Utz Fischer Selected Research

Small Nuclear Ribonucleoproteins (snRNP)

10/2019	A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.
1/2014	Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosa.
10/2005	Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy.

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Utz Fischer Research Topics

Disease

11	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 11/2021 - 07/2002
3	Infections 01/2022 - 03/2015
3	Neoplasms (Cancer) 01/2022 - 01/2015
3	Vaccinia 01/2022 - 12/2019
3	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2014 - 01/2011
2	Spinal muscular atrophy with respiratory distress 1 01/2018 - 09/2004
2	Fragile X Syndrome (Martin Bell Syndrome) 09/2013 - 10/2008
1	AIDS-Related Complex (ARC) 10/2021
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021
1	COVID-19 01/2021
1	Virus Diseases (Viral Diseases) 01/2021
1	Disease Progression 01/2021
1	Microcephaly 10/2019
1	Neurodevelopmental Disorders 09/2013
1	Hypotrichosis simplex 01/2013
1	Inborn Genetic Diseases (Disease, Hereditary) 06/2009
1	Protein Deficiency 10/2005
1	Motor Neuron Disease (Primary Lateral Sclerosis) 09/2004
1	Neuromuscular Diseases (Neuromuscular Disease) 10/2002

Drug/Important Bio-Agent (IBA)

16	Proteins (Proteins, Gene)FDA Link 01/2022 - 07/2002
3	SMN Complex ProteinsIBA 01/2021 - 02/2007
3	Messenger RNA (mRNA)IBA 10/2019 - 09/2013
3	Small Nuclear Ribonucleoproteins (snRNP)IBA 10/2019 - 10/2005
3	RNA Precursors (Precursor, mRNA)IBA 10/2019 - 06/2009
2	RNA (Ribonucleic Acid)IBA 01/2021 - 09/2013
2	Carrier Proteins (Binding Protein)IBA 01/2018 - 09/2004
2	Immunoglobulins (Immunoglobulin)IBA 01/2018 - 09/2004
1	MicroRNAs (MicroRNA)IBA 01/2022
1	Interferon Type IIBA 01/2022
1	Oncogene Proteins (Oncogene Protein)IBA 01/2022
1	Transcription Factors (Transcription Factor)IBA 10/2021
1	Viral RNAIBA 01/2021
1	ProteomeIBA 01/2021
1	DNA-Directed RNA Polymerases (RNA Polymerase)IBA 12/2019
1	EnzymesIBA 12/2019
1	Anti-Bacterial Agents (Antibiotics)IBA 03/2015
1	Polymyxins (Polymyxin)IBA 03/2015
1	Pharmaceutical PreparationsIBA 03/2015
1	Biomarkers (Surrogate Marker)IBA 01/2015
1	CationsIBA 11/2011
1	Tyrosine (L-Tyrosine)FDA Link 11/2011
1	Hydroxyl RadicalIBA 11/2011
1	RNA Splicing FactorsIBA 01/2011
1	Staphylococcal Protein A (Protein A)IBA 10/2002

Therapy/Procedure

1	Therapeutics 01/2021