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29 Cards in this Set

  • Front
  • Back
Frontotemporal Dementia with Parkinsonism
a mutation in exon 10 of the Tau microtubule associated protein gene which promotes a more stable protein. Mutant Tau form an abnormal filamentous structure in the brain of STDP-17 patients.
Becker Muscular Distrophy
- mutation in exon 27 of the dystrophin gene, which affects the protein and further muscle fiber formation
Spinal Muscular Atrophy
- a mutation in exon 7 of the SMN-1 gene leads to the decreased survival of motor neurons
Systemic Lupus Erythematusus
an autoimmune disease in which serum antibodies to U1 are formed. Blocks spicing
splicing defent in fibrillin – mutation that leads to defects in microfibils and elastic tissues surrounding the aorta
chain terminator that lacks 3’ OH
- intercalates between base pairs
actinomycin D
intercalates between two G-C base pairs in DNA so ineffective template
a- amanitin
mushroom toxin, potente inhibitor of RNA polymerase II
– inhibits bacterial RNAP’s, important in treatment of tuberculosis
Doxorubicin and Etoposide
- used to treat cancer, all of the above increase the rate that TopII cleaves the double stranded DNA, which overwhelms the cells ability to repair the damage
Norfloaxicin and Ciprofloxacin
- target bacterial topisomerase II
Xeroderma Pigmentosm
defect in the nucleotide excision repair mechanism for thymine dimers, rare 1000 cases world wise, wide range of symptoms, blindness, deafness, blistering, freckling, dwarfism, etc
– Hereditary Non-polyposis colorectal Carcinoma) 1.200 people defect in a gene for mismatch repair
Werner Syndrome
due to a defect in DNA helicase
Bloom Syndrome
( small body, sun sen, hypo or hyper pigmented lesions, immunodiffency, cancer, diabetes, lung) due to an abolition of Ligase I activity needed to complete DNA repair
Fanconis Anemia
Ataxia telangiectasa, Gardners Syndrome--- due to defects in Ligase activity
Breast Cancer
– some forms of breast cancer are due to defects in breast cancer susceptibility genes ( BRCA… they participate in DNA repair)
Li –Fraumeni
mutations in p53… lots of cancer 90%by age 70
Famililal Hyperproinsuliemia
abnormally processed insuling due to deficience in enzyme that process insulin. Afflicted individuals are normal in glucose metabolism
I- Cell Disease
lack of glycosyl transferase therefore can not properly target lysosomal enzymes
Type IV Ehlers - Danlos
caused by a deficency in lysyl hydroxylase
Streptomycin ( and otether aminoglycosides )
inhibit initiation and cause misreading of mRNA ( prokaryotes)
binds to the 30S subunit and inhibits binding of aa-tRNAs
Inhibits peptidyl transferase activity of the 50S ribosomal subunit
Inhibits the peptidyl transgerase activity of the 60S ribosomal subunit
binds to the 50S subunit and inhibits translocation
causes the premature chain termination by acting as an analog of aa tRNA
blocks eukaryotic translation by inhibiting translocation ; ADP reibsylation of EF2 - translocase