Exploring Lysosomal dysfunction in Neuronal Ceroid Lipofuscinosis 

Investigador: Maria do Carmo Macário
Instituição: CHUC / CNC, Coimbra

The loss of progranulin (PGRN) expression has been directly linked with neurodegeneration in the form of neuronal ceroid lipofuscinosis 11 (NCL11), a lysosomal storage disease observed in homozygous GRN mutation carriers, or frontotemporal lobar degeneration (FTLD), an early-onset dementia present in individuals with heterozygous mutations in this gene. We recently identified a NCL11 patient bearing a homozygous GRN mutation which is one of three described cases in the world and the first one identified as a member of a family with several cases of FTLD with genetic and neuropathological confirmation. Despite recent efforts, it is still unclear how alterations in PGRN levels contribute to neuronal loss in this two pathologies, which have completely different phenotypes.

Saiba mais

The effect of Globotriaosylceramide on invariant Natural Killer T cell activation 

Investigador: Maria de Fátima Macedo
Instituição: UniLiPe – IBMC, Porto

Fabry disease is a lysosomal storage disease (LSD) characterized by the accumulation of globotriaosylceramide (Gb3). The aim of this project is to investigate whether Gb3 is a regulator of the immune response through a direct effect in Invariant Natural Killer T (iNKT) cell regulation, which may contribute to the definition of a new mechanism explaining the iNKT cell abnormalities found in other LSDs.

Saiba mais

Development of a U1 snRNA-adapted gene therapeutic strategy to correct 5’ splicing defects in lysosomal storage disorders

Investigador: Liliana Matos
Instituição: Departamento de Genética Humana – INSA, Porto

In this work, an antisense-snRNA therapeutic strategy will be developed for mutations present in Mucopolysaccharidosis 1 and Mucolipidosis III patients.

Saiba mais

Molecular and cellular defects of cystatin B – from cell to population 

Investigador: Ana Joana Duarte
Instituição: Departamento de Genética – INSA, Porto

Este trabalho foca-se na caracterização mutacional do gene Cystatin B na população Portuguesa e identificação da distribuíção subcelular da Cystatin B em doentes com a doença de Unverricht-Lundborg, de modo a melhor compreender a sua patofisiologia.

Saiba mais

Cytokine production by inkt cells in Fabry disease 

Investigador: Maria de Fátima Macedo
Instituição: IBMC – Porto

O objetivo deste projeto é determinar a produção de citocinas pelas células iNKT e subpopulações de células iNKT em doentes com doença de Fabry, bem como no modelo animal de doença de Fabry.

O apoio financeiro concedido por este prémio contribuiu para o trabalho apresentado na seguinte publicação:
Pereira CS, Azevedo O, Maia ML, Dias AF, Sa Miranda MC, Macedo MF. Invariant Natural Killer T cells are phenotypically and functionally altered in Fabry disease. Mol Genet Metab. 2013 108 (4) 241-248

Saiba mais