Certain mutations can cause proteins to accumulate in neurons, leading to
neurodegeneration. We recently showed, however, that upregulation of a wild-type protein …

SLC2A3 encodes the predominantly neuronal glucose transporter 3 (GLUT3), which
facilitates diffusion of glucose across plasma membranes. The human brain depends on a …

CD36 is a transmembrane protein involved in fatty acid translocation, scavenging for
oxidized fatty acids acting as a receptor for adhesion molecules. It is expressed on …

The brain is sensitive to the dose of MeCP2 such that small fluctuations in protein quantity
lead to neuropsychiatric disease. Despite the importance of MeCP2 levels to brain function …

The human CYP2C locus harbors the polymorphic CYP2C18, CYP2C19, CYP2C9, and
CYP2C8 genes, and of these, CYP2C19 and CYP2C9 are directly involved in the …

The application of human embryonic stem cell (hESC) derivatives to regenerative medicine
is now becoming a reality. Although the vast majority of hESC lines have been derived for …

Childhood apraxia of speech (CAS) is a debilitating pediatric speech disorder characterized
by varying symptom profiles, comorbid deficits, and limited response to intervention. Specific …

Schizophrenia is a complex mental disorder with high degree of genetic influence in its
etiology. Several recent studies revealed that copy number variations (CNVs) of genomic …

Testicular maturation arrest is characterized by interruption of germ cell development and
differentiation. Genetic factors play important role in the causation of human disease …

In humans, the most common genomic disorder is the hemizygous deletion of the
chromosome 22q11. 2 region, that results in the “22q11. 2 deletion syndrome”(22q11. 2DS) …