Charles E Schwartz Selected Research

Spermine Synthase

4/2020	The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.
1/2020	(R,R)-1,12-Dimethylspermine can mitigate abnormal spermidine accumulation in Snyder-Robinson syndrome.
1/2020	Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression.
12/2018	Polyamine Homeostasis in Snyder-Robinson Syndrome.
1/2018	Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
11/2017	Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
9/2013	Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.
1/2011	Spermine synthase activity affects the content of decarboxylated S-adenosylmethionine.
1/2011	Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).

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Charles E Schwartz Research Topics

Disease

34	Intellectual Disability (Idiocy) 04/2020 - 05/2002
16	X-Linked Mental Retardation (Mental Retardation, X Linked) 05/2010 - 05/2002
9	Snyder Robinson syndrome 04/2020 - 09/2010
7	Autistic Disorder (Autism) 01/2017 - 11/2006
5	Autism Spectrum Disorder 01/2020 - 05/2010
5	Seizures (Absence Seizure) 12/2018 - 05/2002
5	Microcephaly 01/2017 - 04/2004
5	Opitz-Kaveggia syndrome 11/2013 - 11/2003
4	Muscle Hypotonia (Hypotonia) 12/2018 - 12/2003
4	Epilepsy (Aura) 01/2014 - 04/2005
3	Osteoporosis 12/2018 - 12/2003
3	Nervous System Diseases (Neurological Disorders) 11/2017 - 11/2012
3	Lujan Fryns syndrome 11/2013 - 07/2007
2	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2018 - 02/2007
2	Fragile X Syndrome (Martin Bell Syndrome) 07/2015 - 04/2013
2	Cognitive Dysfunction 04/2013 - 11/2007
2	Infections 10/2010 - 12/2006
2	Renpenning syndrome 1 06/2010 - 04/2004
2	Megalencephaly 02/2010 - 02/2007
1	Imprinting Disorders 01/2022
1	Colorectal Neoplasms (Colorectal Cancer) 01/2020
1	Neurodevelopmental Disorders 12/2019
1	Mental Disorders (Mental Disorder) 10/2019
1	Carcinogenesis 01/2019
1	Neural Tube Defects (Exencephaly) 01/2018
1	Muscular Diseases (Myopathy) 10/2017
1	Keloid 04/2016
1	Contracture 04/2016
1	Malformed Nails (Pachyonychia) 02/2016
1	Hearing Loss (Hearing Impairment) 02/2016
1	Neurologic Manifestations (Neurological Manifestations) 04/2015
1	Dystonia (Limb Dystonia) 04/2015
1	Respiratory Tract Infections (Respiratory Tract Infection) 03/2015
1	Cysts 03/2015
1	Hypoglycemia (Reactive Hypoglycemia) 03/2015
1	Metabolic Bone Diseases (Osteopenia) 03/2015
1	Nephrocalcinosis 03/2015
1	Neurocutaneous Syndromes (Phakomatoses) 01/2014
1	Cohen syndrome 01/2014
1	Scoliosis 01/2014
1	Schizophrenia (Dementia Praecox) 06/2013
1	Aneuploidy (Aneuploid) 04/2013
1	Channelopathies 10/2012
1	Cardiomegaly (Heart Hypertrophy) 10/2012
1	Atrial Fibrillation 10/2012
1	Chromosome Aberrations (Chromosome Abnormalities) 06/2012
1	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 12/2010
1	Angelman Syndrome (Syndrome, Angelman) 11/2010
1	Atrophy 11/2010

Drug/Important Bio-Agent (IBA)

16	Proteins (Proteins, Gene)FDA Link 10/2019 - 02/2005
9	Spermine SynthaseIBA 04/2020 - 01/2011
4	PolyaminesIBA 01/2020 - 03/2015
4	EnzymesIBA 11/2017 - 01/2011
3	RNA Polymerase II (RNA Polymerase B)IBA 01/2019 - 07/2007
3	Amino Acids FDA Link 01/2018 - 02/2007
3	ElementsIBA 07/2015 - 04/2013
3	DNA (Deoxyribonucleic Acid)IBA 10/2010 - 11/2003
3	creatine transporterIBA 09/2007 - 05/2002
2	NucleotidesIBA 01/2020 - 03/2010
2	SpermidineIBA 01/2020 - 12/2003
2	O-GlcNAc transferaseIBA 01/2020 - 01/2018
2	Glutamic Acid (Glutamate)FDA Link 03/2017 - 11/2010
2	Protein Kinases (Protein Kinase)IBA 02/2016 - 05/2010
2	Neurotransmitter Agents (Neurotransmitter)IBA 04/2015 - 05/2012
2	Tryptophan (L-Tryptophan)FDA Link 01/2014 - 06/2013
2	Nonsense Codon (Nonsense Mutation)IBA 09/2013 - 12/2006
2	SpermineIBA 09/2010 - 12/2003
2	NeuroliginsIBA 08/2008 - 06/2008
2	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 02/2008 - 02/2007
2	X-linked Creatine deficiencyIBA 09/2007 - 05/2002
1	snRNP Core ProteinsIBA 01/2022
1	Amino Acid Transport Systems (Amino Acid Transporter)IBA 01/2020
1	Histone DemethylasesIBA 12/2019
1	Transcription Factors (Transcription Factor)IBA 12/2019
1	ChromatinIBA 12/2019
1	Adenosine Triphosphatases (ATPase)IBA 01/2019
1	Vacuolar Proton-Translocating ATPases (V-Type ATPase)IBA 01/2019
1	SRS-AIBA 12/2018
1	Protein Glutamine gamma Glutamyltransferase 2IBA 12/2018
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2018
1	Tacrolimus Binding Proteins (FKBP)IBA 10/2017
1	Phosphotransferases (Kinase)IBA 01/2017
1	FilaminsIBA 04/2016
1	Aromatic-L-Amino-Acid DecarboxylasesIBA 04/2015
1	Retinaldehyde (Retinal)IBA 03/2015
1	GangliosidesIBA 01/2014
1	SaltsIBA 01/2014
1	Glycoproteins (Glycoprotein)IBA 01/2014
1	GlycolipidsIBA 01/2014
1	NAD (NADH)IBA 06/2013
1	Biological ProductsIBA 06/2013
1	Lysine (L-Lysine)FDA Link 01/2013
1	Histones (Histone)IBA 01/2013
1	Eukaryotic Initiation Factor-2 (EIF 2)IBA 11/2012
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 10/2012
1	Dopamine (Intropin)FDA LinkGeneric 05/2012
1	Anticonvulsants (Antiepileptic Drugs)IBA 05/2012
1	Glutamate Receptors (Glutamate Receptor)IBA 03/2011
1	SterolsIBA 12/2010

Therapy/Procedure

1	Therapeutics 05/2012