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USMLE Reviewers > Deja Review USMLE 1 > Flashcards

Deja Review USMLE 1 Flashcards

1
Q

Which nucleotide bases are purines and which are pyrimidines?

A

“CUT the PY”
Cytosine, Uracil and Thymine = pyrimidines

“PURE as gold (AG)”
Adenine and Guanine are Purines

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2
Q

Which proteins make up the core of the nucleosome?

A

Histones: H2A, H2B, H3 and H4

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3
Q

Which proteins are associated with DNA between nucleosomes?

A

Histone H1

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4
Q

Name the mutation described:

Type of mutation that does not result in a change in amino acid sequence.

A

Silent

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5
Q

Name the mutation described:

Type of mutation that results in a change of amino acid sequence

A

Missense

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6
Q

Name the mutation described:

Type of mutation that results in a stop codon

A

Nonsense “no sense”

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7
Q

Name the mutation described:

Type of mutation that changes the reading frame

A

Frameshift

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8
Q

Name the mutation described:

Type of mutation in which a portion of the DNA is lost

A

Deletion

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9
Q

Name the mutation described:

Type of mutation in which as single base is exchanged.

A

Point

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10
Q

Name the type of cytogenetic disorder described below:

Failure of chromosomes to disjoin properly during cell division.

A

Nondisjunction

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11
Q

Name the type of cytogenetic disorder described below:

Loss of a portion of a chromosome

A

Deletion

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12
Q

Name the type of cytogenetic disorder described below:

Two internal chromosomal breaks with inverted reincorporation of a portion of the chromosome

A

Inversion

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13
Q

Name the type of cytogenetic disorder described below:
Single breaks in two chromosomes resulting in the exchange of segments between chromosomes without loss of genetic material

A

Balanced reciprocal transcription

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14
Q

Name the type of cytogenetic disorder described below:
Single breaks in two acrocentric chromosomes resulting in one large chromosome and one small chromosome accompanied by the loss of some genetic information

A

Robertsonian translocation

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15
Q

Name the type of cytogenetic disorder described below:
Mitotic error in early development leading to the development of two karyotypically distinct populations of cells in an organism.

A

Mosaicisim

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16
Q

What term is used to describe the AT-rich sequences in the genome where DNA replication begins

A

Origin of replication

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17
Q

Name the protein(s) involved in replication or DNA repair with the functions listed below:

Stabilize single stranded DNA

A

Single stranded DNA binding proteins

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18
Q

Name the protein(s) involved in replication or DNA repair with the functions listed below:

Recognition of AT-rich sequences at the origin of replication and separation of DNA strands.

A

DnaA protein

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19
Q

Name the protein(s) involved in replication or DNA repair with the functions listed below:

Unwinding DNA double helix

A

DNA helicase

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20
Q

Name the protein(s) involved in replication or DNA repair with the functions listed below:

Prevention of supercoiling during replication.

A

DNA topoisomerases

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21
Q

Name the protein(s) involved in replication or DNA repair with the functions listed below:

Placement of RNA primer at site where replication is initiated.

A

Primase, and an RNA polymerase

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22
Q

Name the protein(s) involved in replication or DNA repair with the functions listed below:

Removal of RNA primers from DNA synthesized discontinuously.

A

DNA polymerase I (specifically the 5’-3’ exonuclease activity)

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23
Q

Name the protein(s) involved in replication or DNA repair with the functions listed below:

DNA chain elongation in prokaryotes.

A

DNA polymerase III

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24
Q

Name the protein(s) involved in replication or DNA repair with the functions listed below:

Proofreading of newly synthesized DNA strand.

A

DNA polymerase III (specifically the 3’-5’ exonuclease activity)

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25
Q

Name the protein(s) involved in replication or DNA repair with the functions listed below:

Repair UV damage to DNA

A

UV-specific endonuclease, exonuclease, and DNA ligase

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26
Q

Name the protein(s) involved in replication or DNA repair with the functions listed below:

Removal of damaged bases from DNA

A

Apurinic or apyrimidinic endonuclease, exonuclease and DNA ligase

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27
Q

What term is used to describe the DNA strand synthesized continuously toward the replication fork?

A

Leading strand

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28
Q

What term is used to describe the DNA strand synthesized discontinuously away from the replication fork?

A

Lagging strand

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29
Q

What are the three stop codons?

A

UGA, UAA, UAG (U Go Away, U Are Away, U Are Gone)

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30
Q

In which direction are DNA and RNA synthesized?

A

5’->3’

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31
Q

What is the start codon?

A

AUG

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32
Q

Name the type of RNA responsible for each of the following functions:
Largest RNA molecule

A

mRNA

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33
Q

Name the type of RNA responsible for each of the following functions:
Most abundant type of RNA

A

rRNA

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34
Q

Name the type of RNA responsible for each of the following functions:
Smallest RNA molecule

A

tRNA

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35
Q

Name the type of RNA responsible for each of the following functions:
Portion of RNA transcript encoding information for protein synthesis

A

Exons

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36
Q

Name the type of RNA responsible for each of the following functions:
Portion of RNA transcript that is found between sequences of RNA encoding information for protein synthesis

A

Introns

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37
Q

Name the type of RNA responsible for each of the following functions:
Type of RNA covalently bound to a single amino acid

A

tRNA

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38
Q

Name the type of RNA responsible for each of the following functions:
Name the term used to describe the region of genomic DNA where RNA polymerase and transcription factors bind to regulate transcription.

A

Promoter

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39
Q

Name the type of RNA responsible for each of the following functions:
Name the term used to describe the region of genomic DNA where transcription factors bind to enhance transcription.

A

Enhancer

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40
Q

Name the enzyme responsible for each of the following functions:
Synthesis of mRNA

A

RNA polymerase II

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41
Q

Name the enzyme responsible for each of the following functions:
Synthesis of rRNA

A

RNA polymerase I

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42
Q

Name the enzyme responsible for each of the following functions:
Synthesis of tRNA

A

RNA polymerase III

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43
Q

Name three major regulatory mechanisms of transcription in eukaryotes.

A
  1. Regulation by transcription factors at the level of the promoter
  2. Regulation by histones binding to specific genomic regions
  3. Regulation of DNA structure (including methylation, gene rearrangement, and amplification)
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44
Q

What genetic stmcture regulates

transcription in prokaryotes?

A

An operon

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45
Q

Name the elements of an operon responsible for each of the following functions:
Region where proteins bind to regulate transcription

A

Promoter region

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46
Q

Name the elements of an operon responsible for each of the following functions:
Molecule that binds at the promoter

A

Operator

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47
Q

Name the elements of an operon responsible for each of the following functions:
Molecule that binds the operator to regulate transcription

A

Repressor

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48
Q

What are three modifications made to an RNA transcript before it leaves the nucleus?

A
  1. 5’ Capping with 7-methylguanosinn
  2. 3’ Polyadenylation
  3. Splicing of introns
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49
Q

Which small molecule provides the energy for charging a tRNA with its amino acid?

A

Adenosine triphosphate (ATP)

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50
Q

Which small molecule provides the energy for binding tRNA to the ribosome and for translocation?

A

Guanosine triphosphate (GTP)

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51
Q

Which molecules, central to the discipline of molecular biology, recognize and cleave specific sequences of a DNA molecule?

A

Restriction enzymes

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52
Q

Name the molecular biology technique described below:

Method of separating molecules based on movement through a gel placed in an electric field

A

Gel electrophoresis

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53
Q

Name the molecular biology technique described below:

Technique for detecting specific DNA sequences using restriction enzymes and a radiolabeled DNA probe

A

Southern blot

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54
Q

Name the molecular biology technique described below:

Technique for detecting specific RNA sequences using restriction enzymes and a radiolabeled DNA probe

A

Northern blot

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55
Q

Name the molecular biology technique described below:

Technique for detecting specific protein sequences using radiolabeled antibodies

A

Western blot

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56
Q

Name the molecular biology technique described below:

A rapid technique for amplifying a specific DNA sequence in vitro

A

PCR

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57
Q

Name the molecular biology technique described below:

Technique for detecting different alleles at a gene of interest using restriction enzymes

A

Restriction fragment length polymorphism analysis

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58
Q

Name the molecular biology technique described below:

Technique for detecting the presence of antigen or antibody using radiolabeled antibodies

A

Radioimmunoassay (RIA)

59
Q

Name the molecular biology technique described below:

Technique for detecting the presence of antigen or antibody using antibodies linked to enzymes with detectable activity

A

Enzyme-linked immunosorbent assay (ELISA)

60
Q

Name inheritance pattern described below:

Twenty five percent of offspring from two carrier parents affected

A

AR

61
Q

Name inheritance pattern described below:

Commonly cause defects in structural genes

A

AD

62
Q

Name inheritance pattern described below:

Commonly cause defects in enzymes

A

AR

63
Q

Name inheritance pattern described below:

Defect seen in multiple generations in both sexes

A

AD

64
Q

Name inheritance pattern described below:

Defects not typically seen in consecutive generations

A

AR

65
Q

Name inheritance pattern described below:

Disease is not observed in females

A

X-linked (XL) recessive

66
Q

Name inheritance pattern described below:

Disease is transmitted by mother

A

Mitochondrial inheritance

67
Q

Name inheritance pattern described below:

Half of male offspring from affected mother will manifest disease

A

XL Recessive

68
Q

Name inheritance pattern described below:

Disease manifestations commonly present after puberty

A

AD

69
Q

What are the conditions for a population to be in Hardy-Weinberg equilibrium?

A

l. No mutation at locus of interest
2. No selection for allele at locus of interest
3. Random mating
4. Closed population (no migration)

70
Q

What are the two Hardy-Weinberg equations?

A

p2 + 2pq + q2= 1 and p + q = 1

p and q are separate alleles and pq is the heterozygote frequency

71
Q

Name the disease or condition associated with each of the following statements:
Lack of UV-specific endonuclease causing dry skin and malignant melanoma

A

Xeroderma pigmentosa

72
Q

Name the disease or condition associated with each of the following statements:
Lack of aldolase B causing hypoglycemia, jaundice, and cirrhosis

A

Fructose intolerance

73
Q

Name the disease or condition associated with each of the following statements:
Lack of fructokinase causing fructosemia and fructosuria

A

Essential fructosuria

74
Q

Name the disease or condition associated with each of the following statements:
Lack of galactose-1-phosphate uridyltransferase causing cataracts, hepatosplenomegaly (HSM), and mental retardation

A

Galactosemia

75
Q

Name the disease or condition associated with each of the following statements:
Deficiency of lactase causing bloating, flatulence, and diarrhea on consumption of dairy products

A

Lactose intolerance

76
Q

Name the disease or condition associated with each of the following statements:
Lactic acidosis and neurologic deficits in an alcoholic

A

Pyruvate dehydrogenase deficiency

77
Q

Name the disease or condition associated with each of the following statements:
Hemolytic anemia in patients of Mediterranean descent after eating Java beans

A

Glucose-6-phosphate dehydrogenase

deficiency

78
Q

Name the disease or condition associated with each of the following statements:
Hemolytic anemia due to deficiency in glycolysis

A

Hexokinase, glucose-phosphate isomerase, aldolase, triose-phosphate isomerase, phosphate glycerate
kinase, enolase, or pyruvate kinase deficiency

79
Q

Name the disease or condition associated with each of the following statements:
Inappropriate hepatocellular accumulation of glycogen caused by a deficiency of glucose-6-phosphatase,
associated with severe fasting, hypoglycemia, and impaired fructose metabolism

A

von Gierke’s disease/Type I glycogen storage disease

80
Q

Name the disease or condition associated with each of the following statements:
vonGie;l§§s diseasehypg I
glycogen storage disease
Inappropriate accumulation glycogen in the liver, heart, and muscle caused by a deficiency of lysosomal alpha-1,4-glucosidase, resulting in cardiomegaly

A

Pompe’s disease/type II glycogen storage disease

81
Q

Name the disease or condition associated with each of the following statements:
Inappropriate accumulation of glycogen in liver and heart due to deficiency of alpha-1,6- glucosidase, a debranching enzyme often leading to muscular hypotonia

A

Cori’s disease/typelll glycogen storage disease

82
Q

Name the disease or condition associated with each of the following statements:
Inappropriate accumulation of glycogen in skeletal muscle fibers due to deficiency of glycogen phosphorylase leading to myalgia and myoglobinuria with exercise

A

McArdle’s disease/Type V glycogen storage disease

83
Q

Name the disease or condition associated with each of the following statements:
Defect in cystathione synthase leading to the presence of
homocysteine in the urine

A

Homocystinuria

84
Q

Name the disease or condition associated with each of the following statements:
Defect of renal tubular amino acid transporter for cysteine, ornithine, lysine, and arginine

A

Cystinuria

85
Q

Name the disease or condition associated with each of the following statements:
Inadequate catabolism of branched-chain amino acids (Ile, Val, and Leu) due to lack of a-ketoacid
dehydrogenase leading to mental retardation

A

Maple syrup urine disease

86
Q

Name the disease or condition associated with each of the following statements:
Lack of phenylalanine hydroxylase leading to a buildup of phenylalanine resulting in mental retardation, hypopigmentation, eczema, and a mousy odor

A

Phenylketonuria

87
Q

Name the disease or condition associated with each of the following statements:
Lack of homogentisic acid oxidase leading to a buildup of homogentisate causing darkening of the urine and connective tissues

A

Alkaptonuria

88
Q

Name the disease or condition associated with each of the following statements:
Lack of tyrosinase leading to a lack of melanin

A

Albinism

89
Q

Name the disease or condition associated with each of the following statements:
Lack of adenosine deaminase inhibits DNA synthesis by causing the accumulation of metabolites in the
purine salvage pathway; one of the causes of severe combined immunodeficiency syndrome

A

Adenosine deaminase deficiency

90
Q

Name the disease or condition associated with each of the following statements:
Lack of hypoxanthine-guanine phosphoryltransferase (HGPRTase) causing an overproduction of uric acid
leading to neurologic deficits, hyperuricemia, and behavioral abnormalities, including self-mutilation

A

Lesch-Nyhan syndrome (Lacks Nucleotide Salvage)

91
Q

Name the disease or condition associated with each of the following statements:
Trisomy 21 -> mental retardation, slanted palpebral fissures,
hypertelorism, macroglossia, and multiple visceral anomalies

A

Downs syndrome

92
Q

Name the disease or condition associated with each of the following statements:
Expansion of unstable region of X chromosome leading to mental retardation, enlarged testes, and craniofacial anomalies

A

Fragile X syndrome

93
Q

Name the disease or condition associated with each of the following statements:
XL recessive deficiency of a-galactosidase A -> buildup of
ceramide trihexose which causes pain in the extremities, ocular abnormalities, and renal failure

A

Fabry’s disease

94
Q

Name the disease or condition associated with each of the following statements:
AR deficiency of galactosylceramide B-galactosidase leading to cerebral accumulation of galactocerebroside, which causes progressive neurologic degeneration

A

Krabbe’s disease

95
Q

Name the disease or condition associated with each of the following statements:
AR deficiency of B-glucocerebrosidase leading to the accumulation of glucocerebroside in the brain, bone marrow, liver, and spleen -> HSM and neurologic dysfunction

A

Gaucher’s disease

96
Q

Name the disease or condition associated with each of the following statements:
AR deficiency of sphingomyelinase leading to buildup of sphinogmyelin and cholesterol in histiocytes of the
liver, spleen, and lymphatic system resulting in cortical atrophy and HSM

A

Niemann-Pick disease

97
Q

Name the disease or condition associated with each of the following statements:
AR deficiency of hexosaminidase A leading to the accumulation of GM2 ganglioside within lysosomes resulting in neurologic degeneration and developmental delay

A

Tay-Sachs disease

98
Q

Name the disease or condition associated with each of the following statements:
AR deficiency of arylsulfatase A leading to an accumulation of sulfated glycolipids and dysfunction and demyelination of the central and peripheral nervous systems

A

Metachromatic leukodystrophy

99
Q

Name the disease or condition associated with each of the following statements:
XL recessive deficiency of iduronate sulfatase leading to an accumulation of heparan and dermatan sulfate resulting in mental retardation, coarse facial features, and short stature

A

Hunter’s syndrome

100
Q

Name the disease or condition associated with each of the following statements:
AR deficiency of a-L-iduronidase leading to the accumulation of partially degraded glycosaminoglycans within lysosomes resulting in dysmorphic, gargoyle-like facies, corneal clouding, HSM, and skeletal abnormalities

A

Hurler’s syndrome

101
Q

Name the disease or condition associated with each of the following statements:
AR deficiency of UDP-N-acetylglucosamine:
N-acetylglucosaminyl-L-phosphotransferase leading to
defective trafficking of enzymes into lysosomes -> developmental delay and coarse facial features

A

I-cell disease (mucolipidosis type Il)

102
Q

Name the genetic disease associated with each of the following clinical or pathologic findings:
Cherry red spot of the macula

A

Tay-Sachs disease and Niemman- Pick disease

103
Q

Name the genetic disease associated with each of the following clinical or pathologic findings:
Cells containing “crinkled paper” cytoplasm and glycolipid-laden macrophages

A

Gaucher’s disease

104
Q

Name the genetic disease associated with each of the following clinical or pathologic findings:
Corneal clouding

A

Hurler’s syndrome

105
Q

Name the major metabolic pathway regulated by the following enzymes:
Citrate synthase

A

Citric acid cycle

106
Q

Name the major metabolic pathway regulated by the following enzymes:
Phosphofructokinase, pyruvate dehydrogenase

A

Glycolysis

107
Q

Name the major metabolic pathway regulated by the following enzymes:
Pyruvate carboxylase, phosphoenolpyruvate carboxykinase, fructose-1,6-phosphatase

A

Gluconeogenesis

108
Q

Name the major metabolic pathway regulated by the following enzymes:
Glycogen synthase

A

Glyconeogenesis

109
Q

Name the major metabolic pathway regulated by the following enzymes:
Glycogen phosphorylase

A

Glycogenolysis

110
Q

Name the major metabolic pathway regulated by the following enzymes:
Glucose-6-phosphate dehydrogenase

A

Pentose phosphate pathway

111
Q

Name the major metabolic pathway regulated by the following enzymes:
Acetyl-coenzyme A (CoA) carboxylase

A

Lipogenesis

112
Q

Name the major metabolic pathway regulated by the following enzymes:
Carnitine acyltransferase

A

Lipolysis

113
Q

Name the major metabolic pathway regulated by the following enzymes:
HMG-CoA reductase

A

Cholesterol synthesis

114
Q

Name the major activators and/or inhibitors for each of the following enzymes:
Citrate synthase

A

Activator: no major activator
Inhibitors: ATR NADH, succinyl-CoA, and acyl-CoA derivatives of fatty acids

115
Q

Name the major activators and/or inhibitors for each of the following enzymes:
Phosphofructokinase

A

Activator: AMR fructose-2,6-bisphosphate (liver), and fructose-1,6-bisphosphate (muscle)
Inhibitor: citrate, ATR and CAMP

116
Q

Name the major activators and/or inhibitors for each of the following enzymes:
Pyruvate dehydrogenase

A

Activator: CoA, NAD, ADR and pyruvate
Inhibitor: Acetyl-CoA, NADH, and ATP

117
Q

Name the major activators and/or inhibitors for each of the following enzymes:
Pyruvate carboxylase

A

Activator: Acetyl-CoA
Inhibitor: ADP

118
Q

Name the major activators and/or inhibitors for each of the following enzymes:
Fructose-1,6-bisphosphatase

A

Activator: CAMP
Inhibitor: AMP and fructose-2,6-bisphosphate

119
Q

Name the major activators and/or inhibitors for each of the following enzymes:
Glycogen synthase

A

Activator: glucose-6-phosphate
Inhibitor: no major inhibitor

120
Q

Name the major activators and/or inhibitors for each of the following enzymes:
Glycogen phosphorylase

A

Activators: cAMP and Ca2+ (muscle)
Inhibitors: glucose, glucose-6-phosphate, and ATP

121
Q

Name the major activators and/or inhibitors for each of the following enzymes:
Glucose-6-phosphate dehydrogenase

A

Activator: NADP+
Inhibitor: NADPH

122
Q

Name the major activators and/or inhibitors for each of the following enzymes:
Acetyl-CoA carboxylase

A

Activator: citrate
Inhibitor: malonyl-CoA, palmitoyl-CoA, and cAMP

123
Q

Name the major activators and/or inhibitors for each of the following enzymes:
Carnitine acyltransferase

A

Activator: no major activator
Inhibitor: malonyl-CoA

124
Q

Name the major activators and/or inhibitors for each of the following enzymes:
HMG-CoA reductase

A

Activator: no major activator
Inhibitor: cholesterol and cAMP

125
Q

Describe the effect of insulin on the following metabolic processes:
Glycogen synthesis in muscle and liver

A

Increase

126
Q

Describe the effect of insulin on the following metabolic processes:
Gluconeogenesis in the liver

A

Decrease

127
Q

Describe the effect of insulin on the following metabolic processes:
Glycogenolysis in the liver

A

Decrease

128
Q

Describe the effect of insulin on the following metabolic processes:
Glucose uptake in muscle and adipose tissue

A

Increase

129
Q

Describe the effect of insulin on the following metabolic processes:
Triacylglycerol degradation

A

Decrease

130
Q

Describe the effect of insulin on the following metabolic processes:
Tracylglycerol synthesis

A

Increase

131
Q

Describe the effect of insulin on the following metabolic processes:
Protein synthesis

A

Increase

132
Q

Describe the effect of glucagon on the following metabolic processes:
Glycogenolysis in the liver

A

Increase

133
Q

Describe the effect of glucagon on the following metabolic processes:
Gluconeogenesis in the liver

A

Increase

134
Q

Describe the effect of glucagon on the following metabolic processes:
B-Oxidation of fatty acids in the liver

A

Increase

135
Q

Describe the effect of glucagon on the following metabolic processes:
Amino acid uptake by liver

A

Increase

136
Q

Which small molecule accepts reducing equivalents and is typically involved in catabolic processes?

A

NAD+

137
Q

Which small molecule donates reducing equivalents and is typically involved in anabolic processes?

A

NADPH

138
Q

Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Citric acid cycle

A

Mitochondria

139
Q

Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Fatty acid oxidation

A

Mitochondria

140
Q

Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Fatty acid synthesis

A

Cytosol

141
Q

Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Gluconeogenesis

A

Both

142
Q

Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Glycolysis

A

Cytosol

143
Q

Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Heme synthesis

A

Both

144
Q 
Name the cellular compartment (cytosol, mitochondria, or both) where each of the following processes occur:
Hexose monophosphate (HMP) shunt
A

Cytosol

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