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60 Cards in this Set

  • Front
  • Back
deficiency leads to accumulation of carbamoyl phosphate
ornithine transcarbamoylase
megaloblastic anemia that does not improve w/ B12 or folic acid
orotic aciduria
antibodies to sliceosomal snRNPs
lupus
which cyclin complex breaks down nuclear envelope
cyclin B - CDK1 (activated by cdc 25)
which cyclin complex releases Rb from E2F?
cyclin D - CDK4
which cyclin complex allows progression to mitotic prophase?
cyclin A - CDK1
which cyclin complex allows progression to S phase
cyclin E - CDK2
coarse facial features, clouded corneas, restricted joint movement
I cell disease
pathogenesis of Chediak Higashi
MT polymerization defect: decreased phagocytosis
role of axonemal dynein
ATPase: links peripheral 9 doublets --> bends cilium
GFAP stains
neuroglia
elastin is rich in what 2 Aas
proline, glycin
role of fibrillin
forms sheath of microfibrils surrounding elastin
deletion of VHL gene results in what
constitutive expression of HIF (a TF) and activation of angiogenic GFs
type of mutation in Duchenne's
frameshift --> deletion of dystrophin gene
type of mutation Fragile X syndrome
affects methylation + expression of FMR1
role of FMRP protein
in brain and testes: mRNA translation of axons + dendrites
repeat in Huntingtons
CAG
repeat in myotonic dystrophy
CTG
repeat in fragile X
CGG
repeat in Friedriech's ataxia
GAA
pregnancy quad screen for Down syndrome
decrease: AFP, estriol; increase: hCG, inhibin A
which chromosome pairs commonly invovled in Robertsonian translocation
13, 14, 15, 21, 22
what happens in Robertsonian translocation
long arms of 2 acrocentric centromeres fuse at centromere + 2 short arms are lost
pathogensis of Wilson's syndrome
microdeletion of long arm of Ch 7: elastin gene
elfin facies, MR, hyperCa2+, friendliness w/ strangers, CV problems
William's syndrome
what tract affected in Friedriech's ataxia
spinocerebellar
which vitamin used to treat measles
Vit A
which 4 enzymes is TPP a cofactor for?
pyruvate dehydrogenase, a ketoglutarate dehydrogenase, transketolase, branched chain AA dehydrogenase
what vitamin is required for synthesis of niacin?
vit B6
SAM is made of what?
ATP + methionine
what enzymes is B7 a cofactor for
carboxylation (pyruvate, AcetylCoA, proprionylCoA)
role of pyruvate carboxylase
pyruvate (3C) --> OAA (4C)
role of acetylCoA carboxylase
acetylCoA (2C) --> malonylCoA (3C)
role of proprionylCoA carboxylase
proprionylCoA (3C) --> methylmalonyl CoA (4C)
what vitamin faciliate iron absorption? How?
vit C: needs iron in reduced state
what vitamin excess is seen in sarcoidosis
D (increased activation by macrophages)
rate limiting step of FA synthesis
acetylCoA carboxylase
rate limiting step of FA oxidation
carnitine acyltransferase I
what carries aldehydes
TPP
what carries acyl
coenzyme A, lipoamide
control of PFK-1
(+) AMP, F26BP; (-) ATP, citrate
control of pyruvake kinase
(+) AMP; (-) ATP, alanine
control of pyruvate dehydrogenase
(-) ATP, AcetylCoA, NADH
5 cofactors involved in pyruvate dehydrogenase complex
TPP, FAD, NAD, CoA, lipoic acid
treatment for pyruvate dehydrogenase deficiency
ketogenic Aas: lysine, leucine
what does the TCA cycle produce?
3 NADH, 1 FADH2, 2 CO2, 1 GTP = 12 ATP
what antibiotic directly inhibits mitochondrial ATPase
oligomycin
ketogenic Aas
leucine, lysine
Aas required during growth
Arg, His
Aas on histones
Arg, Lys
excess ammonia depletes what?
alpha ketoglutarate
drugs for hyperammonia
benzoate, phenylbutyrate
role of homogentisic acid oxidase
breakdown of tyrosine to fumarate
branched amino acids
Ile, Leu, Val
role of AI lipoprotein
activates LCAT
B100
binds LDL receptor, mediates VLDL secretion
CII
activates lipoprotein lipase
B 48
mediates chylomicron secretion
apoprotein E
mediates extra remnant uptake