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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
signature sequences for splicing
GUAUGU----A-----AG [A = branchpoint]
26
Hunter
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
27
GPI linkages
attach proteins to membrane lipids via covalent bonds increases membrane fluidity
28
Amino acyl transferase
"loads" tRNA
29
Pompe
LDS; AR alpha 1,4 glucosidase hypotonia, cardiomyopathy, macroglossia (tongue) Enzyme replacement therapy (works only for cardiac muscle)
30
Sar1
regulates COP II at ER
31
order of initiation factors
TFIID +TBP --\> TFIIB (asymmetrical) --\> PolII --\> TFIIA (unwinding) Swi/snf slides off 25bp before transcription factors bind. Histone acetylation
32
Hurler
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
33
calcineurin inhibitors
calcineurin - phosphatase activated by Ca; reveals NLS in NF-AT --\> transcription factor that activates Tcells. used as immunosuppressor for transplant pts
34
issues with spingolipids
(LSD) Tay-Sachs (AR) Fabry's (XLR) Gaucher's (AR)
35
lipid exposed at cell death
phosphatidyl serine
36
examples of structure-function of membrane protein
K channel - carbonyl ladder voltage gating domain - RRR (+) imbedded in membrane
37
X-Y plot of Phi and Psi angels (peptides around alpha carbon)
Ramachandran plot
38
Golgi to plasma membrane
clathrin. complex: cargo - adaptor - clathrin. dynamin.
39
spliceosomes are made of
ribonucleic proteins called small nuclear RNAs (snrps/ RNP)
40
mitochondrial import sequence
signal rich in Lys/Arg (+) interspersed in a long chain
41
hereditary spherocytosis (cause and treatment)
spectrin or ankryin (cytoskeletal) mutation - hemolytic anemia - spherical RBC eaten in spleen - splenectomy
42
spinal muscular atrophy
caused by error in splicing of SMN1 in neurons
43
error in splicing of glutamate receptor causes...
paraneoplastic opsoclonus myoclonus ataxia
44
endosomal delivery to lysosome - determines if receptors will be degrated
ubiquitination (ubiquitinated receptors recognized by ESCRT proteins)
45
butulinum
digests SNARE proteins
46
lipids mainly present at external surface
phosphatidyl choline, sphingomyelin, gangliosides (glycosylated lipids)
47
LSD
lysosome storage disorder Glycosoaminoglycans (GAGs)/glycogen storage/sphingolipids
48
mitochondrial transporter proteins
Tom (outer membrane) +Sam Tim (inner membrane)+ Oxa
49
alpha helix
H bonds every 3.6 aa R groups facing out usually right handed
50
cori cycle
lactate to pyruvate in liver
51
RSV vaccine
targets immunogenic but unstable domain
52
NPC lined with:
FG repeats - interact with import and export receptors (shuttle proteins)
53
order of snrps
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
heterochromatin
inactive --\> methylated histones
55
issues with GAG storage
(LSD) GAG: glucosoaminoglycan MPS: mucopolysaccharidosis I - Hurler (AR) II - Hunter (XLR)
56
where transcription factors bind
major groove of DNA; promoter and enhancer regions. Pol II binds to tata box
57
RanGDP RanGTP
cytosol; gains cargo nucleus; promotes discharge of cargo in nucleus; causes cargo binding to nuclear export receptors
58
hereditary fructose intolerance
malfunction of aldolase B (fructose --\> F1P)
59
Enzyme replacement therapy for LSD
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
initiation factor
TFIID
61
autophagy of mitochondria
failure to generate voltage - PINK stays at surface - ubiquitinated by Parkin
62
biosynthetic path to lysosome steps
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
starting codon
AUG
64
initiation factors required in mammals
TBP (TATA binding protein), TFIID, A, B, F
65
nuclear import sequence
Lys-Lys-Lys-Arg-Lys (KKKRK)
66
most common membrane lipid
phosphatidyl choline
67
absorbs monosaccharides (most famous cotransporter)
SGLT1 (2 NA:glucose) at apical membrane
68
3 paths to lysosomes
biosynthesis; endosomal delivery; autophagy
69
Tamiflu and Relenza
target beta propeller of viral protein neuraminidase that cuts off sialic acids in order for the virus to be released
70
Swi/Snf
unwinds and pushes nucleosome 15 basepairs downstream
71
Gaucher's
LDS; AR glucocerebrosidase (GL1 accumulates = ceramide+glc) hepatosplenomegaly; anemia; glow platelets; 3 types w varying severity Enzyme replacement therapy (not for type II)
72
coiled coiled
hydrophobic aa in 4th position of the 7 aa it takes to make spiral
73
intercompartment communication
gated, transmembrane (mitochondria), vesicular
74
SRP
signal recognition particle - triggers translation into ER lumen
75
Beta Thalasemia
defect in hemoglobin due to error in splicing
76
GEF GAP
turns GTPase on (GDP -\> GTP) turns GTPase off (GTP -\> GDP)
77
vesicle fusion proteins
Rab (GTPase --\> pulls Rab off so snares can be pulled open), v-Snare, t-Snare (NSF ATPase pulls apart)
78
Tay-Sachs
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
Fabry's
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
Glycogen Storage Disease 1a
(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
Galactosemia
GALT can't convert Gal1P to UDPGal --\> galactitol accumulates in neurons, liver, optic lens --\> jaundice, brain damage, cataracts
82
Hereditary Fructose Intolerance
Aldose B defective (F1P to glyceraldehyde3P) hypoglycemia, hepatomegaly, weakness and fatigue when kid starts drinking juice
83
Congenital HyperInsulinism due to Glutamate Dehydrogenase Mutation
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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