EIF2B5 mutations comprise GFAP+ astrocyte generation in vanishing white matter leukodystrophy
Article Abstract:
Cell cultures from the brain of an individual with vanishing white matter (VWM) disease carrying mutations in subunit 5 of translational initiation factor 2B (eIF2B) (encoded by EIF2B5) are determined. RNAi targeting of EIF2B5 severely compromised the induction of GFAP-expression (GFAP+) cells from normal human glial progenitors showing that the deficiency in astrocyte function might contribute to the loss of white matter in VWM leukodystrophy.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2005
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In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice
Article Abstract:
Issues related to research on the central nervous system disease, metachromatic leukodystrophy, are examined, focusing on possibilities of in vivo gene therapy as a way to combat neuropathy. Topics include use of the human ARSA gene in the brain of adult mice and subsequent enzyme expression in the brain.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2001
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The challenge of private biomedical research funding in Italy
Article Abstract:
The author uses the example of Italy's San Raffaele Institute as one of few private hospital/biomedical research facilities which is independent in funding as well as in direction. They were one of the first to set up a scientific ethics committee, and to integrate research with clinical applications.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 1999
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