Andrea Superti-Furga Selected Research

anthrax toxin receptors

1/2020	Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
4/2011	Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.

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Andrea Superti-Furga Research Topics

Disease

9	Diastrophic dysplasia 10/2023 - 10/2003
6	Intellectual Disability (Idiocy) 08/2023 - 10/2003
5	Inborn Genetic Diseases (Disease, Hereditary) 06/2023 - 03/2011
5	Hyaline Fibromatosis Syndrome 01/2020 - 10/2003
4	Osteochondrodysplasias (Spondyloepiphyseal Dysplasia) 02/2007 - 10/2003
3	Osteogenesis Imperfecta (Lobstein Disease) 10/2023 - 04/2010
3	Epilepsy (Aura) 10/2021 - 01/2021
3	Contracture 10/2021 - 03/2011
3	Disease Progression 01/2021 - 07/2009
3	Joint Instability (Joint Laxity) 10/2019 - 12/2011
3	Joint Diseases (Joint Disease) 08/2012 - 02/2007
3	Larsen Syndrome 10/2010 - 04/2004
2	Brain Diseases (Brain Disorder) 12/2023 - 10/2021
2	Lactic Acidosis 08/2021 - 02/2012
2	Channelopathies 01/2021 - 07/2010
2	Cataract (Cataracts) 01/2021 - 02/2012
2	Paraplegia (Spastic Paraplegia) 01/2021 - 07/2007
2	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 01/2020 - 08/2014
2	Achondrogenesis 02/2019 - 03/2005
2	Desbuquois syndrome 01/2017 - 10/2010
2	Osteolysis hereditary multicentric 09/2016 - 02/2007
2	Osteolysis 01/2016 - 02/2007
2	CODAS syndrome 11/2015 - 07/2015
2	Congenital Abnormalities (Deformity) 10/2015 - 07/2010
2	Osteopetrosis 10/2015 - 01/2003
2	Jeune syndrome 03/2015 - 05/2013
2	Marfan Syndrome (Marfan's Syndrome) 10/2014 - 07/2011
2	Muscular Diseases (Myopathy) 10/2014 - 02/2012
2	Pyle disease 10/2013 - 01/2007
2	Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 03/2013 - 10/2005
2	Enchondromatosis (Ollier Disease) 11/2012 - 04/2011
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 02/2012 - 08/2005
2	Omani type Spondyloepiphyseal dysplasia 10/2010 - 06/2008
2	Joint Dislocations 10/2010 - 06/2008
2	Respiratory Tract Infections (Respiratory Tract Infection) 09/2009 - 07/2009
2	Atelosteogenesis Type 3 07/2006 - 04/2004
1	Achondroplasia 10/2023
1	Glomerulonephritis 06/2023
1	Neurologic Manifestations (Neurological Manifestations) 01/2023
1	Encephalocele (Encephalocele, Frontal) 01/2023
1	Lipoma (Lipomata) 01/2023
1	Acidosis 01/2023
1	Werner Syndrome (Werner's Syndrome) 09/2022
1	Lipodystrophy 09/2022
1	Hypertelorism 01/2022
1	Glaucoma 01/2022
1	Megalencephaly 10/2021
1	Seizures (Absence Seizure) 10/2021
1	Dyskinesias (Dyskinesia) 10/2021
1	Hyperglycemia 08/2021
1	Ketosis 08/2021
1	Hyperlactatemia 08/2021
1	Homocystinuria 06/2021

Drug/Important Bio-Agent (IBA)

11	Proteins (Proteins, Gene)FDA Link 08/2023 - 10/2003
6	EnzymesIBA 01/2017 - 04/2005
6	Sulfate TransportersIBA 07/2010 - 10/2003
5	CollagenIBA 10/2023 - 08/2004
5	Sulfates (Sulfates, Inorganic)IBA 10/2023 - 09/2006
4	AcidsIBA 01/2023 - 12/2005
3	ChloridesIBA 10/2023 - 10/2015
3	GlycosaminoglycansIBA 10/2023 - 12/2014
3	SulfotransferasesIBA 01/2023 - 10/2010
3	Calcium Channels (Calcium Channel)IBA 10/2021 - 11/2011
3	FilaminsIBA 10/2010 - 07/2006
2	AntiportersIBA 10/2023 - 10/2015
2	Insulin (Novolin)FDA Link 09/2022 - 08/2021
2	Chenodeoxycholic Acid (Chenix)FDA Link 03/2021 - 01/2021
2	Acetylcysteine (Siran)FDA LinkGeneric 01/2021 - 10/2015
2	anthrax toxin receptorsIBA 01/2020 - 04/2011
2	Polysaccharides (Glycans)IBA 01/2020 - 02/2019
2	zinc-binding protein (zinc binding protein)IBA 01/2020 - 08/2014
2	Proteoglycans (Proteoglycan)IBA 02/2019 - 07/2010
2	Membrane Proteins (Integral Membrane Proteins)IBA 12/2017 - 04/2011
2	BiglycanIBA 01/2017 - 01/2016
2	Matrix Metalloproteinase 2 (Gelatinase A)IBA 09/2016 - 02/2007
2	Peptide Hydrolases (Proteases)FDA Link 11/2015 - 07/2015
2	SteroidsIBA 12/2014 - 01/2010
2	CyclinsIBA 11/2013 - 03/2008
2	CalciumIBA 10/2013 - 04/2005
2	Alkaline PhosphataseIBA 10/2013 - 04/2005
2	Growth Hormone (Somatotropin)IBA 09/2013 - 03/2013
2	Retinaldehyde (Retinal)IBA 05/2013 - 10/2011
2	Cartilage Oligomeric Matrix ProteinIBA 01/2012 - 02/2007
2	DNA (Deoxyribonucleic Acid)IBA 11/2011 - 04/2011
2	Carbohydrate SulfotransferasesIBA 10/2010 - 06/2008
2	Chondroitin Sulfate ProteoglycansIBA 07/2010 - 06/2008
1	GTP-Binding Proteins (G-Protein)IBA 12/2023
1	Biomarkers (Surrogate Marker)IBA 10/2023
1	CarbohydratesIBA 01/2023
1	Capsules (Microcapsules)IBA 01/2022
1	Topiramate (Topamax)FDA LinkGeneric 10/2021
1	mannosamine (D-mannosamine)IBA 09/2021
1	N-acetylneuraminate synthaseIBA 09/2021
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 09/2021
1	Lactic Acid (Lactate)FDA LinkGeneric 08/2021
1	Glucose (Dextrose)FDA LinkGeneric 08/2021
1	HomocysteineIBA 06/2021

Therapy/Procedure

7	Therapeutics 01/2021 - 09/2009
1	Renal Replacement Therapy (Therapies, Renal Replacement) 06/2023
1	Sutures (Suture) 01/2023