Search Results - "Mattos, Eduardo P."

CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3 by Leotti, Vanessa B., Vries, Jeroen J., Oliveira, Camila M., Mattos, Eduardo P., Te Meerman, Gerard J., Brunt, Ewout R., Kampinga, Harm H., Jardim, Laura B., Verbeek, Dineke S.

“…Objective In spinocerebellar ataxia type 3/Machado‐Joseph disease (SCA3/MJD), the expanded cytosine adenine guanine (CAG) repeat in ATXN3 is the causal…”
Get full text

The S/T-Rich Motif in the DNAJB6 Chaperone Delays Polyglutamine Aggregation and the Onset of Disease in a Mouse Model by Kakkar, Vaishali, Månsson, Cecilia, de Mattos, Eduardo P., Bergink, Steven, van der Zwaag, Marianne, van Waarde, Maria A.W.H., Kloosterhuis, Niels J., Melki, Ronald, van Cruchten, Remco T.P., Al-Karadaghi, Salam, Arosio, Paolo, Dobson, Christopher M., Knowles, Tuomas P.J., Bates, Gillian P., van Deursen, Jan M., Linse, Sara, van de Sluis, Bart, Emanuelsson, Cecilia, Kampinga, Harm H.

“…Expanded CAG repeats lead to debilitating neurodegenerative disorders characterized by aggregation of proteins with expanded polyglutamine (polyQ) tracts. The…”
Get full text

DNAJB6, a Key Factor in Neuronal Sensitivity to Amyloidogenesis by Thiruvalluvan, Arun, de Mattos, Eduardo P., Brunsting, Jeanette F., Bakels, Rob, Serlidaki, Despina, Barazzuol, Lara, Conforti, Paola, Fatima, Azra, Koyuncu, Seda, Cattaneo, Elena, Vilchez, David, Bergink, Steven, Boddeke, Erik H.W.G., Copray, Sjef, Kampinga, Harm H.

“…CAG-repeat expansions in at least eight different genes cause neurodegeneration. The length of the extended polyglutamine stretches in the corresponding…”
Get full text

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability by Mattos, Eduardo P., Silva, André Anjos da, Magalhães, José Antônio A, Leite, Júlio César L., Leistner-Segal, Sandra, Gus-Kessler, Rejane, Perez, Juliano Adams, Vedolin, Leonardo M., Torreblanca-Zanca, Albertina, Lapunzina, Pablo, Ruiz-Perez, Victor L., Sanseverino, Maria Teresa V.

“…In some cases Neu‐Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (PHGDH) gene. We describe the…”
Get full text

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations by Mattos, Eduardo P, Sanseverino, Maria Teresa V, Magalhães, José Antônio A, Leite, Júlio César L, Félix, Temis Maria, Todeschini, Luiz Alberto, Cavalcanti, Denise P, Schüler-Faccini, Lavinia

“…Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed…”
Get full text

Chaperones in Polyglutamine Aggregation: Beyond the Q-Stretch by Kuiper, E F E, de Mattos, Eduardo P, Jardim, Laura B, Kampinga, Harm H, Bergink, Steven

“…Expanded polyglutamine (polyQ) stretches in at least nine unrelated proteins lead to inherited neuronal dysfunction and degeneration. The expansion size in all…”
Get full text

Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7 by Azevedo, Pietro B., Rocha, Anastácia G., Keim, Leda M. N., Lavinsky, Daniel, Furtado, Gabriel V., de Mattos, Eduardo P., Vargas, Fernando R., Leotti, Vanessa B., Saraiva-Pereira, Maria-Luiza, Jardim, Laura B.

“…Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine disease that progressively affects the cerebellum, brainstem, and retina. SCA7 is quite rare, and…”
Get full text

Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V by Brizola, Evelise, Mattos, Eduardo P., Ferrari, Jessica, Freire, Patricia O.A., Germer, Raquel, Llerena Jr, Juan C., Félix, Têmis M.

“…Osteogenesis imperfecta type V (OI-V) has a wide clinical variability, with distinct clinical/radiological features, such as calcification of the interosseous…”
Get full text

Misoprostol: A retrospective analysis of consultations to a Brazilian Teratology Information Service by Hoffmeister, Mariana C., Lopes, Flávia V., Sanseverino, Paula B., Mattos, Eduardo P., Ferrão, Maurício F., Franciosi, Betina P., Metzdorf, Luiza, Metzdorf, Marcela, Crestani, Paulo V., Silva, André A., Vianna, Fernanda S.L., Azevedo, Ligia M.R., Sanseverino, Maria Teresa V., Schüler-Faccini, Lavinia

Get full text