Test 19- BC Flashcards
Non-essential glucogenic AA that can b e transaminated for form pyruvate
Alanine
Serine
Def that impairs glutathione reduction d/t failure to produce NADPH
G6PD def
Deficiency in which erythrocyte enzyme may cause periodic hemolysis similar to G6PD def?
Glutathione reductase def
Keeps glutathione reduced allowing for the detoxificaiton of free radicals and perioxides
Glutathione reductase
Elastin-associated glycoprotein in the:
zonular fibers of the lens
periosteum
aortic media
MarFANs syndrome
Fibrillin-1 is a major component of microfibrils that form a sheath around elastin fibers.
Impaired osteoclastic bone resorption leading to increased bone thickness and density. Osteoblast fxn normal.
Osteopetrosis
HLA-B27 positive arthritis that leads to fusion of hte spine and sacroiliac joints, and arthritis in the ips, shoulders and costochondroal joints
Ankylosing spondylitis
Defect in hte formation of type III collagen molecules.
EDS
Defect in FGFR 3 gene> abnormal condrocyte proliferation at the growth plates of long bones
Acondroplasia> dwarfism
Synthesizes majority of rRNA in the nucleolus
RNA pol I
Enzyme responsible for DNA replication and repair. Found throughout the nucleus
DNA Pol
Synthesizes mRNA, sn RNA and miRNA
RNA II (MASSIVE RNA)
makes tRNA
RNA III
Breaks down the phosphodiester bond w/in the nucleotide chain in DNA and RNA
endonucleases
Failure of glycogenolysis w/ clinical manifestations of decreased exercise tolerance, myoglobinuria and muscle pain w/ activity.
McArdle’s
Myophosphorylase def
What intracellular substance is likely to increase following activation of a G protein dependent phospholipase C?
Ca
phosphoinositol messenger system that leads to an increase in intracellular Ca
GPCR activation>
PLC>
IP3>
PKC
Endocrine hormones that use IP3 for sginaling
GOAT HAG
GnRH Oxytocin ADH (V1) TRH Histamine (H1) Ang II Gastrin