Elisabetta Gazzerro Selected Research

5 Hypomyelinating Leukodystrophy

1/2012	Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.
9/2011	Hypomyelination and congenital cataract: broadening the clinical phenotype.
8/2007	Phenotypic characterization of hypomyelination and congenital cataract.
10/2006	Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

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Elisabetta Gazzerro Research Topics

Disease

6	Muscular Dystrophies (Muscular Dystrophy) 01/2022 - 07/2008
6	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2019 - 04/2010
4	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2022 - 03/2008
4	5 Hypomyelinating Leukodystrophy 01/2012 - 10/2006
3	Inflammation (Inflammations) 01/2022 - 11/2018
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2022 - 08/2020
2	Muscular Diseases (Myopathy) 01/2013 - 07/2008
2	Multiple Myeloma 04/2010 - 05/2007
1	Fibrosis (Cirrhosis) 01/2022
1	Skeletal Abnormalities Mandibular Hypoplasia Auditory Canal Atresia Short Stature 08/2021
1	Sarcoglycanopathies 01/2019
1	Myalgia 06/2018
1	Necrosis 01/2016
1	Myoclonic Epilepsies (Myoclonic Encephalopathy) 08/2014
1	Neurodegenerative Diseases (Neurodegenerative Disease) 08/2014
1	Dementia (Dementias) 08/2014
1	Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy) 08/2014
1	Neutral Lipid Storage Disease with Myopathy 01/2013
1	Intellectual Disability (Idiocy) 03/2012
1	Epilepsy (Aura) 03/2012
1	Clinical Deterioration 06/2010
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 02/2010
1	1 Rippling muscle disease 02/2010
1	Heart Diseases (Heart Disease) 02/2010
1	Distal Myopathies (Distal Muscular Dystrophy) 02/2010
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 03/2008
1	Metabolic Bone Diseases (Osteopenia) 01/2006
1	Breast Neoplasms (Breast Cancer) 01/2004
1	Neoplasms (Cancer) 01/2004

Drug/Important Bio-Agent (IBA)

3	Sarcoglycans (beta Sarcoglycan)IBA 01/2022 - 07/2008
3	Adenosine Triphosphate (ATP)IBA 01/2022 - 01/2019
3	DystrophinIBA 01/2019 - 07/2008
3	Proteins (Proteins, Gene)FDA Link 01/2016 - 01/2004
3	Membrane Proteins (Integral Membrane Proteins)IBA 09/2011 - 10/2006
2	Purinergic P2X7 ReceptorsIBA 01/2022 - 08/2020
2	Purinergic Receptors (Receptors, Purine)IBA 01/2022 - 11/2018
2	Creatine Kinase (Creatine Phosphokinase)IBA 11/2018 - 06/2018
2	Proteasome Endopeptidase Complex (Proteasome)IBA 01/2016 - 04/2010
2	Bortezomib (Velcade)FDA Link 04/2010 - 05/2007
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 08/2021
1	InflammasomesIBA 08/2020
1	CannabidiolIBA 01/2019
1	cannabidivarinIBA 01/2019
1	AlarminsIBA 01/2019
1	ectoATPaseIBA 01/2019
1	Immunoglobulin G (IgG)IBA 11/2018
1	Zidovudine (Retrovir)FDA LinkGeneric 11/2018
1	CB1 Cannabinoid Receptor (CB1 Receptor)IBA 01/2018
1	EndocannabinoidsIBA 01/2018
1	Ligases (Synthetase)IBA 01/2016
1	UbiquitinIBA 01/2016
1	Tripartite Motif ProteinsIBA 01/2016
1	dihydroceramide desaturaseIBA 08/2014
1	SphingolipidsIBA 08/2014
1	CeramidesIBA 08/2014
1	LipidsIBA 01/2013
1	Lipase (Acid Lipase)FDA Link 01/2013
1	OsteopontinIBA 07/2012
1	Ion Channels (Ion Channel)IBA 03/2012
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 06/2010
1	Biological ProductsIBA 02/2010
1	Caveolin 3IBA 02/2010
1	Aquaporin 4IBA 07/2008
1	Glycoproteins (Glycoprotein)IBA 07/2008
1	Threonine (L-Threonine)FDA Link 03/2008
1	Methionine (L-Methionine)FDA Link 03/2008
1	Insulin-Like Growth Factor I (IGF-1)IBA 01/2006
1	Retinoblastoma ProteinIBA 01/2004

Therapy/Procedure

1	Therapeutics 08/2021
1	Aftercare (After-Treatment) 01/2019