Andre T Lopes
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Explore the profile of Andre T Lopes including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
155
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Recent Articles
1.
Sampedro-Castaneda M, Baltussen L, Lopes A, Qiu Y, Sirvio L, Mihaylov S, et al.
Nat Commun
. 2023 Dec;
14(1):7830.
PMID: 38081835
Developmental and epileptic encephalopathies (DEEs) are a group of rare childhood disorders characterized by severe epilepsy and cognitive deficits. Numerous DEE genes have been discovered thanks to advances in genomic...
2.
Eder N, Roncaroli F, Domart M, Horswell S, Andreiuolo F, Flynn H, et al.
Nat Commun
. 2020 Sep;
11(1):4934.
PMID: 32985498
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
3.
Lopes A, Hausrat T, Heisler F, Gromova K, Lombino F, Fischer T, et al.
PLoS Biol
. 2020 Sep;
18(8):e3000820.
PMID: 32866173
Mutations in the gene encoding the microtubule-severing protein spastin (spastic paraplegia 4 [SPG4]) cause hereditary spastic paraplegia (HSP), associated with neurodegeneration, spasticity, and motor impairment. Complicated forms (complicated HSP [cHSP])...
4.
Eder N, Roncaroli F, Domart M, Horswell S, Andreiuolo F, Flynn H, et al.
Nat Commun
. 2020 May;
11(1):2380.
PMID: 32404936
YAP1 gene fusions have been observed in a subset of paediatric ependymomas. Here we show that, ectopic expression of active nuclear YAP1 (nlsYAP5SA) in ventricular zone neural progenitor cells using...
5.
Lombino F, Muhia M, Lopez-Rojas J, Brill M, Thies E, Ruschkies L, et al.
Sci Rep
. 2019 Nov;
9(1):15940.
PMID: 31685876
Microtubule severing regulates cytoskeletal rearrangement underlying various cellular functions. Katanin, a heterodimer, consisting of catalytic (p60) and regulatory (p80) subunits severs dynamic microtubules to modulate several stages of cell division....
6.
Neves-Carvalho A, Logarinho E, Freitas A, Duarte-Silva S, Costa M, Silva-Fernandes A, et al.
Hum Mol Genet
. 2014 Aug;
24(1):100-17.
PMID: 25143392
The physiological function of Ataxin-3 (ATXN3), a deubiquitylase (DUB) involved in Machado-Joseph Disease (MJD), remains elusive. In this study, we demonstrate that ATXN3 is required for neuronal differentiation and for...
7.
Sotiropoulos I, Lopes A, Pinto V, Lopes S, Carlos S, Duarte-Silva S, et al.
Exp Neurol
. 2014 Aug;
261:486-93.
PMID: 25079367
Tau protein hyperphosphorylation and consequent malfunction are hallmarks of Alzheimer's disease pathology; importantly, pain perception is diminished in these patients. In physiological conditions, Tau contributes to cytoskeletal dynamics and in...
8.
Ferreira da Silva T, Eira J, Lopes A, Malheiro A, Sousa V, Luoma A, et al.
J Clin Invest
. 2014 Apr;
124(6):2560-70.
PMID: 24762439
Rhizomelic chondrodysplasia punctata (RCDP) is a developmental disorder characterized by hypotonia, cataracts, abnormal ossification, impaired motor development, and intellectual disability. The underlying etiology of RCDP is a deficiency in the...