Module 3 Flashcards
I-cell disease affected enzyme (Dr. R)
N-Acetylglucosamine-1-phosphotransferase (missing mannose-6-phosphate tag)
I-cell disease biomarker (Dr. R)
Elevated lysosomal enzymes in plasma (inclusion bodies)
I-cell disease symptoms (Dr. R)
Coarse facial features
Developmental delay
Skeletal abnormalities
Restricted joint movement
Enlarged liver and spleen
Gaucher disease affected enzyme (Dr. R)
Glucocerebrosidase
Gaucher disease biomarker (Dr. R)
Elevated chitotriosidase
Gaucher disease symptoms (Dr. R)
Enlarged liver and spleen
Bone pain
Fatigue
Bruising and bleeding
Lung disease
Growth retardation
Fabry disease affected enzyme (Dr. R)
Alpha-galactosidase A
Fabry disease biomarker (Dr. R)
Elevated globotriaosylceramide (ceramide trihexoside)
Fabry disease symptoms (Dr. R)
Pain in hands and feet
Kidney problems
Heart issues
Angiokeratomas
Corneal opacities
Gastrointestinal problems
Tay-Sachs disease affected enzyme (Dr. R)
Hexosaminidase A
Tay-Sachs disease biomarker (Dr. R)
Elevated GM2 ganglioside
Tay-Sachs disease symptoms (Dr. R)
Progressive neurological deterioration
Cherry-red spot-on macula
Seizures
Muscle weakness
Vision and hearing loss
Developmental delay
Krabbe disease affected enzyme (Dr. R)
Galactocerebrosidase
Krabbe disease biomarker (Dr. R)
Galactocerebroside, psychosine
Krabbe disease symptoms (Dr. R)
Peripheral neuropathy
Destruction of oligodendrocytes
Developmental delay
Optic atrophy
Globoid cells
Niemann-Pick disease affected enzyme (Dr. R)
Sphingomyelinase
Niemann-Pick disease biomarker (Dr. R)
Elevated sphingomyelin
Niemann-Pick disease symptoms (Dr. R)
Enlarged liver and spleen
Neurological decline
Ataxia
Interstitial lung disease
Feeding difficulties
Failure to thrive
MLD affected enzyme (Dr. R)
Arylsulfatase A
MLD biomarker (Dr. R)
Elevated sulfatides
MLD symptoms (Dr. R)
Progressive neurological decline
Motor function loss
Behavioral changes
Seizures
Peripheral neuropathy
Hurler syndrome affected enzymes (Dr. R)
Alpha-L-iduronidase
Hurler syndrome biomarker (Dr. R)
Elevated dermatan sulfate and heparan sulfate
Hurler syndrome symptoms (Dr. R)
Developmental delay
Skeletal abnormalities
Airway obstruction
Corneal clouding
Hepatosplenomegaly
Hunter syndrome affected enzymes (Dr. R)
Iduronate-2-sulfatase
Hunter syndrome biomarker (Dr. R)
Absence of plasma iduoronate-2-sulfatase
Elevated urinary glycosaminoglycan
Hunter syndrome symptoms (Dr. R)
Mild Hurler plus aggressive behavior
Hepatosplenomegaly
What is a sphingolipid
A lipid molecule with a long-chain or sphingoid base that may be linked to a fatty acid via an amide bond
What is a mucopolysaccharide
A polysaccharide formed by repeated disaccharides
Examples of mucopolysaccharide
Glycosaminoglycans (GAG’s) (hyaluronic acid, chondroitin/dermatan/heparin/keratan sulfate)
Proteoglycans (aggrecan, decorin)
Examples of sphingolipids
Glycosylceramide
Non autosomal recessive LSD’s
Fabry disease
Hunter syndrome
Sphingolipidosis diseases
Tay-Sachs (GM2 Type A)*
Sandhoff (GM2 Type O) Activator deficiency (GM2 Type AB)
Niemann-Pick (A, B, C)*
Gaucher (1, 2, 3)*
Fabry (Classic, Adult)*
Metachromatic leukodystrophy (MLD)*
Krabbe (Globoid leukodystrophy)*
GM1 gangliosidosis (1, 2, 3)
Multiple sulfatase deficiency
Oligosaccharide diseases
Alfa mannosidiosis
Schindler disease
Aspartylglusocaminuria
Fucosidosis
Mucopolysaccharidosis syndromes
Hurler*
Scheie
Hurler-Scheie
Hunter*
San Filippo (A, B, C, D)
Morquio (A, B)
Maroteaux-Lamy
Sly
Neuronal ceroid lipofuscinosis disorders
CLN1 - CLN14
V. sialic acid
Galactosialidosis diseases
Infantile sialic acid storage
Salla
Sialuria
Mucolipidosis diseases
Sialidosis I and II (mucolipidois I)
I-cell (mucolipidois II)*
Psuedo-Hurler-Polydystrophy (mucolipidois III)
Mucolipidois IV
Miscellaneous LSD’s
Lysosomal acid lipase deficiency (Infant, Child, Adult) (cholesterols, triglycerides)
Pompe (Glycogen type II)
Danon (Glycogen)
Cystinosis (Cystine)
What happens when eIF-2 is phosphorylated
Inactivated
What is a nuclear signal and where is it located in the protein
Short, basic, and internally
What is a mitochondrial signal and where is it located
N-terminal, amphipathic, alpha-helix entry sequence
What is a peroxisomal signal and where is it located
C-terminus tripeptide signal
What amino acids have phosphorylation occur
Serine*
Threonine
Tyrosine
What amino acids have glycosylation occur
Asparagine
Arginine
Cysteine
Glutamine
Hydroxylysine
Hydroxyproline
Serine*
Threonine*
Tryptophan
Tyrosine
What amino acids have hydroxylation occur
Proline
Lysine
(Vitamin C dependent hydroxylases)
Where does N-glycosylation occur
Rough ER
Where does O-glycosylation occur
Golgi
What molecule signals transport of N-glycosylated acid hydrolases for lysosomes
Mannose-6-phosphate
What amino acid have carboxylation occur
Glutamate (Vitamin K dependent carboxylases)
What amino acids are biotinylated
Epsilon-amino groups of lysine
What amino acid is farnesylated
Cysteine
What is a peroxisomal importomer
Tripeptide sequence on C-terminus indicating peroxisome destination
What is the cause of Zellweger syndrome
Peroxisome formation defects
What is the cellular stress response
UPR (Unfolded Protein Response)
What is the UPR pathway
Stress
PERK represses mRNA by phosphorylating eIF-2
P-IRE1 recruits tumor necrosis factor (TNF) receptor associated factor 2 (TRAF2) to activate kinases
Activated JNK phosphorylates activator protein 1 (AP1)
Activated IKK phosphorylates IB
Activated NF-B and AP1 enter nucleus inducing inflammatory genes
Diseases related to UPR overreaction
Creutzfeldt-Jakob
Alzheimer
Parkinson
Huntington
Atherosclerosis
Obesity
Diabetes type II
Neurodegenerative diseases
Movement from ER to Golgi is mediated by
COP II
Movement from Golgi back to ER is mediated by
COP I
What is the retrieval signal between ER and Golgi
KDEL
What is the final glycan released by the Golgi
4 GlcNAc
3 Mannose
2 Galactose
2 Sialic acid
What surrounds M6P containing vessicles
Clathrin
Golgi functions
Synthesis and loading of lysosomes
Recycle plasma membrane
Modify glycoproteins and hormones from RER
O-linked glycosylation
Modified phosphorylation
Lysosome funcitons
Degrade cellular debris
Maintain macromolecules
What are multivesicular bodies
endosomal compartments that sort ubiquitinated membrane proteins by incorporating them into vesicles
MVB proteins that incorporate vesicles
ECRT I–III. (Vps4p is an AAA‐type ATPase also involved)
Classifications of endosomes
Early
Sorting
Late
What does SNARE protein mean
Soluble N-ethylmaleimide-sensitive factor Attachment Receptor Protein
Example of a SNARE protein
Sec22 - associated with atherosclerosis and Alzheimer disease
What is the secretion process called of continuous release vesicles
Constitutive secretion
What is the secretion process called of discontinuous release vesicles
Regulated secretion
Relationship between autophagy and aging
Decreased removal of aggregated proteins
Relationship between autophagy and cancer
Attacks tumor cell growth in early stages
Defends in later stages
Relationship between autophagy and diabetes and obesity
Decrease in adiposity
Insulin resistance
Relationship between autophagy and neurodegeneration
Decreased removal of neuronal aggregated proteins