Nina Horn Selected Research

Menkes Kinky Hair Syndrome (Menkes Disease)

4/2021	ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle.
1/2019	Chelating principles in Menkes and Wilson diseases: Choosing the right compounds in the right combinations at the right time.
11/2011	Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.
10/2009	Molecular diagnosis of Menkes disease: genotype-phenotype correlation.
1/2008	Mutation Detection in the Menkes Gene ATP7A Using the Protein Truncation Test.
8/2006	Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.
1/2004	X-linked Menkes disease: first documented report of germ-line mosaicism.
12/2003	Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.

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Nina Horn Research Topics

Disease

8	Menkes Kinky Hair Syndrome (Menkes Disease) 04/2021 - 12/2003
2	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2011 - 10/2009
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 04/2021
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2019
1	Hepatolenticular Degeneration (Wilson's Disease) 01/2019

Drug/Important Bio-Agent (IBA)

7	CopperIBA 04/2021 - 12/2003
2	EnzymesIBA 04/2021 - 01/2019
1	SteroidsIBA 04/2021
1	SulfatasesIBA 04/2021
1	Chelating AgentsIBA 01/2019
1	Thioctic Acid (Lipoic Acid)IBA 01/2019
1	ThiocarbamatesIBA 01/2019
1	copper histidineIBA 01/2019
1	Adenosine Triphosphatases (ATPase)IBA 10/2009
1	DNA (Deoxyribonucleic Acid)IBA 01/2004

Therapy/Procedure

1	Therapeutics 01/2019