15 research outputs found
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and animal models that can be used to understand the underlying molecular pathology. Recently, there has been a surge of interest in the use of patient-derived cells, due to the development of induced pluripotent stem cells and their subsequent differentiation into neurons and glia. Access to patient cell lines carrying the relevant mutations is a limiting factor for many centres wishing to pursue this research. We have therefore generated an open-access collection of fibroblast lines from patients carrying mutations linked to neurological disease. These cell lines have been deposited in the National Institute for Neurological Disorders and Stroke (NINDS) Repository at the Coriell Institute for Medical Research and can be requested by any research group for use in in vitro disease modelling. There are currently 71 mutation-defined cell lines available for request from a wide range of neurological disorders and this collection will be continually expanded. This represents a significant resource that will advance the use of patient cells as disease models by the scientific community
H1N1 Triggered Recurrent Acute Necrotizing Encephalopathy in a Family with a T653I Mutation in the RANBP2 Gene.
A 28-month old infant presented with fever, vomiting and encephalopathy. MRI findings and family history confirmed a diagnosis of recurrent familial acute necrotizing encephalopathy (ANE1). We believe that this is the first description implicating the H1N1 viral strain as a trigger and the second report of a T653I mutation in the RANBP2 gene described in relation to ANE1
Analysis of Parkinson's disease brainâderived DNA for alphaâsynuclein coding somatic mutations
Although alpha-synuclein (SNCA) is crucial to the pathogenesis of Parkinson's disease (PD) and dementia with Lewy bodies (DLB), mutations in the gene appear to be rare. We have recently hypothesized that somatic mutations in early development could contribute to PD
Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research
Our understanding of the molecular mechanisms of many neurological disorders has been greatly enhanced by the
discovery of mutations in genes linked to familial forms of these diseases. These have facilitated the generation of cell and
animal models that can be used to understand the underlying molecular pathology. Recently, there has been a surge of
interest in the use of patient-derived cells, due to the development of induced pluripotent stem cells and their subsequent
differentiation into neurons and glia. Access to patient cell lines carrying the relevant mutations is a limiting factor for many
centres wishing to pursue this research. We have therefore generated an open-access collection of fibroblast lines from
patients carrying mutations linked to neurological disease. These cell lines have been deposited in the National Institute for
Neurological Disorders and Stroke (NINDS) Repository at the Coriell Institute for Medical Research and can be requested by
any research group for use in in vitro disease modelling. There are currently 71 mutation-defined cell lines available for
request from a wide range of neurological disorders and this collection will be continually expanded. This represents a
significant resource that will advance the use of patient cells as disease models by the scientific community