Uwe Wolfrum Selected Research

Usher Syndromes (Usher Syndrome)

1/2019	SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins.
1/2017	Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.
2/2016	Impact of the Usher syndrome on olfaction.
9/2014	Translational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations.
8/2014	Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
1/2014	Usher syndrome protein network functions in the retina and their relation to other retinal ciliopathies.
9/2013	The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.
6/2012	Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination.
10/2011	Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina.
2/2009	Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.

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Uwe Wolfrum Research Topics

Disease

19	Usher Syndromes (Usher Syndrome) 01/2019 - 02/2005
13	Ciliopathies 01/2021 - 01/2009
11	Retinal Degeneration 01/2021 - 04/2003
10	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2019 - 01/2007
6	Retinal Dystrophies 01/2020 - 01/2014
5	Infections 01/2021 - 06/2008
4	Leber Congenital Amaurosis 01/2015 - 07/2007
4	Blindness (Hysterical Blindness) 09/2013 - 12/2002
3	Deafness (Deaf Mutism) 01/2019 - 05/2002
2	Glaucoma 01/2020 - 10/2015
2	Ganglion Cysts (Ganglion) 01/2020 - 01/2003
2	Agenesis of Cerebellar Vermis 12/2015 - 07/2007
2	Neurodegenerative Diseases (Neurodegenerative Disease) 08/2015 - 10/2010
2	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 01/2014 - 12/2013
2	Hearing Loss (Hearing Impairment) 02/2009 - 03/2006
1	Necrosis 01/2020
1	Respiratory Syncytial Virus Infections 12/2019
1	Inborn Genetic Diseases (Disease, Hereditary) 04/2016
1	Protein Deficiency 02/2016
1	Peroxisome biogenesis disorders 02/2016
1	Leukoencephalopathies 02/2016
1	Myopia 12/2015
1	High Hyperopia 12/2015
1	Macular Degeneration (Age-Related Maculopathy) 10/2015
1	Optic Nerve Diseases (Optic Neuropathy) 10/2015
1	Huntington Disease (Huntington's Disease) 08/2015
1	Obesity 03/2014
1	type 1C Usher syndrome 01/2014
1	Kidney Diseases (Kidney Disease) 01/2014
1	Type Ib Usher Syndrome 09/2013
1	Situs Inversus 08/2013
1	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy) 01/2013
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2013
1	Neoplasms (Cancer) 12/2012
1	Cone Dystrophy 10/2012
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 10/2010
1	type 1D Usher syndrome 09/2009
1	Eye Diseases (Eye Disease) 08/2007
1	Senior Loken Syndrome 07/2007
1	Autosomal Recessive 31 Deafness 03/2006

Drug/Important Bio-Agent (IBA)

39	Proteins (Proteins, Gene)FDA Link 01/2021 - 05/2002
17	Retinaldehyde (Retinal)IBA 01/2021 - 05/2002
5	Myosin VIIaIBA 09/2013 - 05/2002
4	Cadherins (E-Cadherin)IBA 09/2009 - 12/2002
3	Rhodopsin (Visual Purple)IBA 01/2015 - 04/2011
3	Protein Isoforms (Isoforms)IBA 04/2012 - 01/2009
2	Antiviral Agents (Antivirals)IBA 01/2021 - 08/2010
2	Caspase 3 (Caspase-3)IBA 01/2020 - 04/2003
2	Small Interfering RNA (siRNA)IBA 01/2020 - 12/2019
2	Nonsense Codon (Nonsense Mutation)IBA 04/2016 - 09/2014
2	polyglutamineIBA 08/2015 - 10/2010
2	RNA Precursors (Precursor, mRNA)IBA 08/2015 - 08/2013
2	Zinc Finger NucleasesIBA 01/2014 - 06/2012
2	Messenger RNA (mRNA)IBA 09/2009 - 01/2003
1	Peptide Hydrolases (Proteases)FDA Link 01/2021
1	Capsid Proteins (Capsid Protein)IBA 01/2021
1	Beclin-1IBA 01/2021
1	GalactokinaseIBA 01/2021
1	PhosphoproteinsIBA 01/2021
1	AntibodiesIBA 01/2020
1	Caspase 2IBA 01/2020
1	Immunoglobulin G (IgG)IBA 01/2020
1	InterferonsIBA 12/2018
1	Phytanic AcidIBA 02/2016
1	myosin VIIBA 10/2015
1	UbiquitinIBA 08/2015
1	Proteasome Endopeptidase Complex (Proteasome)IBA 08/2015
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 08/2015
1	aryl hydrocarbon receptor-interacting proteinIBA 01/2015
1	TubulinIBA 05/2014
1	atalurenIBA 01/2014
1	AminoglycosidesIBA 01/2014
1	Phorbol EstersIBA 12/2013
1	SpectrinIBA 09/2013
1	Carrier Proteins (Binding Protein)IBA 08/2013
1	RNA (Ribonucleic Acid)IBA 08/2013
1	ADP-Ribosylation Factors (ADP-Ribosylation Factor)IBA 08/2013
1	Electron Transport Complex I (NADH-CoQ Reductase)IBA 01/2013
1	Biological ProductsIBA 12/2012
1	rat Pde4dip proteinIBA 10/2011
1	Cyclic NucleotidesIBA 03/2011
1	Nuclear Proteins (Protein, Nuclear)IBA 03/2011
1	Arginine (L-Arginine)FDA Link 03/2011
1	Serine (L-Serine)FDA Link 03/2011
1	Type I DNA Topoisomerases (Topoisomerase I)IBA 03/2011
1	GTPase-Activating Proteins (GTPase-Activating Protein)IBA 04/2010
1	VaccinesIBA 06/2008
1	GTP Phosphohydrolases (GTPases)IBA 01/2007
1	NeuroglobinIBA 01/2003

Therapy/Procedure

6	Therapeutics 01/2020 - 01/2013
1	Intraocular Injections 01/2013