Martin Kircher Selected Research

signal sequence receptor

1/2019	Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.
3/2014	A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.

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Martin Kircher Research Topics

Disease

4	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2019 - 04/2013
2	Congenital Disorders of Glycosylation 11/2017 - 01/2016
2	Neoplasms (Cancer) 01/2016 - 11/2011
1	Inborn Genetic Diseases (Disease, Hereditary) 11/2017
1	Brain Diseases (Brain Disorder) 11/2017
1	Hemophilia B (Haemophilia B) 05/2017
1	Hemophilia A (Haemophilia) 05/2017
1	Cutis Laxa 05/2016
1	Nervous System Diseases (Neurological Disorders) 11/2015
1	Complementation Group D1 Fanconi Anemia 02/2015
1	Fanconi Syndrome (Syndrome, Fanconi) 02/2015
1	Anemia 02/2015
1	Breast Neoplasms (Breast Cancer) 02/2015
1	Classical Lissencephalies and Subcortical Band Heterotopias 08/2014
1	Periventricular Nodular Heterotopia 08/2014
1	Polymicrogyria 08/2014
1	Megalencephaly 08/2014
1	Lissencephaly 08/2014

Drug/Important Bio-Agent (IBA)

3	DNA (Deoxyribonucleic Acid)IBA 05/2017 - 08/2014
3	Proteins (Proteins, Gene)FDA Link 01/2016 - 11/2011
2	signal sequence receptorIBA 01/2019 - 03/2014
2	Transferrin (beta 2 Transferrin)IBA 01/2017 - 11/2015
1	Cytidine Monophosphate N-Acetylneuraminic AcidIBA 11/2017
1	SugarsIBA 11/2017
1	NucleotidesIBA 11/2017
1	Vacuolar Proton-Translocating ATPases (V-Type ATPase)IBA 05/2016
1	Cell-Free Nucleic AcidsIBA 01/2016
1	Nucleosomes (Nucleosome)IBA 01/2016
1	LipidsIBA 01/2016
1	Fanconi Anemia Complementation Group ProteinsIBA 02/2015
1	KinesinsIBA 08/2014
1	UDP-galactose translocatorIBA 04/2013
1	Peptides (Polypeptides)IBA 11/2011
1	ProteomeIBA 11/2011