TY  - GEN
N2  - Aberrant cholesterol metabolism is thought to play an important role in brain pathophysiology for many neurodegenerative disorders. How sterol metabolism impacts cerebral accumulation of toxic sterol species is not fully characterized. The brain houses 20-25% of total body cholesterol in a de novo synthesized pool unable to traverse the BBB. Formation of 7a-hydroxy-3-oxo-4-cholestenoic acid (7-HOCA) by the sterol 27-hydroxylase (CYP27A1) enzyme is one route of cerebral cholesterol removal, with flux of 7-HOCA demonstrated to occur across the BBB into the periphery. Deficient CYP27A1 activity is associated with cerebrotendinous xanthomatosis (CTX); a rare genetic disorder that can cause irreversible neurological decline associated with formation of cerebellar xanthomas, consisting mostly of cholesterol and a saturated analogue, cholestanol.
DO  - 10.6083/bg257f59s
DO  - DOI
AB  - Aberrant cholesterol metabolism is thought to play an important role in brain pathophysiology for many neurodegenerative disorders. How sterol metabolism impacts cerebral accumulation of toxic sterol species is not fully characterized. The brain houses 20-25% of total body cholesterol in a de novo synthesized pool unable to traverse the BBB. Formation of 7a-hydroxy-3-oxo-4-cholestenoic acid (7-HOCA) by the sterol 27-hydroxylase (CYP27A1) enzyme is one route of cerebral cholesterol removal, with flux of 7-HOCA demonstrated to occur across the BBB into the periphery. Deficient CYP27A1 activity is associated with cerebrotendinous xanthomatosis (CTX); a rare genetic disorder that can cause irreversible neurological decline associated with formation of cerebellar xanthomas, consisting mostly of cholesterol and a saturated analogue, cholestanol.
AD  - Oregon Health and Science University
AD  - Oregon Health and Science University
AD  - Oregon Health and Science University
AD  - Oregon Health and Science University
AD  - Oregon Health and Science University
AD  - Oregon Health and Science University
T1  - Characterizing blood-brain sterol pathways in individuals with deficient sterol 27-hydroxylase (CYP27A1) enzyme activity
DA  - 2020
AU  - Van Grouw, Alexandria
AU  - Damekar, Shraddha
AU  - Merkens, Louise
AU  - Pappu, Anuradha
AU  - Duell, Barton
AU  - DeBarber, Andrea
L1  - https://digitalcollections.ohsu.edu/record/8222/files/Alexandria-Van-Grouw.pdf
PB  - Oregon Health and Science University
PY  - 2020
ID  - 8222
L4  - https://digitalcollections.ohsu.edu/record/8222/files/Alexandria-Van-Grouw.pdf
KW  - Xanthomatosis, Cerebrotendinous
KW  - Blood-Brain Barrier
KW  - Genetic Diseases, Inborn
KW  - cholesterol metabolism
KW  - sterol 27-hydroxylase
KW  - cerebral cholesterosis
KW  - leukodystrophies
TI  - Characterizing blood-brain sterol pathways in individuals with deficient sterol 27-hydroxylase (CYP27A1) enzyme activity
Y1  - 2020
L2  - https://digitalcollections.ohsu.edu/record/8222/files/Alexandria-Van-Grouw.pdf
LK  - https://digitalcollections.ohsu.edu/record/8222/files/Alexandria-Van-Grouw.pdf
UR  - https://digitalcollections.ohsu.edu/record/8222/files/Alexandria-Van-Grouw.pdf
ER  -