The development of the reprogramming technology led to generation of induced Pluripotent
Stem Cells (iPSC) from a variety of somatic cells. Ever since, fast growing knowledge of …

Parkinson's disease (PD) is an aging-related movement disorder mainly caused by a
deficiency of neurotransmitter dopamine (DA) in the striatum of the brain and is considered …

The phenylalanine–tyrosine–dopa–dopamine pathway provides dopamine to the brain. In
this process, tyrosine hydroxylase (TH) is the rate-limiting enzyme that hydroxylates tyrosine …

The derivation of human embryonic stem cells (hESCs) and the stunning discovery that
somatic cells can be reprogrammed into human induced pluripotent stem cells (hiPSCs) …

Cell therapy is one of the newest therapeutic approaches for treating tissue destruction
diseases and replacing damaged parts in defective tissues. Among different cells …

The advent of human-induced pluripotent stem cell (hiPSC) technology has provided a
unique opportunity to establish cellular models of disease from individual patients, and to …

A major hallmark of Parkinson's disease is loss of dopaminergic neurons in the substantia
nigra pars compacta (SNpc). The pathophysiological mechanisms causing this relatively …

Neurotransmitter deficiencies are rare neurological disorders with clinical onset during
childhood. The disorders are caused by genetic defects in the enzymes involved in …

Currently, one of the main challenges in human molecular genetics is the interpretation of
rare genetic variants of unknown clinical significance. A conclusive diagnosis is of …

Tetrahydrobiopterin (BH 4) deficiency is caused by genetic variants in the three genes
involved in de novo cofactor biosynthesis, GTP cyclohydrolase I (GTPCH/GCH1), 6-pyruvoyl …