Funding Information: Open access funding provided by FCT|FCCN (b-on). This research was funded by the project grant DSAIPA/DS/0117/2020, supported by FCT \u2013 Funda\u00E7\u00E3o para a Ci\u00EAncia e Tecnologia, I.P. Cristiana P. Von Rekowski and R\u00FAben Ara\u00FAjo acknowledge support from FCT through the PhD grants 2023.01951.BD (DOI: https://doi.org/ https://doi.org/10.54499/2023.01951.BD ) and 2021.055...
Atherosclerosis can be described as a local acquired lysosomal storage disorder (LSD), resulting from the build-up of undegraded material in lysosomes. Atherosclerotic foam cells accumulate cholesterol (Chol) and glycosphingolipids (GSLs) within lysosomes. This constitutes the ideal milieu for the formation of a side product of lysosomal storage: glucosylated cholesterol (GlcChol), previously found in several L...
Funding Information: This research was funded by the project grant DSAIPA/DS/0117/2020, supported by FCT\u2014Funda\u00E7\u00E3o para a Ci\u00EAncia e Tecnologia, I.P. Cristiana P. Von Rekowski and R\u00FAben Ara\u00FAjo acknowledge the support received from FCT through the PhD grants 2023.01951.BD (DOI: https://doi.org/10.54499/2023.01951.BD) and 2021.05553.BD (DOI: https://doi.org/10.54499/2021.05553.BD), res...
Introduction: Although frequently assumed to be age-related changes, vascular white matter lesions (WML) are sometimes found in young adults. Etiology is usually attributed to sporadic small vessel disease; nevertheless, genetic disorders may also be implicated. We aimed to characterize the population of young adults with vascular WML in Neurology outpatient clinics. Methods: Neurologists from 12 Portuguese hos...
Background: Enzyme replacement therapy (ERT) with recombinant human a-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations. Methods: We conducted a comprehensive systematic literature review of all original art...
Cerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene with susceptibility to cardiovascular and metabolic phenotypes, but no studies have yet been perfo...
BACKGROUND: The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to ...
Cerebrovascular and cardiovascular diseases are the leading causes of death and disability worldwide. They are complex disorders resulting from the interplay of genetic and environmental factors, and may share several susceptibility genes. Several recent studies have implicated variants of the Kalirin (KALRN) gene with susceptibility to cardiovascular and metabolic phenotypes, but no studies have yet been perfo...
INTRODUÇÃO: Estudos prévios, com técnicas de imagem, documentam de forma consistente a existência de alterações da substância branca cerebral relacionadas com o envelhecimento (ASBRE). Tais alterações poderão ter um papel importante no declínio funcional do idoso, reflectindo‐se sobretudo no desempenho motor e cognitivo, com repercussão evidente na prática clínica. Apesar disso, a caracterização em definitivo d...