Flashcards in Final Deck (153):
In Alzheimers, Lewy Bodies are composed of what type of protein?
In Alzheimers, what are the plaques made of? The fibrils?
plaques = beta-amyloid
fibrils = Tau
In sickle cells anemia, what amino acid is mutated?
glutamate to Valine
What region of a protein do chaperones bind?
Scurvy features a defect in what protein?
What class of molecules feature an ether linkage between two components?
What receptor do alpha-neurotoxins target and destroy?
Atrial natriuretic peptide features what type of guanylate cyclase?
soluble guanylate cyclase
What G-protein does cholera toxin target? What modification does it add to these G-protein?
ADP-ribosylation (turn on)
What G-protein does pertussis target? What modification does it add to these G-protein?
ADP-ribosylation (turned off)
What toxin does yersenia pestis produce? What does this toxin do?
Pellagra features a defect in what product?
What is B5 known as?
What is the PDH inhibited by?
NADH, acetyl-CoA and citrate
Wernicke Korsakoff features a defect in what molecule?
What two enzymes require thiamine?
PDH and alpha-KG
What amino acid is mitated in MERRF?
Crigler-Najjar Syndrome (Gilbert Disease) features a defect in what protein?
FA degradation disorders present with what type of observation?
hypoglycemia and low ketone bodies
FA degradation requires what kind of bond?
alpha-oxidation degrades what kind of fatty acids?
acute fatty liver of pregnancy cant degrade what molecule?
long chain fatty acids
Refsum disease features defects in degrading what kind of molecule?
branched chain FAs
In the ER, what molecule is used as a donor for FA synthesis? Mitochondria?
What is the committed step in ketone body synthesis?
HMG CoA Lyase
Where does FA desaturation occur?
What is the reguated step of FA degradation?
PPAR activates genes required for what?
fatty acid oxidation and ketone
What is the committed step of FA synthesis?
What protein kinase activates HSL?
What is the function of DGAT?
to transfer a fatty acid to DAG
committed step of FA acid synthesis
Which side, cytosolic or luminal, are negatively charged compounds found?
What are leukotrienes synthesized from?
What composes lactoce?
glucose and galactose
What tissues participate in the glycerol phosphate shuttle?
muscle and brain
WHat tissues participate in the malate aspartate shuttle?
liver and heart
What is the most regulated enzyme of gluconeogenesis?
Arseate bypasses what enzyme of glycolysis?
What co-factor is required for the non-oxidative phase of the PPP?
What enzyme converts G6P to G1P?
What two receptors/enzymes of GNG do muscles lack?
glucagon receptor and G6Pase
Van Gierke defect?
Cori Disease defect?
Pompe disease defect?
McArdle disease defect?
Hunter syndrome defect?
Hurler syndrome defect?
San Filippo defect?
What sugars are attached to ceramide to form cerebroside?
glucose or galactose
What sugars are attached to ceramide to form globosides?
2-4 neutral sugars
What sugars are attached to ceramide to form gangliosides?
What enzyme is deficient in Gaucher's Disease?
What is the committed step of cholesterol synthesis?
HMG CoA Reductase
What is the first product committed to cholesterol synthesis?
Mevalonic Acid (Mevalonate)
What cofactor do all the aminotransferases have a requirement for?
pyridoxal phosphate (B6)
Serine Hydroxymethyltransferase catalyzes what reaction? What is produced?
Ser --> Gly
What enzyme is deficient in homocystinuria?
cystathione beta synthase
What enzyme is defective in familial hyperinsulinemic hypoglycemia? What is the defect?
glutamate is not inhibited by GTP
What cofactor does the glycine cleavage pathway produce?
What enzyme metabolizes Propionyl-CoA?
propionyl CoA Carboxylase
What is propionyl CoA eventually converted into?
What co-factor is required to convert Propionyl-CoA into Succinyl-CoA?
What is cofactor does methionine synthase produce?
What does methionine synthase convert into methionne?
What enzyme is defective in tyrosinemia II?
What enzyme is deficient in alkaptonuria?
What enzyme is deficient in tyrosinemia I?
What enzyme catalyzes the committed step of pyrimidine synthesis?
What enzyme is deficient in orototic aciduria?
UMP Synthase (OMP Decarboxylase and Orotate Phosphoribosyl Transferase)
What is broken down into beta-aminoisobutyrate?
What is broken down into beta-alanine?
all other pyrimidines
HGPRTase salvages what purines?
hypoxanthine and guanine
What enzymes salvages adenine?
What vitamin contains a series of unconjugated double bonds?
What lipid breakdown product is indicative of oxidative stress?
What protein controls G1/S?
What proteins controls S?
What protein controls G2/S?
What does Cdc25c activate?
What does Cdc25a activate?
What activates p53? What does p53 activate?
What does beta-catenin active?
Myc and Cyclin D
What oncogene is translocated in Burkitts Lymphoma?
c-Myc from chromosome 8 to chromosome 14
What does Mdm2 serve to do in regards to p53?
E3 ubiquitin ligase
What does NF1 function to do?
increase GTP hydrolysis of Ras
What chromosomal aberration is present in chronic myeloid leukemia?
What DNA polymerase contaisn exonuclease activity?
DNA polymerase delta
Defects in what process are inhibited in xeroderma pigmentosum?
nucleotide excision repair
What is cytarabine an analogue of?
WHat is cytarabine used to treat?
What is cyclophosphamide used to treat? What is the mechanism of action of cyclophosphamide?
DNA intercalating agent
What TFII contains helicase activity?
What does alpha-amanitin inhibit?
eukaryotic RNA Pol II
What signals SREBP1a to translocate to the nucleus?
low intracellular cholesterol levels
What is the mechanism of action of tetracycline?
inhibits tRNA from entering the A site
E2F can be inhibited by what toxin?
Myristoylation occurs on what residues?
Where are isoprenoids attached?
cyteines at C terminus
Where are palmitic acids attached?
cysteines throughout the protein
What residues signal long life of proteins? What residues singla short life of protein?
Ser or Met
short = Lys or Arg
Gain of function RET = ?
multiple endocrine neoplasia
Loss of function RET = ?
LHON affects what mitochondrial complex?
what proteins bring about de novo methylation of protein?
DNMT3a and DNMT3b
Beckwith-Wiedemann = ?
What protein is over-expressed in Beckwith-Wiedemann?
two copies of paternal 11
HDAC inhibitors treat?
chronic lymphocytic leukemia
DNMT inhibitor = ?
What does it treat?
acute myeloid leukemia
What do noggin/chordin do?
induce dorsal development
What is the function of HOX?
patterning along the anterior and posterior axis
What defects are seen with aberrant Shh signaling?
midface and forebrain
What is the function of Nodal?
left looping of the heart
What is the fuction of HOX11/13?
distal development of limbs
Smith Lemli Opitz syndrome affects the signaling of what molecule?
Hematochromatosis protects against?
CFTR protects against?
Where is HMG-CoA Lyase expressed?
liver and kidney
What does Phenylalanine Hydroxylase oxidize?
What kind of FAs get funneled to propionyl-CoA?
odd chain fatty acids
What is the early response gene? What does the early response gene transcribe?
Mid and Late G1 cyclins
What do CBP and EP300 function as?
Bcr-Abl fusion activates what?
soluble protein tyrosine kinase
What is Rituximab used to treat?
What drug is used to treat Hodgkins Lymphoma?
What enzyme converts hypoxanthine to xanthine?
What enzyme converts xanthine to uric acid?
What reaction does amidophosphoribosyltranse catalyze?
PRPP to PRA
What is the committed step of heme synthesis?
What does ribonucleotide reductase oxidize?
What enzyme does hydroxyurea inhibit?
What is the first enzyme involved in gluconeogenesis?
Sphingolipids are synthesized from what two molecules?
Palmitoyl-CoA and Serine
What does E2F active?
What inhibits p27-KIP1?
What does p27KIP-1 Inhibit?
What enzyme catalyzes R5P to PRPP?
What inhibits the PDH?
NADH, citrate and acetyl-CoA
Is the PDH active with it is phosphorylated or de-phosphorylated?
What reaction does phospho-mannoseisomerase catalyze?
F6P to M6P
What amino acid does arginosuccinate synthetase require?
What is the early response gene?
What enzyme is responsible for the salvage of pyrimidines? What pyrimidine is not salvaged?
What enzyme of the PDH contains thiamine?
What catalyzes the reaction of UTP to CTP?
What is the product of HMG-CoA Lyase?
What is the product of Acetyl-CoA Thiolase?
What is the final enzyme in ketone body synthesis?
Regarding the G2/M checkpoint, what protein can inhibit the action of Cdc25c?
What can ATM detect?
What activates BAX?
What does BAX activate?
What does cyt C activate?
What does APAF-1 activate?