C Minetti Selected Research

Caveolin 3

1/2011	Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders.
6/2008	Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease.
2/2004	Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.
6/2001	Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities.
12/2000	Limb-girdle muscular dystrophy (LGMD-1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation. Treatment with proteasomal inhibitors blocks the dominant negative effect of LGMD-1C mutanta and rescues wild-type caveolin-3.
8/2000	Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype.
3/2000	Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

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C Minetti Research Topics

Disease

5	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2011 - 03/2000
3	Muscular Diseases (Myopathy) 08/2017 - 10/2005
3	1 Rippling muscle disease 01/2011 - 02/2004
2	Distal Myopathies (Distal Muscular Dystrophy) 01/2011 - 02/2004
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2011 - 10/2005
2	Muscular Dystrophies (Muscular Dystrophy) 05/2009 - 08/2000
2	Glycogen Storage Disease Type IV (Andersen's Disease) 07/2007 - 09/2004
1	Myositis (Idiopathic Inflammatory Myopathies) 03/2018
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 08/2017
1	Absence Epilepsy (Childhood Absence Epilepsy) 05/2013
1	Generalized Epilepsy 05/2013
1	Febrile Seizures (Febrile Seizure) 05/2013
1	Long QT Syndrome 01/2011
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2011
1	Heart Diseases (Heart Disease) 01/2011
1	Cognitive Dysfunction 09/2010
1	5 Hypomyelinating Leukodystrophy 02/2008
1	Leukoencephalopathies 02/2008
1	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2005
1	Sialic Acid Storage Disease (Salla Disease) 12/2005
1	Glycogen Storage Disease Type II (Pompe's Disease) 10/2005
1	Necrosis 08/2000
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 08/2000
1	Myalgia 06/2000
1	Myoglobinuria 06/2000
1	Type 1C Limb-Girdle Muscular Dystrophy 03/2000
1	Muscle Weakness 03/2000

Drug/Important Bio-Agent (IBA)

7	Caveolin 3IBA 01/2011 - 03/2000
2	Pharmaceutical PreparationsIBA 05/2013 - 10/2005
2	GlycogenIBA 07/2007 - 10/2005
2	AmylopectinIBA 07/2007 - 09/2004
2	1,4-alpha-Glucan Branching Enzyme (Glycogen Branching Enzyme)IBA 07/2007 - 09/2004
2	Polysaccharides (Glycans)IBA 07/2007 - 09/2004
2	Creatine Kinase (Creatine Phosphokinase)IBA 08/2000 - 03/2000
1	CollagenIBA 03/2018
1	Mitochondrial DNA (mtDNA)IBA 08/2017
1	Myosin Heavy Chains (Myosin Heavy Chain)IBA 01/2016
1	Laminin (Merosin)IBA 09/2010
1	GlycosyltransferasesIBA 05/2009
1	Dystroglycans (Dystroglycan)IBA 05/2009
1	Membrane Proteins (Integral Membrane Proteins)IBA 02/2008
1	polyglucosanIBA 07/2007
1	Lysosomal Membrane ProteinsIBA 12/2005
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 12/2005
1	prolylleucineIBA 12/2000
1	Carnitine palmitoyl transferase 2 deficiencyIBA 06/2000
1	Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)IBA 06/2000

Therapy/Procedure

1	Therapeutics 05/2013