Alexey V Pshezhetsky Selected Research

Mucopolysaccharidosis III (Sanfilippo Syndrome)

1/2022	Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT.
12/2019	HGSNAT enzyme deficiency results in accumulation of heparan sulfate in podocytes and basement membranes.
1/2019	Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
1/2016	Lysosomal storage of heparan sulfate causes mitochondrial defects, altered autophagy, and neuronal death in the mouse model of mucopolysaccharidosis III type C.
10/2015	Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate.
2/2015	Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.
1/2015	Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C.
10/2010	Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC.
10/2009	Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
6/2009	Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

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Alexey V Pshezhetsky Research Topics

Disease

13	Mucopolysaccharidosis III (Sanfilippo Syndrome) 01/2022 - 01/2006
9	Mucopolysaccharidoses 01/2022 - 01/2006
6	Mucolipidoses (Sialidosis) 01/2021 - 01/2002
5	Neuraminidase deficiency with beta-galactosidase deficiency 01/2009 - 01/2002
4	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2015 - 01/2006
3	Neuraminidase 1 deficiency 01/2010 - 08/2004
2	Memory Disorders (Memory Loss) 01/2022 - 01/2017
2	Atherosclerotic Plaque (Atheroma) 01/2021 - 04/2014
2	Atherosclerosis 01/2021 - 04/2014
2	Seizures (Absence Seizure) 02/2020 - 09/2010
2	Neuroinflammatory Diseases 02/2020 - 01/2017
2	Gliosis 02/2020 - 01/2017
2	Tay-Sachs Disease 01/2017 - 09/2010
2	Hypertension (High Blood Pressure) 01/2017 - 01/2009
2	Mitochondrial Diseases (Mitochondrial Disease) 01/2016 - 01/2015
2	Facies 10/2009 - 06/2009
1	Inflammation (Inflammations) 01/2022
1	Vascular Diseases (Vascular Disease) 01/2021
1	Coronary Artery Disease (Coronary Atherosclerosis) 01/2021
1	Neurologic Manifestations (Neurological Manifestations) 02/2020
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 02/2020
1	Disease Progression 02/2020
1	Neurobehavioral Manifestations 02/2020
1	Mucopolysaccharidosis I (Hurler Syndrome) 02/2020
1	Amyloid Plaque 02/2020
1	Infections 12/2018
1	Muscular Diseases (Myopathy) 12/2018
1	Neoplasm Metastasis (Metastasis) 12/2018
1	Sialic Acid Storage Disease (Salla Disease) 12/2018
1	Hydrocephalus (Hydrocephaly) 12/2018
1	Epilepsy (Aura) 12/2018
1	Pathologic Processes 01/2018
1	Insulin Resistance 01/2018
1	Glucose Intolerance 01/2018
1	Hyperglycemia 01/2018
1	Dementia (Dementias) 06/2017
1	AB Variant Tay-Sachs Disease 06/2017
1	Atrophy 06/2017
1	Chorea (Rheumatic Chorea) 06/2017
1	Nervous System Diseases (Neurological Disorders) 01/2017
1	Gangliosidoses (Gangliosidosis) 01/2017
1	Hereditary Corneal Dystrophies 01/2017
1	Urinary Retention 02/2015
1	Prion Diseases (Transmissible Spongiform Encephalopathies) 01/2015

Drug/Important Bio-Agent (IBA)

14	Heparitin Sulfate (Heparan Sulfate)IBA 01/2022 - 01/2006
14	EnzymesIBA 02/2020 - 01/2002
12	Proteins (Proteins, Gene)FDA Link 02/2020 - 01/2002
10	Neuraminidase (Sialidase)IBA 01/2022 - 01/2002
8	AcetyltransferasesIBA 01/2022 - 01/2006
7	Cathepsin AIBA 01/2018 - 01/2002
5	Acetyl Coenzyme A (Acetyl-CoA)IBA 01/2022 - 09/2006
5	GlycosaminoglycansIBA 02/2020 - 01/2015
5	glucosamine acetyltransferaseIBA 10/2010 - 01/2006
4	Insulin (Novolin)FDA Link 01/2018 - 01/2007
4	Nonsense Codon (Nonsense Mutation)IBA 06/2017 - 11/2003
3	Glucosamine (Dona)IBA 01/2022 - 06/2009
2	Polysaccharides (Glycans)IBA 01/2021 - 01/2018
2	Glycoproteins (Glycoprotein)IBA 01/2021 - 12/2018
2	GlycolipidsIBA 01/2021 - 12/2018
2	Lysergic Acid Diethylamide (LSD)IBA 01/2021 - 02/2020
2	CholesterolIBA 01/2021 - 01/2014
2	G(M3) GangliosideIBA 01/2017 - 09/2010
2	serine carboxypeptidaseIBA 01/2017 - 01/2009
2	CytokinesIBA 01/2015 - 12/2009
2	alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA 10/2009 - 06/2009
2	GlycoconjugatesIBA 01/2009 - 04/2008
2	Complementary DNA (cDNA)IBA 02/2006 - 01/2002
1	IsoenzymesIBA 01/2022
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 01/2021
1	Apolipoprotein B-100 (Apo B 100)IBA 01/2021
1	Asialoglycoprotein ReceptorIBA 01/2021
1	oxidized low density lipoproteinIBA 01/2021
1	LDL Receptors (LDL Receptor)IBA 01/2021
1	Apolipoproteins E (ApoE)IBA 01/2021
1	ApolipoproteinsIBA 01/2021
1	LDL Lipoproteins (beta Lipoproteins)IBA 01/2021
1	Amyloid (Amyloid Fibrils)IBA 02/2020
1	Cathepsin BIBA 02/2020
1	Iduronidase (alpha-L-Iduronidase)IBA 02/2020
1	Dermatan SulfateIBA 02/2020
1	Keratan SulfateIBA 02/2020
1	sialogangliosidesIBA 02/2020
1	N-acetylneuraminate lyaseIBA 12/2018
1	AcetylglucosamineIBA 12/2018
1	Sialic AcidsIBA 12/2018
1	Ambroxol (Mucosolvan)IBA 01/2018
1	Insulin ReceptorIBA 01/2018
1	PalmitatesIBA 01/2018
1	G(M2) Ganglioside (Ganglioside GM2)IBA 06/2017
1	LipofuscinIBA 01/2017
1	Serine (L-Serine)FDA Link 01/2017
1	G(M1) GangliosideIBA 01/2017
1	CarboxypeptidasesIBA 01/2017
1	GangliosidesIBA 01/2017
1	HydrolasesIBA 01/2016
1	Mutant Proteins (Protein, Mutant)IBA 10/2015
1	Dihydrotachysterol (AT 10)IBA 02/2015
1	SialoglycoproteinsIBA 01/2015
1	Prion ProteinsIBA 01/2015
1	Peptides (Polypeptides)IBA 04/2014