Biochem UWorld Flashcards

1
Q

Collagenases are what kind of enzyme

A

MMP matrix metalloproteinases

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2
Q

Marfan’s gene

A

Fibrillin-1 gene

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3
Q

The PI3K/Akt/mTOR pathway

A

anti-apoptosis, cellular proliferation, and angiogenesis. mutations in these lead to cancer pathogenesis

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4
Q

IP3

A

activates Protein Kinase C

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5
Q

Branched chain fatty acids undergo what for breakdown

A

Alpha-oxidation

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6
Q

problems with ubiquitin-proteasome system can lead to

A

Parkinson and Alzheimer’s

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7
Q

Mousy odor in a child with fair colored features

A

Phenylketonuria. Tyrosine is an essential enzyme because they can’t make it from phenylalanine anymore. Can’t produce melanin either.

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8
Q

PKU caused by

A

mutation in phenylalanine hydroxylase enzyme

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9
Q

Nitrates in diet do what to DNA

A

deaminate cytosines, adenines, and guanines

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10
Q

In base excision repair….

A

AP endonuclease cleaves 5’ side before lyase cleaves 3’ side

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11
Q

Iron deficient anemia can present with

A

Dysphagia (esophageal webs) and dysfigured fingernails (spoon nails (koilonychia))

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12
Q

Plummer-Vinson or Patterson Kelly syndrome

A

Iron deficiency anemia with dysphagia from esophageal webs??

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13
Q

Pernicious anemia classic presentation

A

Older, mentally slow woman of northern European descent who is “lemon colored” (anemic and icteric) with a smooth shiny tongue of atrophic glossitis and a broad shuffling gait.

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14
Q

Cobalamin deficiency path

A

Homocystinemia due to impaired methionine re-synthesis.

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15
Q

Maturing erythrocytes lose the ability to synthesize heme when what happens…

A

When they lose their mitochondria

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16
Q

HbC is made of what

A

Lysine instead of glutamate residue so the Hb molecule is more positive and does not electrophorese as far compared to even HbS (valine is nonpolar)