Final Flashcards
In Alzheimers, Lewy Bodies are composed of what type of protein?
alpha-synuclein
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?
hydrophobic
Scurvy features a defect in what protein?
hydroxyproline
What class of molecules feature an ether linkage between two components?
plasmalogens
What receptor do alpha-neurotoxins target and destroy?
NAchR
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?
Gs
ADP-ribosylation (turn on)
What G-protein does pertussis target? What modification does it add to these G-protein?
Gi
ADP-ribosylation (turned off)
What toxin does yersenia pestis produce? What does this toxin do?
YopH
tyrosine phosphatase
Pellagra features a defect in what product?
Niacin
What is B5 known as?
pantothenic acid
What is the PDH inhibited by?
NADH, acetyl-CoA and citrate
Wernicke Korsakoff features a defect in what molecule?
thiamine
What two enzymes require thiamine?
PDH and alpha-KG
What amino acid is mitated in MERRF?
lysine tRNA
Crigler-Najjar Syndrome (Gilbert Disease) features a defect in what protein?
glucoronosyltransferase
FA degradation disorders present with what type of observation?
hypoglycemia and low ketone bodies
FA degradation requires what kind of bond?
trans
alpha-oxidation degrades what kind of fatty acids?
branched chain
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?
malonyl-CoA
acetyl-CoA
What is the committed step in ketone body synthesis?
HMG CoA Lyase
Where does FA desaturation occur?
ER
What is the reguated step of FA degradation?
CPT-1
PPAR activates genes required for what?
fatty acid oxidation and ketone
What is the committed step of FA synthesis?
acetyl-CoA Carboxylase
What protein kinase activates HSL?
PKA
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?
cytosolic face
What are leukotrienes synthesized from?
arachidonic acid
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?
F16bPase
Arseate bypasses what enzyme of glycolysis?
GAPDH
What co-factor is required for the non-oxidative phase of the PPP?
thiamine
What enzyme converts G6P to G1P?
phosphoglucomutase
What two receptors/enzymes of GNG do muscles lack?
glucagon receptor and G6Pase
Van Gierke defect?
G6Pase
Cori Disease defect?
debranching enzyme
Pompe disease defect?
1,4-glucosidase
McArdle disease defect?
glycogen phosphorylase
Hunter syndrome defect?
Iduronate Sulfatase
Hurler syndrome defect?
a-Iduronase
San Filippo defect?
Heperan sulfate
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?
NANA
What enzyme is deficient in Gaucher’s Disease?
beta-glucosidase
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
THF
What enzyme is deficient in homocystinuria?
cystathione beta synthase
What enzyme is defective in familial hyperinsulinemic hypoglycemia? What is the defect?
glutamate dehydrogenase
glutamate is not inhibited by GTP
What cofactor does the glycine cleavage pathway produce?
N510 THF
What enzyme metabolizes Propionyl-CoA?
propionyl CoA Carboxylase
What is propionyl CoA eventually converted into?
succinyl CoA
What co-factor is required to convert Propionyl-CoA into Succinyl-CoA?
B12
What is cofactor does methionine synthase produce?
THF
What does methionine synthase convert into methionne?
homocysteine
What enzyme is defective in tyrosinemia II?
tyrosine aminotransferase
What enzyme is deficient in alkaptonuria?
homogentisate oxidase
What enzyme is deficient in tyrosinemia I?
fumarylacetoacetate hydrolase
What enzyme catalyzes the committed step of pyrimidine synthesis?
amidophosphoribosyltransferase
What enzyme is deficient in orototic aciduria?
UMP Synthase (OMP Decarboxylase and Orotate Phosphoribosyl Transferase)
What is broken down into beta-aminoisobutyrate?
dTMP
What is broken down into beta-alanine?
all other pyrimidines
HGPRTase salvages what purines?
hypoxanthine and guanine
What enzymes salvages adenine?
APRTase
What vitamin contains a series of unconjugated double bonds?
Vitamin A
What lipid breakdown product is indicative of oxidative stress?
malondialdehdye
What protein controls G1/S?
RB-E2F
What proteins controls S?
P27-KIP1
What protein controls G2/S?
Cdc25c
What does Cdc25c activate?
1-A/B
What does Cdc25a activate?
2-A/E
What activates p53? What does p53 activate?
ATM/ATR
p21-CIP1
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?
philadelphia chromosome
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?
cytosine
WHat is cytarabine used to treat?
acute leukemia
What is cyclophosphamide used to treat? What is the mechanism of action of cyclophosphamide?
Hodgkins lymphoma
DNA intercalating agent
What TFII contains helicase activity?
TFIIH
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?
diptheria
Myristoylation occurs on what residues?
N-terminal glycines
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 = ?
Hirchsprung Disease
LHON affects what mitochondrial complex?
complex I
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
IGFR2
HDAC inhibitors treat?
chronic lymphocytic leukemia
DNMT inhibitor = ?
What does it treat?
5-AZT
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?
Shh
Hematochromatosis protects against?
Plague
CFTR protects against?
typhoid
Where is HMG-CoA Lyase expressed?
liver and kidney
What does Phenylalanine Hydroxylase oxidize?
Tetrahydrobiopterin
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?
c-Fos
Mid and Late G1 cyclins
What do CBP and EP300 function as?
HAT
Bcr-Abl fusion activates what?
soluble protein tyrosine kinase
What is Rituximab used to treat?
non-Hodgkins Lymphoma
What drug is used to treat Hodgkins Lymphoma?
cyclophosphamide
What enzyme converts hypoxanthine to xanthine?
xanthine oxidase
What enzyme converts xanthine to uric acid?
xanthine oxidase
What reaction does amidophosphoribosyltranse catalyze?
PRPP to PRA
What is the committed step of heme synthesis?
ALA synthase
What does ribonucleotide reductase oxidize?
thioredoxin
What enzyme does hydroxyurea inhibit?
ribonucleotide reductase
What is the first enzyme involved in gluconeogenesis?
pyruvate carboxylase
Sphingolipids are synthesized from what two molecules?
Palmitoyl-CoA and Serine
What does E2F active?
CDK2-A/E
What inhibits p27-KIP1?
E/CDK2
What does p27KIP-1 Inhibit?
A/CDK2
What enzyme catalyzes R5P to PRPP?
PRPP synthetase
What inhibits the PDH?
NADH, citrate and acetyl-CoA
Is the PDH active with it is phosphorylated or de-phosphorylated?
de-phosphorylated
What reaction does phospho-mannoseisomerase catalyze?
F6P to M6P
What amino acid does arginosuccinate synthetase require?
Aspartate
What is the early response gene?
c-Fos
What enzyme is responsible for the salvage of pyrimidines? What pyrimidine is not salvaged?
pyrimidine phosphoribosyltransferase
cytosine
What enzyme of the PDH contains thiamine?
pyruvate decarboxylase
What catalyzes the reaction of UTP to CTP?
CTP synthase
What is the product of HMG-CoA Lyase?
Aceto-acetate
What is the product of Acetyl-CoA Thiolase?
aceto-acetyl-CoA
What is the final enzyme in ketone body synthesis?
beta-hydroxy-butyrate dehydrogenase
Regarding the G2/M checkpoint, what protein can inhibit the action of Cdc25c?
ATM
What can ATM detect?
double-stranded breaks
What activates BAX?
p53
What does BAX activate?
cyt C
What does cyt C activate?
APAF-1
What does APAF-1 activate?
caspase 9
What is the early response gene? What two genes contribute to the early response gene?
Fos
Jun and Myc
