An essential function for NBS1 in the prevention of ataxia and cerebellar defects
Article Abstract:
A study demonstrates that inactivation of the Nbn gene (Nbs1) in mouse neural tissues results in a combination of the neurological anomalies characteristic of nijmegen breakage syndrome (NBS), ataxia telangiectasia and ataxia telangiectasia like disorder (ATLD), including microcephaly, growth retardation, cerebellar defects and ataxia. It provides insight into the physiological function of NBS1 and the function of the DNA damage response in these disorders.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2005
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Niemann-Pick type C disease involves disrupted neurosteroidogenesis and responds to allpregnanolone
Article Abstract:
Niemann-Pick type C (NP-C) disease is a fatal, autosomal recessive, childhood neurodegenerative disease and study shows that NP-C mouse brain contains substantially less neurosteroids and has an age-related decrease in ability to synthesize 5 alpha-dihydroprogesterone and allopregnanolone. This contributes to the pathology of NP-C and neurosteroid treatment may be useful in ameliorating progression of the disease.
Publication Name: Nature Medicine
Subject: Health
ISSN: 1078-8956
Year: 2004
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