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Molecular Mechanisms > Block 1 > Flashcards

Block 1 Flashcards

1
Q

drug that targets c-Abl oncogene in specific kinase domain

A

gleevec

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2
Q

pirymidines

A

cytosine, uracil, thymine

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3
Q

issues with glycogen storage

A

(LSD) Pompe (AR)

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4
Q

rossman folds

A

tertiary structure (combo of motifs) typically binding nucleotides

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5
Q

dietary fructose intolerance

A

Glut5 deficiency

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6
Q

drug that attacks HIV protease

A

ritonavir

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7
Q

ARF

A

GTPase that regulates COP I and clathrin at TGN

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8
Q

lipids mainly present at internal face

A

phosphatidyl serine, phosphatidyl ethanolamine

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9
Q

euchromatin

A

active –> acetylated (some methylation too)

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10
Q

nuclear export

A

complex Ran-GTP+cargo+nuclear export receptor transverse pore and dissociate due to Ran-GAP

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11
Q

GLUTs

A

glucose transporter at basolateral surface of intestinal cells GLUT4 insulin sensitive GLUT2 (fructose exit at basal s) GLUT 5 (apical surface; fructose)

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12
Q

COP II

A

ER -> Golgi

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13
Q

nuclear import

A

RanGTP frees cargo inside nucleus; RanGTP created by RanGEF from RanGDP

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14
Q

ER surface to which new lipids are inserted; proteins involved in lipid “regulation”

A

cytosolic face of membrane; scramblase - symmetrical growth flippase (plasma membrane)

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15
Q

misglutat

A

drug that prevents ceramide to make glucoceramide (Gaucher’s)

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16
Q

RNA cap

A

5’ methylguanosine cap (avoid degradation)

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17
Q

lysosomal transport

A

Mannose-6-phosphate

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18
Q

constitutive transfer

A

when vesicles fuse cytosolic membrane remains inside, luminal leaflet remains outside

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19
Q

BiP

A

quality control for misfolded proteins has KDEL sequence that sends it back to ER if it escapes to Golgi

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20
Q

prosthetic groups

A

coFactors - chemically active non aa parts of protein

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21
Q

beta sheets

A

180 degrees Phi and Psi anti parallel more stable (H bonds closely aligned); R groups above and below

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22
Q

glycogen, amylase, amylopectin, cellulose

A

glycogen: alpha 1,4 and 1,6 (branches); glycogenin amylase: alpha 1,4; no glycogenin; not branched amylopectin: alpha 1,4 and 1,6; no starter molecule cellulose: beta 1,4; linear

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23
Q

tetracycline

A

antibiotic that targets rRNA

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24
Q

purines

A

adenine, guanine

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25
Q

signature sequences for splicing

A

GUAUGU—-A—–AG [A = branchpoint]

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26
Q

Hunter

A

LSD; XLR MPS II iduronidase sulfatase W402x (dermatan and heparan sulfate) coarse face, thick hair, hirsutism, no corneal clouding blood smear/urine test/bone xray Enzyme replacement therapy

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27
Q

GPI linkages

A

attach proteins to membrane lipids via covalent bonds increases membrane fluidity

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28
Q

Amino acyl transferase

A

“loads” tRNA

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29
Q

Pompe

A

LDS; AR alpha 1,4 glucosidase hypotonia, cardiomyopathy, macroglossia (tongue) Enzyme replacement therapy (works only for cardiac muscle)

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30
Q

Sar1

A

regulates COP II at ER

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31
Q

order of initiation factors

A

TFIID +TBP –> TFIIB (asymmetrical) –> PolII –> TFIIA (unwinding) Swi/snf slides off 25bp before transcription factors bind. Histone acetylation

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32
Q

Hurler

A

LSD; AR MPS I alpha-iduronidasa deficiency (dermatan and heparan sulfate) coarse face, hair, thick eyebrows, CORNEAL CLOUDING, boney changes, claw like hands. heart issues Enzyme replacement therapy

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33
Q

calcineurin inhibitors

A

calcineurin - phosphatase activated by Ca; reveals NLS in NF-AT –> transcription factor that activates Tcells. used as immunosuppressor for transplant pts

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34
Q

issues with spingolipids

A

(LSD) Tay-Sachs (AR) Fabry’s (XLR) Gaucher’s (AR)

35
Q

lipid exposed at cell death

A

phosphatidyl serine

36
Q

examples of structure-function of membrane protein

A

K channel - carbonyl ladder voltage gating domain - RRR (+) imbedded in membrane

37
Q

X-Y plot of Phi and Psi angels (peptides around alpha carbon)

A

Ramachandran plot

38
Q

Golgi to plasma membrane

A

clathrin. complex: cargo - adaptor - clathrin. dynamin.

39
Q

spliceosomes are made of

A

ribonucleic proteins called small nuclear RNAs (snrps/ RNP)

40
Q

mitochondrial import sequence

A

signal rich in Lys/Arg (+) interspersed in a long chain

41
Q

hereditary spherocytosis (cause and treatment)

A

spectrin or ankryin (cytoskeletal) mutation - hemolytic anemia - spherical RBC eaten in spleen - splenectomy

42
Q

spinal muscular atrophy

A

caused by error in splicing of SMN1 in neurons

43
Q

error in splicing of glutamate receptor causes…

A

paraneoplastic opsoclonus myoclonus ataxia

44
Q

endosomal delivery to lysosome - determines if receptors will be degrated

A

ubiquitination (ubiquitinated receptors recognized by ESCRT proteins)

45
Q

butulinum

A

digests SNARE proteins

46
Q

lipids mainly present at external surface

A

phosphatidyl choline, sphingomyelin, gangliosides (glycosylated lipids)

47
Q

LSD

A

lysosome storage disorder Glycosoaminoglycans (GAGs)/glycogen storage/sphingolipids

48
Q

mitochondrial transporter proteins

A

Tom (outer membrane) +Sam Tim (inner membrane)+ Oxa

49
Q

alpha helix

A

H bonds every 3.6 aa R groups facing out usually right handed

50
Q

cori cycle

A

lactate to pyruvate in liver

51
Q

RSV vaccine

A

targets immunogenic but unstable domain

52
Q

NPC lined with:

A

FG repeats - interact with import and export receptors (shuttle proteins)

53
Q

order of snrps

A

u1 recognizes; u6 replaces u1 (proof read); u2 recognizes midpoint (proof read); u4/5/6 form lariat; u5 holds the 2 exons and catalizes re-annealing **splicing takes energy! ATP

54
Q

heterochromatin

A

inactive –> methylated histones

55
Q

issues with GAG storage

A

(LSD) GAG: glucosoaminoglycan MPS: mucopolysaccharidosis I - Hurler (AR) II - Hunter (XLR)

56
Q

where transcription factors bind

A

major groove of DNA; promoter and enhancer regions. Pol II binds to tata box

57
Q

RanGDP RanGTP

A

cytosol; gains cargo nucleus; promotes discharge of cargo in nucleus; causes cargo binding to nuclear export receptors

58
Q

hereditary fructose intolerance

A

malfunction of aldolase B (fructose –> F1P)

59
Q

Enzyme replacement therapy for LSD

A

based on fact that M6PR sometimes stays on the cell surface; works for Fabry,Gauchers, MPSI II, Pompe. Not for Tay Sachs b/c predominantly brain disease

60
Q

initiation factor

A

TFIID

61
Q

autophagy of mitochondria

A

failure to generate voltage - PINK stays at surface - ubiquitinated by Parkin

62
Q

biosynthetic path to lysosome steps

A

UDP-GlcNAc phosphotransferase adds P-GlcNac to Man6; GlcNac removed –> end up w enzyme-Man6P –> M6PR recognized by AP1 –> clathrin –> fuse w maturing endosome. M6PR recycled

63
Q

starting codon

A

AUG

64
Q

initiation factors required in mammals

A

TBP (TATA binding protein), TFIID, A, B, F

65
Q

nuclear import sequence

A

Lys-Lys-Lys-Arg-Lys (KKKRK)

66
Q

most common membrane lipid

A

phosphatidyl choline

67
Q

absorbs monosaccharides (most famous cotransporter)

A

SGLT1 (2 NA:glucose) at apical membrane

68
Q

3 paths to lysosomes

A

biosynthesis; endosomal delivery; autophagy

69
Q

Tamiflu and Relenza

A

target beta propeller of viral protein neuraminidase that cuts off sialic acids in order for the virus to be released

70
Q

Swi/Snf

A

unwinds and pushes nucleosome 15 basepairs downstream

71
Q

Gaucher’s

A

LDS; AR glucocerebrosidase (GL1 accumulates = ceramide+glc) hepatosplenomegaly; anemia; glow platelets; 3 types w varying severity Enzyme replacement therapy (not for type II)

72
Q

coiled coiled

A

hydrophobic aa in 4th position of the 7 aa it takes to make spiral

73
Q

intercompartment communication

A

gated, transmembrane (mitochondria), vesicular

74
Q

SRP

A

signal recognition particle - triggers translation into ER lumen

75
Q

Beta Thalasemia

A

defect in hemoglobin due to error in splicing

76
Q

GEF GAP

A

turns GTPase on (GDP -> GTP) turns GTPase off (GTP -> GDP)

77
Q

vesicle fusion proteins

A

Rab (GTPase –> pulls Rab off so snares can be pulled open), v-Snare, t-Snare (NSF ATPase pulls apart)

78
Q

Tay-Sachs

A

LDS; AR hexosaminidase A (A and B- Sandhoff’s) - remove GlcNac normal early dev; hypersensitivity to loud sounds; blindness; seizures cherry red spot in retina

79
Q

Fabry’s

A

LDS; XL ganglioside GL3 accumulates in blood vessels b/c alpha-galactosidase cannot remose galactose burning pain in hands and feet; GL3 in cornea in radial patterns; stroke, ischemic heart disease, kidney disease, angiokeratomas

80
Q

Glycogen Storage Disease 1a

A

(von Gierke’s)

Glucose-6 phosphatase off

hypoglycemia

excess lactate and alanine (G6P excess will push pyruvate into these)

uric acid

few ketones (too mych acetyl coA–> fat synthesis)

treatment: feed sugar all the time

81
Q

Galactosemia

A

GALT

can’t convert Gal1P to UDPGal –> galactitol accumulates in neurons, liver, optic lens –> jaundice, brain damage, cataracts

82
Q

Hereditary Fructose Intolerance

A

Aldose B defective (F1P to glyceraldehyde3P)

hypoglycemia, hepatomegaly, weakness and fatigue when kid starts drinking juice

83
Q

Congenital HyperInsulinism due to Glutamate Dehydrogenase Mutation

A

GDH mutation - gain of function - not regulated by ATP/ADP - K channel always on - insulin released. Stimulated by leucine (protein meal)

presentation: hypoglycemia after meal w protein
treatment: diazoxide (SUR; K channel open)

Molecular Mechanisms (3 decks)

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