Human cytochrome P450 (CYP) enzymes are widely known for their pivotal role in the
metabolism of drugs and other xenobiotics as well as of endogenous chemicals. In addition …

Motor neuron diseases (MNDs) encompass an extensive and heterogeneous group of
upper and/or lower motor neuron degenerative disorders, in which the particular clinical …

Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders.
Understanding of their pathogenic mechanisms remains sparse, and therapeutic options are …

With more than 80 cytochrome P450 (CYP) encoding genes found in the nematode
Caenorhabditis elegans (C. elegans), the cyp35 genes are one of the important genes …

Many conditions can present with accumulation of calcium in the brain and manifest with a
variety of neurological symptoms. Brain calcifications can be primary (idiopathic or genetic) …

Hereditary spinocerebellar degeneration (SCD) encompasses an expanding list of rare
diseases with a broad clinical and genetic heterogeneity, complicating their diagnosis and …

This chapter provides a comprehensive overview of adult-onset leukoencephalopathies with
cerebral calcification (CC), emphasizing the importance of age at presentation, systemic …

Progesterone receptor membrane component 1 (PGRMC1) is one of few proteins that have
been recently described as direct modulators of the activity of human cytochrome P450 …

Orphan cytochromes P450 (CYP) are enzymes whose biological functions and substrates
are unknown. However, the use of new experimental strategies has allowed obtaining more …

Purpose Pseudoxanthoma elasticum (PXE) is a recessive disorder involving skin, eyes and
arteries, mainly caused by ABCC6 pathogenic variants. However, almost one fifth of patients …