Publications related to Gaucher's disease

Simulating the progression of brain structural alterations in Parkinson's disease

Considering brain structural alterations as neurodegenerative consequences of Parkinson's disease (PD), we sought to infer the progression of PD via the ordering of brain structural alterations from cross-sectional MRI observations. Having measured cortica ...

NATURE PORTFOLIO2022

Blood Flow to the Spleen is Altered in a Mouse Model of Spinal Muscular Atrophy

Bernard Schneider

Spinal muscular atrophy (SMA) is a neuromuscular disorder affecting young children. While pre-clinical models of SMA show small spleens, the same is not true in humans. Here, we show by doppler ultrasonography decreased splenic blood flow in Smn(2B/-) mice ...

2020

Serum GFAP in multiple sclerosis: correlation with disease type and MRI markers of disease severity

Tobias Kober, Bénédicte Marie Maréchal, Mario Joao Fartaria de Oliveira, Ricardo Alberto Corredor Jerez

Neurofilament light chain (NfL) has been demonstrated to correlate with multiple sclerosis disease severity as well as treatment response. Nevertheless, additional serum biomarkers are still needed to better differentiate disease activity from disease prog ...

Nature Research2020

Metabolic rescue of muscle and muscle stem cells in muscle disease

Peiling Luan

Duchenne muscular dystrophy (DMD), caused by the mutation of dystrophin gene, is an X-linked disorder that affects 1 in 3500 males, leading to progressive muscle degeneration and eventually resulting in premature death. Increasing evidence indicates that D ...

EPFL2020

Imaging liver and brain glycogen metabolism at the nanometer scale

Anders Meibom, Graham Knott, Arnaud Comment, Stéphane Laurent Escrig, Yuhei Takado, Mojgan Masoodi

In mammals, glycogen synthesis and degradation are dynamic processes regulating blood and cerebral glucose-levels within a well-defined physiological range. Despite the essential role of glycogen in hepatic and cerebral metabolism, its spatiotemporal distr ...

Elsevier Science Bv2015

Spatially-Resolved Eigenmode Decomposition of Red Blood Cells Membrane Fluctuations Questions the Role of ATP in Flickering

Pierre Magistretti, Dimitri Nestor Alice Van De Ville, Christian Depeursinge, Benjamin Rappaz, Pierre Marquet, Daniel Boss, Annick Hoffmann

Red blood cells (RBCs) present unique reversible shape deformability, essential for both function and survival, resulting notably in cell membrane fluctuations (CMF). These CMF have been subject of many studies in order to obtain a better understanding of ...

Public Library Science2012

Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels

Jörg Hülsken

Genetic and chemically induced neuronopathic mouse models of Gaucher disease were developed to facilitate understanding of the reversibility and/or progression of CNS involvement. The lethality of the skin permeability barrier defect of the complete gene k ...

2008