Neuroscience

Retinal pigment epithelium-specific 65 kDa protein (RPE65) is an essential vision protein, and so mutations in the RPE65 gene cause blindness. However, clinical trials using gene therapy to treat patients with a defective RPE65 gene suggest that some vision may be restored.

There are two opposing sides to the controversial cysteine/glutamate antiporter. On one hand, it can be viewed a guardian of the cell, protecting it from the damaging oxidative stress that can cause cell death and even cancer. But, conversely, it has a dark side, actually facilitating cancer in a number of ways.

Caspase 9 (also termed ICE-LAP6, Mch6, Apaf-3) is a member of cysteine protease family of caspases and is encoded by the CASP9 gene in humans. Caspase-9 is involved in mitochondrial apoptosis pathway and is an initiator caspase.

Caspase 7 (also known as CASP7, Mch3, ICE-LAP3, CMH-1) is a member of caspase family of cysteine proteases. It is an apoptosis-related cystein peptidase encoded by the CASP7 gene in humans. CASP7 homologous sequences have been identified in nearly all mammals. Similar to Caspase 3, Caspase-7 is an effector caspase and plays a key role in apoptotic execution.

Growth Associated Protein 43 (GAP43), also termed B-50, F1 or P-57, is a neuron-specific cytoplasmic protein encoded by the GAP-43 gene in humans. The expression of GAP 43 is associated with neural development and synaptic plasticity. A high level of GAP43 expression is observed in neuronal growth cones during development, at axonal regeneration after injury and is phosphorylated after long-term potentiation (1).

CDR2 is a tumor antigen expressed in a high percentage of breast and ovarian tumors and is the target of a naturally occurring tumor immune response in patients with paraneoplastic cerebellar degeneration.

SOX2 is a transcription factor that is expressed by self-renewing and multipotent stem cells of the embryonic neuroepithelium. Sox-2 was found to be expressed by dividing neural progenitor cells. Constitutive expression of SOX2 has also been shown to inhibit neuronal differentiation and results in the maintenance of progenitor characteristics.

A major histopathological hallmark of Alzheimer's disease (AD) is the presence of amyloid deposits in the parenchyma of the amygdala, hippocampus, and neocortex. The principal component of amyloid is beta amyloid (AB). The pathologic accumulation of AB in plaques is postulated to result from an imbalance between production and clearance during aging.

Encoded by the VMD2 gene on chromosome 11q13 Bestrophin 1 is the prototypic member of the RFP family of proteins which are more commonly called "bestrophins". The protein family was originally identified in Caenorhabditis elegans based on a conserved amino acid motifs Arg-Phe-Pro (RFP). In humans there are four members of the bestrophin family numbered sequentially BEST1, BEST2, BEST3 and BEST4.

Amyloid beta (AB) peptide has a central role in the neurodegeneration of Alzheimer's disease (AD). Immunization of AD transgenic mice with AB_-42 peptide reduces both the spatial memory impairments and AD-like neuropathologic changes.