Melanie Bahlo Selected Research

Ubiquitin

1/2022

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

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Melanie Bahlo Research Topics

Disease

5	Neoplasms (Cancer) 01/2023 - 01/2010
5	Ataxia (Dyssynergia) 01/2022 - 05/2011
5	Hearing Loss (Hearing Impairment) 08/2011 - 03/2009
5	Multiple Sclerosis 10/2010 - 05/2002
4	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2023 - 06/2012
4	Telangiectasis (Telangiectasia) 01/2023 - 10/2019
4	Hemochromatosis (Bronze Diabetes) 01/2023 - 01/2008
4	Partial Epilepsies (Epilepsy, Partial) 01/2022 - 11/2012
3	Retinal Diseases 01/2023 - 01/2021
3	Epilepsy (Aura) 01/2021 - 08/2015
3	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 01/2021 - 04/2013
3	Muscular Diseases (Myopathy) 09/2015 - 12/2008
3	Intellectual Disability (Idiocy) 08/2015 - 12/2014
2	Stuttering (Stammering) 12/2023 - 10/2022
2	Inflammation (Inflammations) 05/2023 - 01/2020
2	Cerebellar Ataxia (Dysmetria) 01/2023 - 09/2012
2	Huntington Disease (Huntington's Disease) 01/2023 - 08/2016
2	Malformations of Cortical Development 02/2022 - 01/2016
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2022 - 01/2018
2	Neurodevelopmental Disorders 01/2022 - 11/2019
2	Periventricular Nodular Heterotopia 01/2022 - 01/2018
2	Seizures (Absence Seizure) 01/2022 - 01/2009
2	Absence Epilepsy (Childhood Absence Epilepsy) 01/2021 - 01/2009
2	Type 2 Diabetes Mellitus (MODY) 01/2021 - 01/2021
2	Spinocerebellar Degenerations (Marinesco Sjogren Syndrome) 11/2020 - 09/2012
2	Aneuploidy (Aneuploid) 06/2015 - 01/2014
2	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 04/2013 - 05/2011
2	Nonsyndromic Deafness 08/2011 - 09/2009
2	Hepatocellular Carcinoma (Hepatoma) 09/2010 - 01/2008
2	Iron Overload 10/2009 - 01/2008
2	Deafness (Deaf Mutism) 09/2009 - 12/2006
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/2023
1	Myopia 01/2023
1	Polycythemia Vera 01/2023
1	Hereditary Nephritis (Alport Syndrome) 01/2023
1	Benign Familial Hematuria 01/2023
1	Myotonic Dystrophy (Dystrophia Myotonica) 01/2023
1	Scalp ear nipple syndrome 01/2023
1	Cysts 01/2023
1	Pontocerebellar Hypoplasia 01/2022
1	Malaria 01/2022
1	Hamartoma 01/2022
1	Hypothalamic hamartomas 01/2022
1	Nephritis 12/2021
1	Autistic Disorder (Autism) 12/2021
1	Acute Intermittent Porphyria (Porphyria, Acute) 10/2021
1	Long QT Syndrome 01/2021
1	Idiopathic Generalized Epilepsy 01/2021
1	Heart Arrest (Cardiac Arrest) 01/2021
1	Paroxysmal ventricular fibrillation 01/2021

Drug/Important Bio-Agent (IBA)

9	Proteins (Proteins, Gene)FDA Link 12/2023 - 12/2008
7	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 09/2009
6	Retinaldehyde (Retinal)IBA 01/2023 - 01/2020
5	IronIBA 05/2023 - 03/2008
4	EnzymesIBA 10/2021 - 03/2011
3	LipidsIBA 01/2022 - 09/2008
3	Serine (L-Serine)FDA Link 01/2021 - 10/2019
3	CalciumIBA 01/2021 - 01/2009
3	Phosphotransferases (Kinase)IBA 09/2016 - 05/2011
2	Amino Acids FDA Link 01/2023 - 10/2019
2	CollagenIBA 01/2023 - 01/2018
2	AntigensIBA 01/2022 - 03/2007
2	RNA (Ribonucleic Acid)IBA 12/2021 - 12/2011
2	Immunoglobulin E (IgE)IBA 01/2021 - 01/2009
2	Calcium Channels (Calcium Channel)IBA 01/2021 - 01/2021
2	Cell-Free Nucleic AcidsIBA 01/2021 - 06/2015
2	NucleotidesIBA 01/2018 - 01/2009
2	Cadherins (E-Cadherin)IBA 03/2013 - 08/2011
2	Ethylnitrosourea (N-Ethyl-N-nitrosourea)IBA 08/2011 - 09/2009
2	Messenger RNA (mRNA)IBA 03/2011 - 11/2002
2	HLA Antigens (Human Leukocyte Antigens)IBA 10/2010 - 05/2002
2	Ferritins (Ferritin)IBA 10/2009 - 01/2008
1	Peptidyl-Prolyl Isomerase DIBA 12/2023
1	Membrane LipidsIBA 01/2023
1	SphingolipidsIBA 01/2023
1	tributyl phosphate (TBP)IBA 01/2023
1	Hemoglobins (Hemoglobin)IBA 01/2023
1	HepcidinsIBA 01/2023
1	Sirolimus (Rapamycin)FDA Link 02/2022
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2022
1	VaccinesIBA 01/2022
1	Phosphatidylinositol 3-Kinase (1 Phosphatidylinositol 3 Kinase)IBA 01/2022
1	Centrosomal Associated ProteinsIBA 01/2022
1	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2022
1	Mitochondrial RNAIBA 01/2022
1	Mechanistic Target of Rapamycin Complex 1IBA 01/2022
1	CyclinsIBA 01/2022
1	UbiquitinIBA 01/2022
1	F-Box ProteinsIBA 01/2022
1	Immunoglobulin G (IgG)IBA 12/2021
1	Immunoglobulin A (IgA)IBA 12/2021
1	Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA 10/2021
1	CitrullineIBA 01/2021
1	Calmodulin (Calcium-Dependent Activator Protein)IBA 01/2021
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/2021
1	Biomarkers (Surrogate Marker)IBA 01/2021
1	Gastric Inhibitory Polypeptide (Glucose Dependent Insulinotropic Peptide)IBA 01/2021

Therapy/Procedure

5	Therapeutics 10/2022 - 10/2009
1	Speech Therapy (Therapy, Speech) 10/2022
1	Precision Medicine 11/2021