Diseases
This condition is a subset of Primary Ciliary Dyskinesia (PCD) characterized by bronchiectasis, infertility, and situs inversus due to disrupted dynein arms
Kartagener syndrome
These two motor proteins drive vesicular transport along a microtubule "railroad"; one moves anterograde toward the plus (+) end, while the other moves retrograde toward the minus
DAILY DOUBLE!!!!!!!!
Kinesin & Dynein
This peroxisomal enzyme catalyzes the final two steps of purine catabolism, turning xanthine into uric acid; its overactivity leads to the painful arthritis known as gout
Xanthine oxidase
These specialized indentations of lipid rafts are coated with cavin and caveolin proteins and serve a unique function in cellular "mechanosensing"
This "cell maintenance" process begins with the formation of an isolation membrane (phagophore) that expands to create a double-membrane vesicle before fusing with a lysosome to release recycled amino and fatty acids
Autophagy
This "Zellweger spectrum" disorder results from mutations in the ABCD1 gene, which encodes a transporter protein (ALDP) that fails to move Very Long Chain Fatty Acids (VLCFAs) into the peroxisome for breakdown
X-linked Adrenoleukodystrophy (XALD)
Unlike Colchicine and Vincristine, which prevent polymerization, this drug blocks mitosis by binding to and stabilizing microtubules, preventing the breakdown of the mitotic spindle
Paclitaxel (Taxol)
This specialized membrane protein uses the energy from ATP hydrolysis to maintain a luminal environment between pH 4.5 and 5.0, a prerequisite for the dissociation of M6P receptors and the activation of more than 40 different enzymes
V-type ATPase
Within secretory vesicles, this specific biochemical process involving resident proteases allows a "pro-segment" to be cut off so a cargo protein, like insulin, can assume its final form
Proteolysis
While most lipids are synthesized in the SER, peroxisomes are exclusively responsible for the initial steps of producing these ether-type phospholipids, which constitute up to 90% of the myelin membrane
Plasmalogens
This most severe form of mucolipidosis is caused by a deficiency in Golgi N-acetylglucosamine phosphotransferase, which prevents the formation of the M6P tag on acid hydrolases, causing them to be secreted extracellularly instead of reaching the lysosome
I-cell disease
Unlike microtubules and actin, intermediate filaments are built from this non-polar structural unit consisting of two coiled-coil dimers packed in an antiparallel fashion
Staggered tetramer
This histological finding, which gives cells a frayed appearance, is caused by a massive aggregation of mitochondria at the plasma membrane
Ragged red muscle fibers
This specific class of LDL-Receptor mutation is characterized by receptors that are synthesized and transported correctly but fail to cluster on the cell surface, leading to ineffective endocytosis
Class IV mutation
These pigmented, indigestible lipid granules, also known as "age pigments," represent the end-stage condensation of residual bodies when a lysosome is unable to further degrade its content
Lipofuscin
This rare, life-threatening autosomal recessive disorder involves a mutation in the CHS1/LYST gene, leading to delayed fusion of the phagosome with the lysosome and presenting with silvery hair, light sensitivity, and recurrent infections
Chédiak-Higashi syndrome
This specific class of intermediate filament provides mechanical strength to astrocytes and is a key marker used to determine the origin of glial tumors
Glial fibrillary Acidic Protein (GFAP)
These cellular structures result from the accumulation of undigested substrates in I-cell disease
Inclusion bodies
Phagocytosis is triggered by these specific proteins—such as antibodies (Fc) or complement proteins—that coat a foreign particle to mark it for ingestion
Opsonins
In the peroxisomal import cycle, this specific cytosolic receptor binds to the C-terminal SKL signal sequence of cargo proteins, docks with the PEX13/14 complex, and is eventually pulled back into the cytosol by a hexameric AAA ATPase
These two diseases share the exact same mutation in the ATPase 6 gene of Complex V, with the clinical outcome determined solely by the degree of heteroplasmy
DAILY DOUBLE!!!!
NARP & Maternally-inherited Leigh Syndrome(MILS)
While mutations in Keratins 5 and 14 lead to Epidermolysis Bullosa Simplex, a mutation in these specific keratins results in Epidermolytic Hyperkeratosis, characterized by red skin and blisters at birth followed by chronic thickening and scaling
DAILY DOUBLE!!!!
Keratin 1 and 10
This clinical sign, often the first indicator of a tetanus infection, is characterized by a "lockjaw" state due to masseter muscle rigidity
Trismus
In epithelial cells, proteins destined for this specific membrane surface are often GPI-linked or have long transmembrane domains that allow them to associate with lipid rafts
Apical surface
In the most common peroxisomal disorder (XALD), a mutation in the ABCD1 gene results in a defect of this specific membrane component, preventing the entry of very long chain fatty acids (VLCFAs) into the organelle
peroxisomal ABC transporter protein (or ALDP)