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Mariana Santos
Mariana Santos
I3S-IBMC
Verified email at ibmc.up.pt
Title
Cited by
Cited by
Year
Protein phosphatase 1 is a key player in nuclear events
S Rebelo, M Santos, F Martins, EFC e Silva, OABC e Silva
Cellular signalling 27 (12), 2589-2598, 2015
982015
Rare and common variants conferring risk of tooth agenesis
L Jonsson, TE Magnusson, A Thordarson, T Jonsson, F Geller, B Feenstra, ...
Journal of dental research 97 (5), 515-522, 2018
492018
Identification of a novel human LAP1 isoform that is regulated by protein phosphorylation.
RS Santos M, Domingues SC, Costa P, Muller T, Galozzi S, Marcus K, da Cruz e ...
PLoS One 9, e113732, 2014
452014
Identification of a Novel Complex AβPP: Fe65: PP1 that Regulates AβPP Thr668 Phosphorylation Levels
S Rebelo, SC Domingues, M Santos, M Fardilha, SLC Esteves, SI Vieira, ...
Journal of Alzheimer's Disease 35 (4), 761-775, 2013
332013
LAP1 is a crucial protein for the maintenance of the nuclear envelope structure and cell cycle progression
M Santos, P Costa, F Martins, EF da Cruz e Silva, OAB da Cruz e Silva, ...
Molecular and cellular biochemistry 399, 143-153, 2015
282015
The nuclear envelope protein, LAP1B, is a novel protein phosphatase 1 substrate
M Santos, S Rebelo, PJM Van Kleeff, CE Kim, WT Dauer, M Fardilha, ...
PloS one 8 (10), e76788, 2013
282013
Comparison of simple sucrose and percoll based methodologies for synaptosome enrichment
P Tenreiro, S Rebelo, F Martins, M Santos, ED Coelho, M Almeida, ...
Analytical Biochemistry 517, 1-8, 2017
222017
Nuclear Accumulation of LAP1: TRF2 Complex during DNA Damage Response Uncovers a Novel Role for LAP1
CD Pereira, F Martins, M Santos, T Müeller, OAB da Cruz e Silva, ...
Cells 9 (8), 1804, 2020
192020
BRI2 and BRI3 are functionally distinct phosphoproteins
F Martins, S Rebelo, M Santos, CZ Cotrim, EFC e Silva, OABC e Silva
Cellular signalling 28 (1), 130-144, 2016
142016
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia
M Santos, J Damásio, S Carmona, JL Neto, N Dehghani, LC Guedes, ...
Cells 11 (6), 981, 2022
62022
Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype
J Damásio, M Santos, R Samões, M Araújo, M Macedo, A Sardoeira, ...
Clinical Genetics 100 (6), 743-747, 2021
52021
Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome
JL Pedroso, TC Vale, SCG da Costa, M Santos, I Alonso, OGP Barsottini
Tremor and Other Hyperkinetic Movements 10, 2020
52020
Validation of LAP1B as a novel Protein Phosphatase 1 regulator
M Santos
Aveiro: Biology Department, University of Aveiro, 2009
52009
Parkin truncating variants result in a loss-of-function phenotype
M Santos, S Morais, C Pereira, J Sequeiros, I Alonso
Scientific Reports 9 (1), 16150, 2019
42019
Integrating functional scoring and regulatory data to predict the effect of non-coding SNPs in a complex neurological disease
D Felício, M Alves-Ferreira, M Santos, M Quintas, AM Lopes, C Lemos, ...
Briefings in Functional Genomics 23 (2), 138-149, 2024
32024
Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype
M Santos, J Damásio, C Kun-Rodrigues, C Barbot, J Sequeiros, J Brás, ...
Journal of Clinical Medicine 9 (4), 1212, 2020
32020
DYT1 dystonia-associated mutant affects cytoskeletal dynamics
M Santos, S Rebelo, EFC e Silva, OABC e Silva
Microscopy and Microanalysis 21 (S6), 26, 2015
32015
TREX1 p. A129fs and p. Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients
M Foddis, S Blumenau, M Holtgrewe, K Paquette, K Westra, I Alonso, ...
Neurobiology of Aging 123, 208-215, 2023
22023
Clinical and genetic characterization of Brazilian patients with ataxia and oculomotor apraxia
SCG da Costa, FM Rezende Filho, JL de Freitas, ...
Movement Disorders 37 (6), 1309-1316, 2022
22022
Progressive Microcephaly, Spasticity and Development Delay: Novel SLC1A4 Variants in Two Portuguese Families and Literature Review
J Teixeira, S Dória, M Santos, I Alonso, M Leão
J Genet Genomic Sci 5 (017), 2020
22020
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