Final Flashcards
(153 cards)
1
Q
In Alzheimers, Lewy Bodies are composed of what type of protein?
A
alpha-synuclein
2
Q
In Alzheimers, what are the plaques made of? The fibrils?
A
plaques = beta-amyloid
fibrils = Tau
3
Q
In sickle cells anemia, what amino acid is mutated?
A
glutamate to Valine
4
Q
What region of a protein do chaperones bind?
A
hydrophobic
5
Q
Scurvy features a defect in what protein?
A
hydroxyproline
6
Q
What class of molecules feature an ether linkage between two components?
A
plasmalogens
7
Q
What receptor do alpha-neurotoxins target and destroy?
A
NAchR
8
Q
Atrial natriuretic peptide features what type of guanylate cyclase?
A
soluble guanylate cyclase
9
Q
What G-protein does cholera toxin target? What modification does it add to these G-protein?
A
Gs
ADP-ribosylation (turn on)
10
Q
What G-protein does pertussis target? What modification does it add to these G-protein?
A
Gi
ADP-ribosylation (turned off)
11
Q
What toxin does yersenia pestis produce? What does this toxin do?
A
YopH
tyrosine phosphatase
12
Q
Pellagra features a defect in what product?
A
Niacin
13
Q
What is B5 known as?
A
pantothenic acid
14
Q
What is the PDH inhibited by?
A
NADH, acetyl-CoA and citrate
15
Q
Wernicke Korsakoff features a defect in what molecule?
A
thiamine
16
Q
What two enzymes require thiamine?
A
PDH and alpha-KG
17
Q
What amino acid is mitated in MERRF?
A
lysine tRNA
18
Q
Crigler-Najjar Syndrome (Gilbert Disease) features a defect in what protein?
A
glucoronosyltransferase
19
Q
FA degradation disorders present with what type of observation?
A
hypoglycemia and low ketone bodies
20
Q
FA degradation requires what kind of bond?
A
trans
21
Q
alpha-oxidation degrades what kind of fatty acids?
A
branched chain
22
Q
acute fatty liver of pregnancy cant degrade what molecule?
A
long chain fatty acids
23
Q
Refsum disease features defects in degrading what kind of molecule?
A
branched chain FAs
24
Q
In the ER, what molecule is used as a donor for FA synthesis? Mitochondria?
A
malonyl-CoA
acetyl-CoA
25
What is the committed step in ketone body synthesis?
HMG CoA Lyase
26
Where does FA desaturation occur?
ER
27
What is the reguated step of FA degradation?
CPT-1
28
PPAR activates genes required for what?
fatty acid oxidation and ketone
29
What is the committed step of FA synthesis?
acetyl-CoA Carboxylase
30
What protein kinase activates HSL?
PKA
31
What is the function of DGAT?
to transfer a fatty acid to DAG
committed step of FA acid synthesis
32
Which side, cytosolic or luminal, are negatively charged compounds found?
cytosolic face
33
What are leukotrienes synthesized from?
arachidonic acid
34
What composes lactoce?
glucose and galactose
35
What tissues participate in the glycerol phosphate shuttle?
muscle and brain
36
WHat tissues participate in the malate aspartate shuttle?
liver and heart
37
What is the most regulated enzyme of gluconeogenesis?
F16bPase
38
Arseate bypasses what enzyme of glycolysis?
GAPDH
39
What co-factor is required for the non-oxidative phase of the PPP?
thiamine
40
What enzyme converts G6P to G1P?
phosphoglucomutase
41
What two receptors/enzymes of GNG do muscles lack?
glucagon receptor and G6Pase
42
Van Gierke defect?
G6Pase
43
Cori Disease defect?
debranching enzyme
44
Pompe disease defect?
1,4-glucosidase
45
McArdle disease defect?
glycogen phosphorylase
46
Hunter syndrome defect?
Iduronate Sulfatase
47
Hurler syndrome defect?
a-Iduronase
48
San Filippo defect?
Heperan sulfate
49
What sugars are attached to ceramide to form cerebroside?
glucose or galactose
50
What sugars are attached to ceramide to form globosides?
2-4 neutral sugars
51
What sugars are attached to ceramide to form gangliosides?
NANA
52
What enzyme is deficient in Gaucher's Disease?
beta-glucosidase
53
What is the committed step of cholesterol synthesis?
HMG CoA Reductase
54
What is the first product committed to cholesterol synthesis?
Mevalonic Acid (Mevalonate)
55
What cofactor do all the aminotransferases have a requirement for?
pyridoxal phosphate (B6)
56
Serine Hydroxymethyltransferase catalyzes what reaction? What is produced?
Ser --> Gly
THF
57
What enzyme is deficient in homocystinuria?
cystathione beta synthase
58
What enzyme is defective in familial hyperinsulinemic hypoglycemia? What is the defect?
glutamate dehydrogenase
glutamate is not inhibited by GTP
59
What cofactor does the glycine cleavage pathway produce?
N510 THF
60
What enzyme metabolizes Propionyl-CoA?
propionyl CoA Carboxylase
61
What is propionyl CoA eventually converted into?
succinyl CoA
62
What co-factor is required to convert Propionyl-CoA into Succinyl-CoA?
B12
63
What is cofactor does methionine synthase produce?
THF
64
What does methionine synthase convert into methionne?
homocysteine
65
What enzyme is defective in tyrosinemia II?
tyrosine aminotransferase
66
What enzyme is deficient in alkaptonuria?
homogentisate oxidase
67
What enzyme is deficient in tyrosinemia I?
fumarylacetoacetate hydrolase
68
What enzyme catalyzes the committed step of pyrimidine synthesis?
amidophosphoribosyltransferase
69
What enzyme is deficient in orototic aciduria?
UMP Synthase (OMP Decarboxylase and Orotate Phosphoribosyl Transferase)
70
What is broken down into beta-aminoisobutyrate?
dTMP
71
What is broken down into beta-alanine?
all other pyrimidines
72
HGPRTase salvages what purines?
hypoxanthine and guanine
73
What enzymes salvages adenine?
APRTase
74
What vitamin contains a series of unconjugated double bonds?
Vitamin A
75
What lipid breakdown product is indicative of oxidative stress?
malondialdehdye
76
What protein controls G1/S?
RB-E2F
77
What proteins controls S?
P27-KIP1
78
What protein controls G2/S?
Cdc25c
79
What does Cdc25c activate?
1-A/B
80
What does Cdc25a activate?
2-A/E
81
What activates p53? What does p53 activate?
ATM/ATR
p21-CIP1
82
What does beta-catenin active?
Myc and Cyclin D
83
What oncogene is translocated in Burkitts Lymphoma?
c-Myc from chromosome 8 to chromosome 14
84
What does Mdm2 serve to do in regards to p53?
E3 ubiquitin ligase
85
What does NF1 function to do?
increase GTP hydrolysis of Ras
86
What chromosomal aberration is present in chronic myeloid leukemia?
philadelphia chromosome
87
What DNA polymerase contaisn exonuclease activity?
DNA polymerase delta
88
Defects in what process are inhibited in xeroderma pigmentosum?
nucleotide excision repair
89
What is cytarabine an analogue of?
cytosine
90
WHat is cytarabine used to treat?
acute leukemia
91
What is cyclophosphamide used to treat? What is the mechanism of action of cyclophosphamide?
Hodgkins lymphoma
DNA intercalating agent
92
What TFII contains helicase activity?
TFIIH
93
What does alpha-amanitin inhibit?
eukaryotic RNA Pol II
94
What signals SREBP1a to translocate to the nucleus?
low intracellular cholesterol levels
95
What is the mechanism of action of tetracycline?
inhibits tRNA from entering the A site
96
E2F can be inhibited by what toxin?
diptheria
97
Myristoylation occurs on what residues?
N-terminal glycines
98
Where are isoprenoids attached?
cyteines at C terminus
99
Where are palmitic acids attached?
cysteines throughout the protein
100
What residues signal long life of proteins? What residues singla short life of protein?
Ser or Met
short = Lys or Arg
101
Gain of function RET = ?
multiple endocrine neoplasia
102
Loss of function RET = ?
Hirchsprung Disease
103
LHON affects what mitochondrial complex?
complex I
104
what proteins bring about de novo methylation of protein?
DNMT3a and DNMT3b
105
Beckwith-Wiedemann = ?
What protein is over-expressed in Beckwith-Wiedemann?
two copies of paternal 11
IGFR2
106
HDAC inhibitors treat?
chronic lymphocytic leukemia
107
DNMT inhibitor = ?
What does it treat?
5-AZT
acute myeloid leukemia
108
What do noggin/chordin do?
induce dorsal development
109
What is the function of HOX?
patterning along the anterior and posterior axis
110
What defects are seen with aberrant Shh signaling?
midface and forebrain
111
What is the function of Nodal?
left looping of the heart
112
What is the fuction of HOX11/13?
distal development of limbs
113
Smith Lemli Opitz syndrome affects the signaling of what molecule?
Shh
114
Hematochromatosis protects against?
Plague
115
CFTR protects against?
typhoid
116
Where is HMG-CoA Lyase expressed?
liver and kidney
117
What does Phenylalanine Hydroxylase oxidize?
Tetrahydrobiopterin
118
What kind of FAs get funneled to propionyl-CoA?
odd chain fatty acids
119
What is the early response gene? What does the early response gene transcribe?
c-Fos
Mid and Late G1 cyclins
120
What do CBP and EP300 function as?
HAT
121
Bcr-Abl fusion activates what?
soluble protein tyrosine kinase
122
What is Rituximab used to treat?
non-Hodgkins Lymphoma
123
What drug is used to treat Hodgkins Lymphoma?
cyclophosphamide
124
What enzyme converts hypoxanthine to xanthine?
xanthine oxidase
125
What enzyme converts xanthine to uric acid?
xanthine oxidase
126
What reaction does amidophosphoribosyltranse catalyze?
PRPP to PRA
127
What is the committed step of heme synthesis?
ALA synthase
128
What does ribonucleotide reductase oxidize?
thioredoxin
129
What enzyme does hydroxyurea inhibit?
ribonucleotide reductase
130
What is the first enzyme involved in gluconeogenesis?
pyruvate carboxylase
131
Sphingolipids are synthesized from what two molecules?
Palmitoyl-CoA and Serine
132
What does E2F active?
CDK2-A/E
133
What inhibits p27-KIP1?
E/CDK2
134
What does p27KIP-1 Inhibit?
A/CDK2
135
What enzyme catalyzes R5P to PRPP?
PRPP synthetase
136
What inhibits the PDH?
NADH, citrate and acetyl-CoA
137
Is the PDH active with it is phosphorylated or de-phosphorylated?
de-phosphorylated
138
What reaction does phospho-mannoseisomerase catalyze?
F6P to M6P
139
What amino acid does arginosuccinate synthetase require?
Aspartate
140
What is the early response gene?
c-Fos
141
What enzyme is responsible for the salvage of pyrimidines? What pyrimidine is not salvaged?
pyrimidine phosphoribosyltransferase
cytosine
142
What enzyme of the PDH contains thiamine?
pyruvate decarboxylase
143
What catalyzes the reaction of UTP to CTP?
CTP synthase
144
What is the product of HMG-CoA Lyase?
Aceto-acetate
145
What is the product of Acetyl-CoA Thiolase?
aceto-acetyl-CoA
146
What is the final enzyme in ketone body synthesis?
beta-hydroxy-butyrate dehydrogenase
147
Regarding the G2/M checkpoint, what protein can inhibit the action of Cdc25c?
ATM
148
What can ATM detect?
double-stranded breaks
149
What activates BAX?
p53
150
What does BAX activate?
cyt C
151
What does cyt C activate?
APAF-1
152
What does APAF-1 activate?
caspase 9
153
What is the early response gene? What two genes contribute to the early response gene?
Fos
Jun and Myc
