required for mitogen-activated protein kinase activation by muscarinic acetylcholine receptors in HaCaT keratinocytes.
Int J Mol Sci
; 15(11): 21433-54, 2014 Nov 21.
Artigo
Inglês
| MEDLINE | ID: mdl-25421240
16.
Type 2 T-Cell Responses against Distinct Epitopes of the Desmoglein 3 Ectodomain in Pemphigus Vulgaris.
J Invest Dermatol
; 144(2): 263-272.e8, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37717934
17.
Flotillin-1/reggie-2 protein plays dual role in activation of receptor-tyrosine kinase/mitogen-activated protein kinase signaling.
J Biol Chem
; 287(10): 7265-78, 2012 Mar 02.
Artigo
Inglês
| MEDLINE | ID: mdl-22232557
18.
Phosphatidylinositol 3-Kinase dependent upregulation of the epidermal growth factor receptor upon Flotillin-1 depletion in breast cancer cells.
BMC Cancer
; 13: 575, 2013 Dec 05.
Artigo
Inglês
| MEDLINE | ID: mdl-24304721
19.
Regulation of ubiquitin-binding proteins by monoubiquitination.
Nat Cell Biol
; 8(2): 163-9, 2006 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-16429130
20.
Mitogen-Activated Protein (MAP) Kinase Scaffolding Proteins: A Recount.
Int J Mol Sci
; 14(3): 4854-84, 2013 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23455463