Vincent Timmerman Selected Research

Serine C-Palmitoyltransferase

1/2019	Loss of Neurological Disease HSAN-I-Associated Gene SPTLC2 Impairs CD8+ T Cell Responses to Infection by Inhibiting T Cell Metabolic Fitness.
5/2013	Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.
6/2011	Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
10/2010	Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
4/2009	A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.
10/2002	Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Vincent Timmerman Research Topics

Disease

14	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 11/2022 - 06/2002
12	Hereditary Sensory and Autonomic Neuropathies (HSAN) 01/2019 - 10/2002
9	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2020 - 06/2004
8	Peripheral Nervous System Diseases (PNS Diseases) 01/2019 - 03/2002
4	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2019 - 06/2004
3	Epilepsy (Aura) 12/2019 - 09/2007
3	Type 2F Charcot-Marie-Tooth disease 01/2016 - 06/2004
3	Infections 08/2015 - 03/2003
3	Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease) 08/2005 - 06/2002
2	Disease Progression 11/2022 - 04/2009
2	Pain (Aches) 01/2022 - 11/2013
2	Inflammation (Inflammations) 11/2020 - 01/2019
2	Distal Myopathies (Distal Muscular Dystrophy) 01/2020 - 01/2018
2	Brain Diseases (Brain Disorder) 12/2019 - 11/2015
2	Menkes Kinky Hair Syndrome (Menkes Disease) 10/2019 - 03/2010
2	Occipital horn syndrome 10/2019 - 03/2010
2	Parkinson Disease (Parkinson's Disease) 04/2016 - 01/2010
2	Type 2B Charcot-Marie-Tooth disease 05/2014 - 03/2003
2	Type 2I Charcot-Marie-Tooth disease 08/2012 - 08/2010
2	Necrosis 07/2010 - 04/2009
2	Reinfection 04/2009 - 03/2003
2	Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy) 05/2008 - 03/2004
2	Demyelinating Diseases (Demyelinating Disease) 07/2007 - 08/2005
2	Foot Ulcer 03/2003 - 03/2003
1	Type 2D Charcot-Marie-Tooth disease 11/2022
1	Chronic Pain 01/2022
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2021
1	Neuroinflammatory Diseases 11/2020
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2020
1	Huntington Disease (Huntington's Disease) 01/2020
1	Microcephaly 12/2019
1	Neuromuscular Diseases (Neuromuscular Disease) 10/2017
1	Foot Deformities (Foot Deformity) 01/2017
1	Dementia (Dementias) 04/2016
1	Hereditary Spastic Paraplegia 04/2016
1	Neoplasms (Cancer) 01/2016
1	Peripheral Nerve Injuries 08/2015
1	Isaacs Syndrome (Neuromyotonia) 10/2012
1	Wallerian Degeneration 07/2012
1	Tomaculous neuropathy 06/2010
1	Developmental Bone Diseases (Bone Dysplasia) 06/2010
1	Cataract (Cataracts) 07/2009
1	Hip Dislocation 04/2009
1	Agammaglobulinemia (Hypogammaglobulinemia) 04/2009

Drug/Important Bio-Agent (IBA)

15	Proteins (Proteins, Gene)FDA Link 11/2022 - 11/2002
10	Small Heat-Shock ProteinsIBA 01/2020 - 06/2004
6	Serine C-PalmitoyltransferaseIBA 01/2019 - 10/2002
3	Phosphotransferases (Kinase)IBA 01/2021 - 04/2009
3	SphingolipidsIBA 01/2019 - 10/2010
3	Biological ProductsIBA 08/2011 - 10/2003
3	Dynamin IIIBA 07/2009 - 03/2005
2	InflammasomesIBA 11/2020 - 08/2015
2	alpha-Crystallins (alpha-Crystallin)IBA 01/2019 - 08/2010
2	Heat-Shock Proteins (Heat-Shock Protein)IBA 01/2019 - 06/2004
2	DNA (Deoxyribonucleic Acid)IBA 05/2012 - 06/2004
2	EnzymesIBA 06/2011 - 10/2010
2	Myelin ProteinsIBA 06/2010 - 04/2005
1	Biomarkers (Surrogate Marker)IBA 11/2022
1	Neural Cell Adhesion Molecules (Neural Cell Adhesion Molecule)IBA 11/2022
1	Analgesics (Analgesic Drugs)IBA 01/2022
1	Proline (L-Proline)FDA Link 01/2020
1	Codon (Codons)IBA 01/2020
1	Valine-tRNA LigaseIBA 12/2019
1	Copper-Transporting ATPasesIBA 10/2019
1	Antiviral Agents (Antivirals)IBA 01/2019
1	4- ethoxymethylene- 2- phenyl- 2- oxazoline- 5- one (phOx)IBA 01/2019
1	AntigensIBA 01/2019
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 01/2019
1	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2019
1	UbiquitinIBA 01/2019
1	Green Fluorescent ProteinsIBA 01/2019
1	polyglutamineIBA 01/2018
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 11/2017
1	Creatine Kinase (Creatine Phosphokinase)IBA 01/2017
1	Molecular Chaperones (Chaperone, Molecular)IBA 11/2016
1	RNA (Ribonucleic Acid)IBA 01/2016
1	Citric Acid (Citrate)FDA LinkGeneric 11/2015
1	Indicators and Reagents (Reagents)IBA 11/2015
1	Extracellular Signal-Regulated MAP Kinases (Extracellular Signal Regulated Kinases)IBA 08/2015
1	NLR ProteinsIBA 08/2015
1	Transfer RNA (tRNA)IBA 08/2014
1	Ligases (Synthetase)IBA 08/2014
1	Monomeric GTP-Binding ProteinsIBA 05/2014
1	Sodium Channels (Sodium Channel)IBA 11/2013
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 12/2012
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 05/2012
1	spisulosineIBA 10/2010
1	CationsIBA 06/2010
1	P-type ATPasesIBA 03/2010
1	CopperIBA 03/2010
1	Dopamine (Intropin)FDA LinkGeneric 01/2010
1	Neurotransmitter Agents (Neurotransmitter)IBA 01/2010
1	Palmitoyl Coenzyme A (Palmitoyl CoA)IBA 04/2009
1	CeramidesIBA 04/2009
1	3-(2-carboxyindol-3-yl)propionic acidIBA 04/2009
1	Serine (L-Serine)FDA Link 04/2009

Therapy/Procedure

3	Therapeutics 01/2022 - 01/2006
2	Surgical Amputation (Amputations) 03/2003 - 03/2003
1	Denervation 11/2022
1	Axotomy 07/2012