S Vrijsen, M Houdou, A Cascalho… - Annual Review of …, 2023 - annualreviews.org
The polyamines putrescine, spermidine, and spermine are abundant polycations of vital importance in mammalian cells. Their cellular levels are tightly regulated by degradation …
LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden… - Brain, 2017 - academic.oup.com
Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of …
SA Schneider, RN Alcalay - Movement Disorders, 2017 - Wiley Online Library
Clinical–pathological studies remain the gold‐standard for the diagnosis of Parkinson's disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis …
PPY Lie, RA Nixon - Neurobiology of disease, 2019 - Elsevier
Lysosomes, single-membrane organelles defined by a uniquely strong acidic lumenal pH and high content of acid hydrolases, are the shared degradative compartments of the …
A Lunati, S Lesage, A Brice - Revue neurologique, 2018 - Elsevier
The cause of Parkinson's disease (PD) remains unknown in most patients. Since 1997, with the first genetic mutation known to cause PD described in SNCA gene, many other genes …
SE Mole, SL Cotman - Biochimica et Biophysica Acta (BBA)-Molecular …, 2015 - Elsevier
The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative disorders that affect children and adults and are grouped together by similar clinical features …
A Navarro-Romero, M Montpeyó, M Martinez-Vicente - Cells, 2020 - mdpi.com
Lysosomal function has a central role in maintaining neuronal homeostasis, and, accordingly, lysosomal dysfunction has been linked to neurodegeneration and particularly to …
Less than a quarter century after the discovery of SNCA as the first attributable gene in Parkinson's disease (PD), our knowledge of the genetic architecture underlying this disease …