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

Related publications (41)

Longitudinal changes in MEG-based brain network topology of ALS patients with cognitive/behavioral impairment—An exploratory study

Amyotrophic lateral sclerosis (ALS) with only motor impairment (ALS-pure motor) and the behavioral variant of frontotemporal dementia (bvFTD) are hypothesized to represent extreme ends of a disease spectrum, which encompasses ALS with cognitive/behavioral ...

MIT Press2025

Ultrastructural characterization of tau pathology in the human post‐mortem Alzheimer’s disease brain

Louis Travers, Philippine Laure Diane Schneider, Eglantine Vialaneix, Henning Paul-Julius Stahlberg, Amanda Jennifer Lewis

Neuropathological tau tangles in Alzerheimer’s disease (AD) have been roughly characterized into pre‐tangles, mature tangles and ghost tangles. However, to date, their maturation in the human brain is poorly understood. Here, we aimed to define the structu ...

Wiley2024

Large-scale in-silico analysis of CSF dynamics within the subarachnoid space of the optic nerve

Gilles Fourestey

BackgroundImpaired cerebrospinal fluid (CSF) dynamics is involved in the pathophysiology of neurodegenerative diseases of the central nervous system and the optic nerve (ON), including Alzheimer's and Parkinson's disease, as well as frontotemporal dementia ...

BMC2024

Improved MR Detection of Optic Nerve Demyelination With MP2RAGE-FLAWS Compared With T2-Weighted Fat-Saturated Sequences

Tobias Kober

Objectives: Nonenhanced T1-w sequences such as magnetization-prepared 2 rapid acquisition gradient echo (MP2RAGE) and derived fluid and white matter suppression (FLAWS) have demonstrated high performance for detecting brain parenchymal and cervical spine d ...

2024

O-GlcNAc forces an α-synuclein amyloid strain with notably diminished seeding and pathology

Hilal Lashuel, Yllza Jasiqi

Amyloid-forming proteins such alpha-synuclein and tau, which are implicated in Alzheimer's and Parkinson's disease, can form different fibril structures or strains with distinct toxic properties, seeding activities and pathology. Understanding the determin ...

Nature Portfolio2024

Distinct ultrastructural phenotypes of glial and neuronal alpha-synuclein inclusions in multiple system atrophy

Henning Paul-Julius Stahlberg, Marta Di Fabrizio, Amanda Jennifer Lewis, Domenic Burger

Multiple System Atrophy is characterized pathologically by the accumulation of alpha-synuclein (aSyn) into glial cytoplasmic inclusions (GCIs). The mechanism underlying the formation of GCIs is not well understood. In this study, correlative light and elec ...

2024

Brain matters: unveiling the distinct contributions of region, age, and sex to glia diversity and CNS function

Gioele La Manno, Zahra Moslehi

The myelinated white matter tracts of the central nervous system (CNS) are essential for fast transmission of electrical impulses and are often differentially affected in human neurodegenerative diseases across CNS region, age and sex. We hypothesize that ...

BMC2023

Brain mitochondrial diversity and network organization predict anxiety-like behavior in male mice

Maria del Carmen Sandi Perez

The brain and behavior are under energetic constraints, limited by mitochondrial energy transformation capacity. However, the mitochondria-behavior relationship has not been systematically studied at a brain-wide scale. Here we examined the association bet ...

Nature Research2023

Digital reconstruction of the mammalian spinal cord: from anatomical reference volume to cell type atlas of the mouse spinal cord

Ihor Kuras

The spinal cord is an elongated nervous structure that together with the brain forms the central nervous system. It relays sensory and motor information between the brain and the body, thus controlling most somatic and autonomic body functions. In recent y ...

EPFL2023

Loss of Motor Cortical Inputs to the Red Nucleus after CNS Disorders in Nonhuman Primates

Simon Borgognon

The premotor (PM) and primary motor (M1) cortical areas broadcast voluntary motor commands through multiple neuronal pathways, including the corticorubral projection that reaches the red nucleus (RN). However, the respective contribution of M1 and PM to co ...

SOC NEUROSCIENCE2023

Overexpression of human alpha-Synuclein leads to dysregulated microbiome/metabolites with ageing in a rat model of Parkinson disease

Joan Romani Aumedes, Hilal Lashuel, Yogesh Singh Chauhan, Florian Lang

Background Braak's hypothesis states that sporadic Parkinson's disease (PD) follows a specific progression of pathology from the peripheral to the central nervous system, and this progression can be monitored by detecting the accumulation of alpha-Synuclei ...

BMC2023

Comprehensive proteomic analysis of JC polyomavirus-infected human astrocytes and their extracellular vesicles

Alexey Sapozhnik

JC polyomavirus (JCPyV) is an opportunistic virus that remains in a latent state in the kidneys and lymphoid organs of more than half of the human adult population. In rare cases of severe immune suppression, the virus is able to establish a lytic infectio ...

Amer Soc Microbiology2023

Deconstructing and Reconstructing the Complexity of Tau pathology

Galina Limorenko

This thesis consists of four Chapters unified by a singular theme â how do we develop disease models that faithfully reproduce the pathology seen in patients suffering from neurodegenerative disorders associated with the Tau protein, such as Alzheimerâ ...

EPFL2023

Pathological substrate of memory impairment in multiple system atrophy

Hilal Lashuel, Melek Firat Altay

Aims: Synaptic dysfunction in Parkinson's disease is caused by propagation of pathogenic alpha-synuclein between neurons. Previously, in multiple system atrophy (MSA), pathologically characterised by ectopic deposition of abnormal alpha-synuclein predomina ...

WILEY2022

Elezanumab, a human anti-RGMa monoclonal antibody, promotes neuroprotection, neuroplasticity, and neurorecovery following a thoracic hemicompression spinal cord injury in non-human primates

Grégoire Courtine, Quentin Barraud

Spinal cord injury (SCI) is a devastating condition characterized by loss of function, secondary to damaged spinal neurons, disrupted axonal connections, and myelin loss. Spontaneous recovery is limited, and there are no approved pharmaceutical treatments ...

2021

Opportunities and challenges of alpha-synuclein as a potential biomarker for Parkinson's disease and other synucleinopathies

Hilal Lashuel, Pedro José Santana Ribeiro Magalhães

Parkinson's disease (PD), the second most common progressive neurodegenerative disease, develops and progresses for 10-15 years before the clinical diagnostic symptoms of the disease are manifested. Furthermore, several aspects of PD pathology overlap with ...

NATURE PORTFOLIO2022

Tau seeds from patients induce progressive supranuclear palsy pathology and symptoms in primates

Grégoire Courtine, Tomislav Milekovic, Flavio Raschella

Progressive supranuclear palsy is a primary tauopathy affecting both neurons and glia and is responsible for both motor and cognitive symptoms. Recently, it has been suggested that progressive supranuclear palsy tauopathy may spread in the brain from cell ...

OXFORD UNIV PRESS2022

Structural architecture of the Neuronal-Glial-Vascular system

Eleftherios Zisis

Brain functionality relies on the neuronal-glial-vascular (NGV) ensemble for energy support. However, the details of the complex biological mechanisms involved in these processes and the microscopic interactions between these three components are not yet f ...

EPFL2021

Capturing the heterogeneity of alpha-synuclein pathology in synucleinopathies

Melek Firat Altay

Synucleinopathies such as Parkinson's disease, dementia with Lewy bodies and multiple system atrophy (MSA) are detrimental neurodegenerative diseases. Alpha-synuclein (aSyn), the main aggregating protein found in the pathological inclusions of these ailmen ...

EPFL2022

Reverse engineering Lewy bodies: how far have we come and how far can we go?

Hilal Lashuel, Somanath Jagannath, Mohamed Bilal Fares

Lewy bodies (LBs) are α-synuclein (α-syn)-rich intracellular inclusions that are an important pathological hallmark of Parkinson disease and several other neurodegenerative diseases. Increasing evidence suggests that the aggregation of α-syn has a central ...

2021