Christine Bus
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View article: Ex vivo proton spectroscopy (<sup>1</sup>H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses
Ex vivo proton spectroscopy (<sup>1</sup>H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses Open
There are about 1500 genetic metabolic diseases. A small number of treatable diseases are diagnosed by newborn screening programs, which are continually being developed. However, most diseases can only be diagnosed based on clinical sympto…
View article: Human Dopaminergic Neurons Lacking PINK1 Exhibit Disrupted Dopamine Metabolism Related to Vitamin B6 Co-Factors
Human Dopaminergic Neurons Lacking PINK1 Exhibit Disrupted Dopamine Metabolism Related to Vitamin B6 Co-Factors Open
View article: PINK1 Regulates Dopamine and Lipids at Mitochondria to Maintain Synapses and Neuronal Function
PINK1 Regulates Dopamine and Lipids at Mitochondria to Maintain Synapses and Neuronal Function Open
Mitochondrial dysfunction contributes to the pathogenesis of Parkinson’s disease but it is not clear why inherent mitochondrial defects lead specifically to the death of dopaminergic neurons of the mid brain. PINK1 is mitochondrial kinase …
View article: Generation of iPSCs carrying a common LRRK2 risk allele for in vitro modeling of idiopathic Parkinson's disease
Generation of iPSCs carrying a common LRRK2 risk allele for in vitro modeling of idiopathic Parkinson's disease Open
Induced pluripotent stem cells (iPSCs) have recapitulated several aspects of Parkinson's disease (PD), but most iPSCs are derived from familial cases, which account for only about 15% of patients. Thus, while the emphasis has justifiably b…
View article: Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson’s disease
Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson’s disease Open
The mitochondrial proteins TRAP1 and HTRA2 have previously been shown to be phosphorylated in the presence of the Parkinson's disease kinase PINK1 but the downstream signalling is unknown. HTRA2 and PINK1 loss of function causes parkinsoni…
View article: Generation of induced pluripotent stem cells derived from a 77-year-old healthy woman as control for age related diseases
Generation of induced pluripotent stem cells derived from a 77-year-old healthy woman as control for age related diseases Open
Induced pluripotent stem cells (iPSCs) hold great promise to model diseases, where the disease affected cell type is difficult to access. A major obstacle for the development of disease models is the lack of well characterized control iPSC…