Antibodies

The NUT gene is found on chromosome 15q14 and encodes for the NUT protein which is a key component of the RNA polymerase II Mediator complex. This multi-subunit assembly is required for all RNA pol II-dependent transcriptional activation, coordinating both nuclear and mitochondrial gene transcription. The complex also includes pol II, and transcription factors TFIIA-F. It serves as a central scaffold within the pre-initiation complex (PIC) responsible for converting biological stimuli (in the form of transcription factors) into gene expression responses.

Neurofibromatosis (NF) is a genetic disorder caused by mutations in the NF1, NF2 or SMARCB1 genes which lead to tumor growth on nerves throughout the body. Although the tumors are usually benign, they still require chemotherapy to shrink and may become cancerous. Surgery is often attempted as treatment, however tumor placement on sensitive areas such as spinal cord and optic nerve make this option more difficult.

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The NALP family consists of cytoplasmic proteins within the larger CATERPILLER protein family. There exist in short forms (such as NALP4) and long forms (NALP1). NALP proteins include the apoptosis regulator apoptotic protease activating factor 1 (APAF1) and mammalian NOD-LRR proteins, and are thought to play a role in the inflammation and reproduction processes.

The innate immune system is responsible for reacting to viral infections through recognition of various viral components. Like toll-like receptor 3 (TLR3), MDA5 recognizes double-stranded (ds) RNA which is a molecular pattern indicative of viral infection. MDA5 and its relative RIG-1 recognize different types of dsRNA, with MDA5 recognizing poly (I:C). MDA5 is a member of the DEAD/DEAH-box RNA helicase family, which all contain the conserved DEAD motif of Asp-Glu-Ala-Asp.

Mannose 6 phosphate (M6P) is a sequence tag that plays a pivotal role in transporting proteins from the Golgi complex and cell surface to the lysosome. The M6P sequence is tagged to the N-linked oligosaccharides of lysosomal hydrolases as they traverse the cis-Golgi apparatus. Upon M6P-tagging, these proteins are targeted to the late endosome via vesicular transport. Low pH conditions there mediate the dissociation of a M6P Receptor from its ligand, allowing recycling of the M6P sequences.

Nitric oxide (NO) is an inorganic, gaseous, and reactive free radical that acts as a biologic mediator in processes such as neurotransmission, vasorelaxation, and cytotoxicity. In addition, it has antimicrobial and anti-tumoral activities. NO production is mediated by members of the nitric oxide synthase (NOS) family. The NOS enzyme catalyzes the oxidization of L-arginine into L-citrulline and NO.  Several subtypes have been identified: two constitutive isoforms (type I brain/neuronal NOS, and type III endothelial) and one inducible isoform (iNOS, or type II).

IL-6 is an immunoregulatory cytokine that functions in inflammation and B-cell maturation. It was originally identified as a B-cell differentiation factor. It is primarily made at sites of acute and chronic inflammation, where it is secreted into serum and induces a transcriptional inflammatory response through the cell surface assembly of interleukin-6 alpha receptor (IL-6R, alpha) and the signaling receptor gp130.

The ATP-binding cassette transporter A1 (ABCA1) protein is a key gatekeeper for regulating intracellular cholesterol transport. It is one member of a large family of genes comprised of cAMP-dependent anion transporter cell membrane proteins. These important proteins regulate reverse cholesterol efflux from cells into the peripheral tissues via apolipoprotein A-1 (apo). ABCA1 in particular has a diverse expression profile and is most highly expressed in macrophages.

The protein CD11b has been implicated in the various adhesion-related interactions of cells such as monocytes, macrophages, natural killer (NK) cells, and granulocytes. It is part of a heterodimer that consists of CD11b and CD18. It also modulates the uptake of complement-coated particles within the cell. It is commonly used as a microglial marker in tissues derived from the nervous system.

Amyotrophic lateral sclerosis is a neurological disease which impacts motor neurons that are involved in muscle movement throughout the body. The progressive degeneration of neurons causes weakened muscles and can lead to paralysis. There is no cure for ALS, but riluzole has been used to help with the damage to the motor neurons.

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