Copper bio Flashcards by Andrew DiStasio

AA affinity of Cu+

Cysteine and Methionine

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AA affinity of Cu2+

Aspartic Acid, Glutamic Acid, Histidine

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Principle which explains why Copper can displace other 1st row transition metals in complexes

Irving-Williams series

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Two cuproporteins which shuttle to the nucleus and act as TFs

MTF1 and ATOX1

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binding element with which MTF1 interacts

MRE

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chaperone delivering Cu to the P-type ATPases

ATOX1 antioxidant 1 copper chaperone

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cuproprotein responsible for upregulating cyclin D and promoting S phase entry

ATOX1 antioxidant 1 copper chaperone

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A treatment for Wilsons disease, Ammonium tetrathiomolybdate complexes with ____ which has unknown consequences

ATOX1 antioxidant 1 copper chaperone

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Regulates copper homeostasis by interacting with 26S proteasome

CCS Copper Chaperone for Superoxide dismutase

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CCS is a copper chaperone for ___

superoxide dismutase SOD1

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cuproproteins localized to the golgi membrane, rich in thioles

metallothioneins MTs

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Copper importer mutated in Huppke Brendal syndrome

SLC33A1 (COPT1) copper transporter 1

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mediates ATP7A/B translocation in response to Cu changes, which is disrupted in Huppke Brendal

SLC33A1 (COPT1) copper transporter 1

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3 TMEM domain proteins which localize to apical side of epithelial cells to help absorb copper

SLC33A1/2 (COPT1/2)

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Cupric enzyme in catecholamine synthesis pathway

Dopamine Beta Monooxygenase DBH

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Dopamine beta monooxygenase uses what cofactor

ascorbic acid

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amine oxidases using copper

LOX AOC1-3

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redox cofactor of amine oxidases

topaquinone TPQ

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cupric vascular adhesion protein (also enzyme)

AOC3 amine oxidase copper containing 3

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main enzyme responsible for digestion of ingested histamine

AOC1 amine oxidase copper containing 1

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cupric enzyme participating in decidualization of endometrium before implantaion

AOC1 amine oxidase copper containing 1

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cupric enzyme targeted by mAbs to treat immune disease

AOC3 amine oxidase copper containing 3

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cupric enzyme cleaved by BMP-1 in the extracellular space in order to mature

LOX lysyl oxidase

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LOX function

crosslinks ECM proteins

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cupric enzyme inhibiting keratinocyte differentiation

LOXL2 lysyl oxidase like 2

large TMEM cuproprotein at the last steps of the respiratory chain

COX CcO cytochrome c oxidase

3 subunits mtDNA the rest nuclear

COX CcO cytochrome c oxidase

converts 2O2- into H202 and O2

SOD superoxide dismutase

cupric enzyme preventing ROS in the extracellular fraction

SOD3 superoxide dismutase 3

cuproprotein which causes crosslinking by oxidizing phenolic substrates

laccase LACC1

cuproprotein complexed with fatty acid synthase on peroxisomes

Laccase LACC1

cuproprotein regulating the bioenergetic state of macrophages

Laccase LACC1

crosslinked by LOX

collagen and elastin

LOX converts ___ into highly reactive ___

lysines into highly reactive aldehydes

LOX inhibitor

beta aminopopionitrile BAPN

major Cu chaperone in the circulation

Ceruloplasmin CP

a decrease of this serum Cuproprotein is diagnostic of wilson's disease

Ceruloplasmin CP

number of Cu on Ceruloplasmin CP

in serum, oxidizes Fe to Fe(III) allowing transferrin to carry it

Ceruloplasmin CP

Serum levels decrease in Cu deficiency, menkes disease or wilsons disease

Ceruloplasmin CP

Mechanism by which CP is decreased in Cu deficiency

fast turnover of apoprotein

transmembrane ferroxidase transporting Fe from enterocytes into circulation

Hephaestin HEPH

rate-limiting enzyme of melanin synthesis, Cu protein

Tyrosinase

single TMEM, glycoprotein coordinating 2 Cu, hydroxylates phenols and converts to quinone

Tyrosinase

Organ which doesn't express ATP7A

Liver

ATP7A protects against excitotoxicity by releasing intracellular Cu stores in response to ______ activation

N-methyl-d-aspartate receptor NMDAR

Phenotypic effects of COX dysfunction

intracerebral lactic acidosis; CNS degeneration; Ataxia

Phenotypic effects of dopamine beta hydroxylase dysfunction

hypothermia, hypotension, diarrhea

Phenotypic effects of lysyl oxidase LOX dysfunction

hematoma, emphysema, petechiae, arterial defects

Phenotypic effects of sulfhydryl oxidase QSOX1/2 dysfunction

Bladder diverticula, hernia, hair abnormalities

Phenotypic effects of superoxide dismutase SOD dysfunction

CNS degeneration

organs with the highest copper concentrations in healthy adults

Liver, kidney

amount of copper in the system of a healthy adult

110mg

percentage of ingested copper normally absorbed

30-40%

Year and location of Menkes original publication

1962 at Columbia University in New York

Australian who discovered copper's role in MD

David Danks

David Danks' findings that led him to hypothesize copper for MD

Similarity of hair to Cu-deficient wool; Cu buildup in duodenal mucosa

Cu enzyme responsible for keratin crosslinking

QSOX1/2 sulfhydryl oxidase

three proteins carrying copper in circulation

ceruloplasmin, transcuperin, albumin

organ which does not express ATP7A

liver

localization of ATP7A in most polarized cell types

basolateral

localization of ATP7A in choroid plexus epithelium

apical

What ATP7A complexes with in the CSF

Albumin and histidine

two names of alternative receptor (besides CTR/Slc33A1) delivering copper into the cell

divalent metal transporter DMT1; SLC11A2

caused by ATP7A defects in the absence of systemic copper issues

distal motor neuropathy

number of exons in human ATP7A

total size of ATP7A gene

140kb

Where ATP7A diverges from homology with ATP7B

5' third of gene

approximate number of AA in ATP7A protein

1500

percentage breakdowns of different types of ATP7A mutations identified in patients

22% indels, 22% duplications, 17% missense, 18% nonsense, 18% splicing defects

region of ATP7A most often pathogenically mutated

exon 7-10

2 ATP7A mutations amenable to early copper treatment

Gly666Arg; Gly727Arg

Common bone issues of MD

pectus excavatum, pectus carinatum, wormian bones in the skull, osteopenia, spontaneous fracture of long bones

age of onset for neurological regression in MD

6-8 weeks

seizure phenotype of early stage MD

focal seizures progressing into status epilepticus

Seizure phenotype of intermediate stage MD

epileptic spasms including west syndrome; hypsarrhythmia

Seizure phenotype of late stage MD

multifocal, tonic spasms, myoclonus

MD phenotype in gray matter

neuron loss and gliosis

MD phenotype in basal ganglia

cystic infarction

MD phenotype in cerebellum

Purkinje cell loss

vascular abnormalities in cerebral arteries of MD

thin walled, erratic, tortuous

defect bringing most OHS patients into clinic

bladder diverticula

Low to borderline normal intellectual ability, muscular hypotonia, bladder diverticula

OHS

name of zebrafish ATP7A mutant line

calamity

mouse lines with ATP7A mutations surviving until early postnatal development

viable-brindled, blotchy

Copper bio Flashcards

(85 cards)