نتایج جستجو برای: neuroaxonal dystrophy
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In developing the PLAN, WPI sought to address concerns inherent to its then traditional curriculum that was rigid, unresponsive to differences among students, and was compartmentalized by independent departments so that intellectual growth was fragmented. The PLAN was an entirely new and different educational program responsive to the needs of students and society while nurruring sensitivity to...
In Drosophila, the store-operated Ca2+ channel, TRP, is required in photoreceptor cells for a sustained response to light. Here, we show that TRP forms a complex with phospholipase C-beta (NORPA), rhodopsin (RH1), calmodulin, and the PDZ domain containing protein INAD. Proteins with PDZ domains have previously been shown to cluster ion channels in vitro. We show that in InaD mutant flies, TRP i...
Chunks are a programming construct in PLAN, the Packet Language for Active Networks, comprised of a code segment and a suspended function call. In PLAN, chunks provide support for encapsulation and other packet programming techniques. This paper begins by explaining the semantics and implementation of chunks. We proceed, using several PLAN source code examples, to demonstrate the usefulness of ...
Infantile neuroaxonal dystrophy (INAD) is a progressive, autosomal recessive neurodegenerative disease characterized by axonal dystrophy, abnormal iron deposition and cerebellar atrophy. This disease was recently mapped to PLA2G6, which encodes group VI Ca(2+)-independent phospholipase A(2) (iPLA(2) or iPLA(2)β). Here we show that genetic ablation of PLA2G6 in mice (iPLA(2)β(-/-)) leads to the ...
BACKGROUND Mutations in the PLA2G6 gene have been identified in autosomal recessive neurodegenerative diseases classified as infantile neuroaxonal dystrophy (INAD), neurodegeneration with brain iron accumulation (NBIA), and dystonia-parkinsonism. These clinical syndromes display two significantly different disease phenotypes. NBIA and INAD are very similar, involving widespread neurodegeneratio...
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