4 research outputs found
Levantamento FlorĂstico do Componente ArbĂłreo de Duas Ăreas de CerradĂŁo em Campo Grande-MS, Brasil
Levantamento FlorĂstico do Componente ArbĂłreo de Duas Ăreas de CerradĂŁo em Campo Grande-MS, Brasil
Machado-Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is an incurable disorder, widely regarded as the most common form of spinocerebellar ataxia in the world. MJD/SCA3 arises from mutation of the ATXN3 gene, but this simple monogenic cause contrasts with the complexity of the pathogenic mechanisms that are currently admitted to underlie neuronal dysfunction and death. The aberrantly expanded protein product - ataxin-3 - is known to aggregate and generate toxic species that disrupt several cell systems, including autophagy, proteostasis, transcription, mitochondrial function and signalling. Over the years, research into putative therapeutic approaches has often been devoted to the development of strategies that counteract disease at different stages of cellular pathogenesis. Silencing the pathogenic protein, blocking aggregation, inhibiting toxic proteolytic processing and counteracting dysfunctions of the cellular systems affected have yielded promising ameliorating results in studies with cellular and animal models. The current review analyses the available studies dedicated to the investigation of MJD/SCA3 pathogenesis and the exploration of possible therapeutic strategies, focusing primarily on gene therapy and pharmacological approaches rooted on the molecular and cellular mechanisms of disease.European Union through the European social fund
FEDER through the Competitive Factors Operational Program - COMPETE
POPH
QREN
French Muscular Dystrophy Association (AFM-Telethon)
Ataxia UK
FEDER through the Competitive Factors Operational Program-COMPETE
CENTRO-07-ST24-FEDER-002002
National Funds (PIDDAC)
Portuguese Foundation for Science and Technology (FCT)
UID/NEU/04539/2013
French Muscular Dystrophy Association (AFM)
National Ataxia Foundation (NAF)
Richard Chin and Lily Lock MachadoJoseph disease Research Fund
BrainHealth 2020 - Deteccao Precoce, Neuromodulacao e Terapias Avancadas para Neuropatologias
CENTRO-01-0145-FEDER-000008
Joint call for European Research Project on Rare Diseases
E-Rare4/0003/2012info:eu-repo/semantics/publishedVersio