Abstract Cholesterol 7 alpha-hydroxylase (CYP7A1, EC1. 14) is the first and rate-limiting
enzyme in the classic bile acid synthesis pathway. Much progress has been made in …

Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited
disorders in which lower extremity weakness and spasticity are the predominant symptoms …

Abstract The cytochrome P450 (P450) enzymes first attracted interest because of their
relevance to the metabolism of drugs, steroids, and carcinogens. Collectively, the 57 human …

Abstract Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia,
a highly heterogeneous group of neurodegenerative disorders defined by progressive …

Most of the known enzyme deficiencies of bile acid synthesis affect both the 27-
hydroxycholesterol and the 7α-hydroxycholesterol pathways; the exceptions are cholesterol …

Hereditary spastic paraplegia (HSP) refers to inherited disorders in which spastic gait is
either the only feature or is a major syndrome feature. There are more than 70 genetic types …

Hereditary spastic paraplegias (HSP) are a large group of genetic diseases characterized by
progressive degeneration of the long tracts of the spinal cord, namely the corticospinal tracts …

The CYP7B1 cytochrome P450 enzyme hydroxylates carbons 6 and 7 of the B ring of
oxysterols and steroids. Hydroxylation reduces the biological activity of these substrates and …

Cholestenoic acids are formed as intermediates in metabolism of cholesterol to bile acids,
and the biosynthetic enzymes that generate cholestenoic acids are expressed in the …

Cholesterol is an essential component of both the peripheral and central nervous systems of
mammals. Over the last decade, evidence has accumulated that disturbances in cholesterol …