Term
| Direction of DNA replicaion |
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Definition
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Term
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Definition
Prok only
elongates leading and lagging strands by adding deoxynucleotides to the 3' end (5' -> 3' synthesis)
Has 3'-> 5' exonuclease/proofreading capability |
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Term
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Definition
prok only
degrades RNA primers and fills in the gaps w/ DNA 5' -> 3' exonuclease |
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Term
| problem in xeroderma pigmentosum |
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Definition
| nucleotide excision repair |
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Term
| Direction of mRNA reading |
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Definition
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Term
| Where Transcription factors bind |
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Definition
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Term
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Definition
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Term
| where silencers and enhancers are located in relation to the gene |
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Definition
| anywhere: close to, far way or w/i a gene |
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Term
| Types of RNA polymerase in euks |
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Definition
RNA pol I- makes rRNA
RNA pol II- makes mRNA
RNA pol III- makes tRNA |
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Term
| where RNApol binds tin initiate transcription |
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Definition
| promoter- TATA or CAAT boxes |
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Term
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Definition
| make up the spliceosome and carry out splicing of introns |
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Term
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Definition
| bind the 30S subunit and inhibit the attachement of aminoacyl-tRNA |
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Term
| Catalyzes the peptide bond formation and moves the growing chain from the tRNA in the P site to the A site |
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Definition
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Term
| binds to the 50S subunit and prevents translocation |
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Definition
| Clindamycin and Macrolides |
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Term
| inhibits 50S peptidyltransferase |
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Definition
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Term
| inhibits the formation of the initiation complex |
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Definition
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Term
| Inhibit G1 -> S progression |
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Definition
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Term
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Definition
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Term
| Targets proteins to lysosome |
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Definition
| mannose-6-phosphate residue |
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Term
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Definition
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Term
| aa to which O-oligosaccharides are attahced |
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Definition
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Term
| aa to which N-oligosaccharides are attahced |
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Definition
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Term
coarse facial features
restricted joint movements
clouded corneas
high plasma lysosomal enzyme levels |
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Definition
I cell dz
failure to add mannose-6-phospate to lysosomal enzymes so they are secreted from cells rather than targeted to lysosomes |
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Term
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Definition
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Term
| anterograde motor protein |
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Definition
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Term
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Definition
1. mebendazole/thiabendazole (anti-helminth)
2. griseofulvin (anti-fungal)
3. vincristine/vinblastine (anti-cancer)
4. paclitaxel (anti-breast cancer)
5. colchicine (anti-gout) |
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Term
| cytoskeletal elements involved in muscle contraction, microvilli, tight jxns |
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Definition
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Term
| drug that inhibits Na/K ATPase by binding the the K+ binding site |
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Definition
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Term
| Flat facies, prominent epicanthal folds, simian crease |
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Definition
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Term
| microagnathia and clenched hands |
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Definition
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Term
| Cleft lip/palate, holoprosencephaly, polydactyly |
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Definition
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Term
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Definition
B1
In thiamine pyrophosphate (TPP)
Cofactor for: pyruvate dehydrogenase, AKG dehydrog, transketolase (HMP shunt), branched chain AA dehydrog. |
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Term
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Definition
B2
cofactor in FADH2 and FMN for oxidation and reduction rxns
dificieny results in chelosis and corneal vascularization |
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Term
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Definition
B3
Part of NAD and NADP (redox rxns) derived from tryptophan and requires B6 for synthesis
deficiency causes glossitis, can lead to pellagra (which can be caused by Hartnup's dz, malignant carcinoid syndrome and INH) |
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Term
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Definition
B5
component of CoA for acyl transfers
deficiency causes dermititis, enteritis, allopecia and adrenal insufficiency |
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Term
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Definition
B6
Part of pyrodoxal phosphate which is needed for transamination, decarboxylation, glycogen phosphorylase, and heme synthesis.
Also required for niacin (B3) production from tryptophan
deficiency causes convulsions, hyperirritability, peripheral neuroathy |
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Term
| drugs causing B6 deficiency |
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Definition
OCPs and INH
Will B3 deficiency |
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Term
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Definition
Needed for carboxylation rxns
Pyruvat carboxylase allows progression of TCA
Acetyl-CoA carboxylation allows for oxidation of FA
Propinoyl-CoA allows for the connection of FA oxydation to the TCA cycle |
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Term
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Definition
needed for:
1. needed for hydroxylation in collagen synthesis
2. needed for B-hydroxylase of dopamine to NE
3. keeps Fe in +2 valence state |
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Term
| Vitamine needed to protect erythrocytes from free radical damage |
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Definition
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Term
| Excess Ile, Leu and Val in blood |
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Definition
Maple Syrup urine dz
inability to degrade branched amino acids b/c of no alpha-ketoacid dehydrogenase |
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Term
| Sever combined Immune difficiency |
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Definition
| Adenine deaminase difficiency causes a defect in DNA synthesis which lowers lymphocyte count |
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Term
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Definition
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Term
| diffeciency in Glucose-6-phosphatase |
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Definition
Von Girke's Dz/Type I glycogen storage dz
severe fasting hypoglycemia
↑↑ glycogen in liver
↑ blood lactate levels
Hepatomegally |
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Term
Deficiency in lysosomal α-1,4-glucosidase
(acid maltase) |
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Definition
Pompe's Dz/Type II glycogen storage dz
cardiomegaly and systemic findings leading to an early death |
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Term
Deficiency in debranching enzyme/ α-1,4-glucosidase
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Definition
Cori's Dz/Type III glycogen storage dz
milder for of Von Girke's w/ normal blood lactate levels
Gluconeogenesis is in tact |
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Term
| Deficiency in skeletal muscle glycogen phosphorylase |
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Definition
McArdle's Dz/Type V glycogen storage dz
↑ glycogen in muscle, but cannot break it down leading to painful muscle cramps and myoglobinuria w/ strenuous exercise
Impaired energy production |
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Term
| Cherry Red spot on Macula |
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Definition
| Tay Sach's or Niemann-Pick |
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Term
| Accumulation of ceramide trihexoside |
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Definition
| Fabry's dz (lysosomal storage dz) |
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Term
| accumulation of glucocerebroside |
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Definition
Gaucher's Dz (MC Lysosomal storage dz)
Sphingolipidosis |
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Term
| Only lysosomal storage dzs w/ non-Auto-recessive MOI |
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Definition
Fabry's Dz (sphingolipidosis) - X-linked recessive
Hunter's Dz (muccopolysaccharidosis) - X-linked recessive |
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Term
| accumulation of sphingomyelin |
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Definition
Niemann-Pick Dz
Lysosomal Storage dz- Sphingolipidosis |
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Term
Accumulation of GM2 Ganglioside
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Definition
Tay Sach's Dz
Lysosomal Storage Dz- sphingolipidosis |
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Term
| accumulation of galactocerebroside |
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Definition
Krabbe's Dz
Lysosomal storage dz- sphingolipidosis |
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Term
| Accumulation of Cerebroside sulfate |
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Definition
Metachromatic leukodystrophy
Lysosomal storage dz- phospholipidosis |
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Term
| Accumulation of heparan sulfate and dermatan sulfate |
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Definition
Hurler's Syndrome or Hunter's syndrome
lysosomal storage dz- mucopolysaccharidosis
Diff b/w Huler's and Hunters:
Hunter's is more mild and does not cause corneal clouding, but it does have more aggressive behavior
Also, Hunter's syndrome is X-linked recessive |
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Term
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Definition
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Term
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Definition
Binds to LDL receptor
Mediates VLDL secretion |
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Term
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Definition
| Cofactor for lipoprotein lipase |
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Term
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Definition
| Mediates Chylomicron secretion |
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Term
| Apolipoproteins E-3 and E-4 |
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Definition
| mediates chylomicron remnant uptake |
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Term
| Apolipoproteins on Chylomicrons |
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Definition
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Term
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Definition
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Term
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Definition
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Term
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Definition
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Term
| Lipoprotein lipase deficiency |
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Definition
Type I Familial Dyslipidemia -hyperchylomicronemia
Elevated blood TG and Cholesterol |
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Term
| Altered Apolipoprotein C-II |
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Definition
Type I familial dyslipidemia- Hyperchylomicronemia
elevated blood TGs and Cholesterol |
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Term
| Absent or decreased LDL receptors |
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Definition
Type IIa familial dyslipidemia- familial hypercholesterolemia
Elevated Blood cholesterol levels |
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Term
| Hepatic overproduction of VLDL |
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Definition
Type IV familial dyslipidemia- hypertriglyceridemia
Elevated blood levels of TG |
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Term
hereditary inability to synthesize lipoproteins due to deficiencies in ApoB-100 or ApoB-48
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Definition
Abeta-lipoproteinemia
findings: FTT, steatorrhea, acanthocytosis, ataxia, night blindness |
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Term
| FTT, steatorrhea, acanthocytosis, ataxia, night blindness |
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Definition
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Term
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Definition
Tangier's Dz
inability for cells to excrete cholesterol
Low HDL and cholesterol collection in cells |
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Term
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Definition
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Term
| Diff b/w Orotic Aciduria and Ornithine Transcarbamoylase Deficiency |
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Definition
Orotic Adicuria: ↑ Orotic acid in urine (and megaloblastic anemia that doesn't improve w/ b12 or folic acid + FTT) and NO hyperammonemia
OTC deficiency: ↑ Orotic acid in urine + hyperammonemia |
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Term
| Loss of amino acids in urine |
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Definition
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Term
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Definition
low B3/Niacin.
Caused by Hartnup dz b/c Niacin is derived from tryptophan |
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