Term
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CTNND2 gene codes for what molecule? |
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Definition
| For delta catenin - a cadherin cell adhesion molecule |
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Term
| SEMA5A gene for what molecule? And what does it do? |
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Definition
| Molecule = semaphorine F. Role: axon guidance through rgd |
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Term
| hTERT gene for what enzyme? |
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Definition
| for telomerase reverse transcriptase |
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Term
| What is located at 4p16.3? |
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Definition
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Term
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Definition
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Term
| What is the role of huntingtin? |
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Definition
| Protects cells against apoptosis |
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Term
| How is dysfunctional huntingtin produced? And what occurs with dysfunctional huntingtin? |
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Definition
| >35 CAG repeats; dysfunctional huntingtin accumulates & does not protect against apoptosis |
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Term
| What does therapeutic gene scFv for HTT do? |
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Definition
| Blocks HTT and prevents aggregation |
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Term
| What does therapeutic gene RCAN1-1L do? |
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Definition
| increased phosphorylation...? |
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Term
| What is the inheritance pattern for Wilson's Disease? |
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Definition
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Term
| What occurs with an ATP7B gene mutation? |
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Definition
| Dysfunctional transporter --> Wilson disease protein |
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Term
| Alzheimer's Disease causes degeneration in which part of the brain? |
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Definition
| Cortical degeneration, most pronounced in frontal, temporal, parietal lobes (with widening of the cerebral sulci). |
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Term
| How are amyloid plaques formed? |
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Definition
| Mutated APP gene products released from cells accumulate in brain forming clumps (plaques). |
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Term
| What part of the Amyloid Precursor Protein can aggregate and form fibrils? |
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Definition
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Term
| What APP cleavage pattern produces Aβ aggregates? |
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Definition
β-secretase cleavage followed by γ-secretase cleavage.
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Term
| Where does the APP mutation occur in the gene and what is the effect? |
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Definition
| Isoleucine replaces valine on residue 717 (protein becomes longer and stickier). |
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Term
|
Definition
| Unilateral pupil dilation. |
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Term
| Where are the APP gene and PSEN1 gene located? |
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Definition
APP - 21q21
PSEN1 - 14q24.3 |
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Term
| What does PSEN1 code for and what is the protein's role? |
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Definition
| PSEN1 codes for Presenillin 1 and it is part of the gamma-secretase complex. |
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Term
| What occurs with a mutation in PSEN1? |
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Definition
| Increase in production and accumulation of amyloid (most common cause of early-onset AD). |
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Term
| Trisomy 21 has what effect on APP gene? |
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Definition
| Gene dosage effect (Down's Syndrome patients in 40s and 50s particularly at risk for early onset AD). |
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Term
| What are the cytogenetics of GBM cancer? |
|
Definition
| Gain of Chr 7, loss of Chr 10. |
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Term
| EGFRvIII mutation is associated with what disease? |
|
Definition
| Glioblastoma Multiforme (GBM). |
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|
Term
What occurs with EGFRvIII mutation?
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|
Definition
| Receptor is constantly activated --> constant tyrosine kinase activation --> tumor growth |
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