Sofie Symoens Selected Research

Protein Sorting Signals (Signal Peptide)

2/2009

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.

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Sofie Symoens Research Topics

Disease

12	Osteogenesis Imperfecta (Lobstein Disease) 11/2023 - 03/2007
11	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 10/2021 - 04/2007
4	Contracture 12/2022 - 11/2010
2	Metabolic Bone Diseases (Osteopenia) 12/2022 - 01/2018
2	Type IV Ehlers-Danlos Syndrome 05/2022 - 08/2006
2	Congenital Cortical Hyperostosis (Infantile Cortical Hyperostosis) 12/2021 - 04/2007
2	Muscular Diseases (Myopathy) 01/2020 - 04/2019
2	Cutis Laxa 12/2019 - 01/2017
2	Joint Instability (Joint Laxity) 01/2019 - 10/2012
2	Cicatrix (Scar) 01/2019 - 10/2012
1	Ataxia (Dyssynergia) 06/2023
1	Leukoencephalopathies 06/2023
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 06/2023
1	Movement Disorders (Movement Disorder) 06/2023
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 06/2023
1	Ganglion Cysts (Ganglion) 03/2023
1	Congenital Abnormalities (Deformity) 03/2023
1	Cataract (Cataracts) 03/2023
1	Hyperplasia 03/2023
1	Myalgia 12/2022
1	Malignant Hyperthermia 12/2022
1	Muscle Cramp (Cramp) 12/2022
1	Congenital Heart Defects (Congenital Heart Defect) 01/2022
1	Stillbirth 10/2021
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2021
1	Microspherophakia 01/2020
1	Weill-Marchesani Syndrome 01/2020
1	Brachydactyly 01/2020
1	Occipital horn syndrome 12/2019
1	Exostoses 12/2019
1	Diverticulum 12/2019
1	Muscle Weakness 04/2019
1	Osteoporosis 01/2019
1	Spontaneous Fractures (Pathological Fracture) 01/2018
1	Musculoskeletal Abnormalities 11/2016
1	Autosomal Recessive Type VII Ehlers-Danlos Syndrome 01/2016
1	Autosomal Dominant Cutis Laxa 09/2015
1	Fanconi Syndrome (Syndrome, Fanconi) 09/2013
1	Cystinosis 09/2013
1	Wounds and Injuries (Trauma) 06/2013
1	Hearing Loss (Hearing Impairment) 12/2011
1	Inborn Genetic Diseases (Disease, Hereditary) 03/2011
1	Craniofacial Abnormalities 11/2010
1	Rupture 04/2007
1	Hypertelorism 08/2006
1	Loeys-Dietz Syndrome 08/2006
1	Vascular Diseases (Vascular Disease) 08/2006
1	Cleft Palate (Palate, Cleft) 08/2006
1	Aneurysm (Aneurysms) 08/2006
1	Ehlers-Danlos syndrome type 6 05/2005

Drug/Important Bio-Agent (IBA)

10	Collagen Type I (Type I Collagen)IBA 11/2023 - 03/2007
9	CollagenIBA 11/2023 - 03/2007
5	Proteins (Proteins, Gene)FDA Link 11/2023 - 02/2009
4	Procollagen Type IIBA 12/2021 - 05/2013
3	EnzymesIBA 01/2020 - 01/2016
3	alpha2 Subunit Collagen Type IIBA 04/2017 - 04/2007
2	Creatine Kinase (Creatine Phosphokinase)IBA 12/2022 - 04/2019
2	Arginine (L-Arginine)FDA Link 12/2021 - 04/2007
2	Cysteine (L-Cysteine)FDA Link 12/2021 - 04/2007
2	Nonsense Codon (Nonsense Mutation)IBA 10/2021 - 01/2018
2	Collagen Type V (Type V Collagen)IBA 10/2021 - 10/2012
2	Protein-Lysine 6-Oxidase (Lysyl Oxidase)IBA 12/2019 - 09/2013
2	Copper Transport ProteinsIBA 12/2019 - 09/2013
2	2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA 03/2011 - 05/2005
1	IronIBA 06/2023
1	Capsules (Microcapsules)IBA 03/2023
1	Anesthetics (Anesthetic Agents)IBA 12/2022
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 12/2022
1	Glutamic Acid (Glutamate)FDA Link 05/2022
1	Lysine (L-Lysine)FDA Link 05/2022
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 05/2022
1	DNA (Deoxyribonucleic Acid)IBA 01/2022
1	Mitochondrial DNA (mtDNA)IBA 01/2021
1	Fibrillin-1IBA 01/2020
1	Carrier Proteins (Binding Protein)IBA 01/2019
1	Transcription Factors (Transcription Factor)IBA 01/2018
1	Adenosine Triphosphatases (ATPase)IBA 01/2017
1	ProcollagenIBA 01/2016
1	Ornithine-Oxo-Acid Transaminase (Ornithine Aminotransferase)IBA 09/2015
1	Dermatan SulfateIBA 05/2015
1	Cysteamine (Mercaptamine)FDA Link 09/2013
1	CopperIBA 09/2013
1	GlycosaminoglycansIBA 06/2013
1	Peptide Hydrolases (Proteases)FDA Link 05/2013
1	pyridinolineIBA 11/2010
1	Protein Sorting Signals (Signal Peptide)IBA 02/2009
1	Proteoglycans (Proteoglycan)IBA 03/2007
1	IntegrinsIBA 03/2007
1	Collagen Type III (Type III Collagen)IBA 08/2006
1	Transforming Growth Factor-beta Type II ReceptorIBA 08/2006
1	Transforming Growth Factor-beta Type I ReceptorIBA 08/2006
1	Transforming Growth Factor beta Receptors (TGF beta Receptors)IBA 08/2006

Therapy/Procedure

1	Lenses 01/2020
1	Kidney Transplantation 09/2013
1	Renal Dialysis (Hemodialysis) 09/2013
1	Vascular Surgical Procedures 08/2006
1	Therapeutics 08/2006