In Situ Detection of Inflammatory Mediators in Post Mortem Human Brain Tissue after Traumatic Injury

T Frugier, MC Morganti-Kossmann, D O'Reilly… - Journal of …, 2010 - liebertpub.com
Little is known about the molecular events following severe traumatic brain injury (TBI) in
humans and to date there are no efficient therapies for the treatment of patients. In this study, …

Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model

…, C Borra-Cebrian, C Panozzo, T Frugier… - Human molecular …, 2002 - academic.oup.com
Mutations of survival of the motor neuron gene ( SMN1 ) are responsible for spinal muscular
atrophy (SMA), a common genetic cause of death in childhood. The cellular mechanism by …

Deletion of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy

C Cifuentes-Diaz, T Frugier, FD Tiziano… - The Journal of cell …, 2001 - rupress.org
Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons of the
spinal cord associated with muscle paralysis and caused by mutations of the survival motor …

Gene targeting restricted to mouse striated muscle lineage

P Miniou, D Tiziano, T Frugier, N Roblot… - Nucleic acids …, 1999 - academic.oup.com
Spatially and temporally regulated somatic mutations can be achieved by using the Cre/LoxP
recombination system of bacteriophage P1. In order to develop gene knockouts restricted …

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

T Frugier, FD Tiziano, C Cifuentes-Diaz… - Human molecular …, 2000 - academic.oup.com
Deletion of the murine survival of motor neuron gene (SMN) exon 7, the most frequent mutation
found in spinal muscular atrophy (SMA) patients, directed to neurons but not to skeletal …

Biochemically-defined pools of amyloid-β in sporadic Alzheimer's disease: correlation with amyloid PET

BR Roberts, M Lind, AZ Wagen, A Rembach, T Frugier… - Brain, 2017 - academic.oup.com
We fractionated frontal cortical grey matter from human Alzheimer’s disease and control
subjects into four biochemically defined pools that represent four distinct compartments: soluble/…

[HTML][HTML] STING-mediated type-I interferons contribute to the neuroinflammatory process and detrimental effects following traumatic brain injury

A Abdullah, M Zhang, T Frugier, S Bedoui… - Journal of …, 2018 - Springer
Background Traumatic brain injury (TBI) represents a major cause of disability and death
worldwide with sustained neuroinflammation and autophagy dysfunction contributing to the …

[HTML][HTML] Activation of the kynurenine pathway and increased production of the excitotoxin quinolinic acid following traumatic brain injury in humans

EB Yan, T Frugier, CK Lim, B Heng… - Journal of …, 2015 - Springer
During inflammation, the kynurenine pathway (KP) metabolises the essential amino acid
tryptophan (TRP) potentially contributing to excitotoxicity via the release of quinolinic acid (QUIN…

Type‐1 interferons contribute to the neuroinflammatory response and disease progression of the MPTP mouse model of Parkinson's disease

BS Main, M Zhang, KM Brody, S Ayton, T Frugier… - Glia, 2016 - Wiley Online Library
Type‐1 interferons (IFNs) are pleiotropic cytokines with a critical role in the initiation and
regulation of the pro‐inflammatory response. However, the contribution of the type‐1 IFNs to …

A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c. 571+ 1G>> …

T Frugier, NL Mitchell, I Tammen, PJ Houweling… - Neurobiology of …, 2008 - Elsevier
Batten disease (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood
diseases that result in severe brain atrophy, blindness and seizures, leading to premature …