Patrizia Sabatelli Selected Research

Bethlem myopathy

11/2020	Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations.
4/2016	Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy.
3/2015	Detecting collagen VI in Bethlem myopathy.
10/2014	NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models.
1/2014	Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors.
7/2011	Macrophages: a minimally invasive tool for monitoring collagen VI myopathies.
11/2010	Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration.
3/2010	Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
6/2009	Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice.
4/2008	Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies.

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Patrizia Sabatelli Research Topics

Disease

21	Scleroatonic muscular dystrophy 01/2022 - 11/2002
16	Muscular Diseases (Myopathy) 11/2020 - 12/2003
12	Bethlem myopathy 11/2020 - 11/2002
10	Muscular Dystrophies (Muscular Dystrophy) 01/2022 - 12/2007
8	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2020 - 05/2009
8	Mitochondrial Diseases (Mitochondrial Disease) 01/2014 - 12/2003
4	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 05/2005
4	Muscle Weakness 11/2020 - 08/2007
3	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018 - 12/2003
3	Laminopathies 01/2006 - 05/2005
2	Neuromuscular Diseases (Neuromuscular Disease) 01/2021 - 10/2007
2	Contracture 11/2020 - 08/2007
2	Neoplasms (Cancer) 10/2020 - 01/2020
2	Disease Progression 10/2020 - 08/2015
2	Fibrosis (Cirrhosis) 01/2019 - 04/2012
1	Lipodystrophy 01/2021
1	Kyphosis 01/2021
1	Joint Instability (Joint Laxity) 11/2020
1	Cardiomyopathies (Cardiomyopathy) 01/2019
1	Lymphedema (Milroy Disease) 01/2019
1	Emery-Dreifuss Muscular Dystrophy (Scapuloperoneal Muscular Dystrophy) 01/2018
1	Sarcopenia 01/2014
1	Atrophy 10/2012
1	Type 2I Limb-Girdle Muscular Dystrophy 09/2012
1	Starvation 11/2010
1	Dog Diseases (Disease, Canine) 06/2010
1	Dmd-Associated Dilated Cardiomyopathy 12/2007
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 10/2007
1	Rhabdomyosarcoma 10/2007
1	Melanoma (Melanoma, Malignant) 11/2005
1	Myotonic Dystrophy (Dystrophia Myotonica) 06/2005
1	Myotonia 06/2005
1	Miyoshi myopathy 12/2003
1	Familial Partial Lipodystrophy (Dunnigan Syndrome) 11/2003

Drug/Important Bio-Agent (IBA)

29	CollagenIBA 01/2022 - 11/2002
9	Proteins (Proteins, Gene)FDA Link 01/2021 - 12/2003
5	Pharmaceutical PreparationsIBA 01/2021 - 06/2009
5	DystrophinIBA 08/2015 - 12/2007
5	Cyclosporine (Ciclosporin)FDA LinkGeneric 10/2014 - 01/2007
4	RNA (Ribonucleic Acid)IBA 01/2021 - 06/2010
4	Extracellular Matrix ProteinsIBA 10/2014 - 04/2008
3	Cyclophilins (Cyclophilin)IBA 10/2014 - 06/2009
2	Biomarkers (Surrogate Marker)IBA 01/2018 - 06/2013
2	Beclin-1IBA 12/2016 - 11/2010
2	(melle-4)cyclosporinIBA 10/2014 - 01/2014
2	OligomycinsIBA 01/2014 - 12/2003
2	OligonucleotidesIBA 06/2010 - 03/2010
2	ChromatinIBA 01/2006 - 10/2005
1	Biological ProductsIBA 01/2021
1	tocilizumab (atlizumab)FDA Link 01/2021
1	Phosphotransferases (Kinase)IBA 10/2020
1	GlucocorticoidsIBA 10/2020
1	PlatinumIBA 10/2020
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 01/2020
1	Adrenal Cortex Hormones (Corticosteroids)IBA 01/2020
1	CateninsIBA 01/2019
1	MicroRNAs (MicroRNA)IBA 01/2019
1	elastin microfibril interface located protein (emilin)IBA 01/2019
1	Cholinergic ReceptorsIBA 01/2018
1	alisporivirIBA 11/2017
1	Messenger RNA (mRNA)IBA 12/2016
1	Codon (Codons)IBA 08/2015
1	Mitochondrial Permeability Transition PoreIBA 10/2014
1	Adenosine Triphosphate (ATP)IBA 01/2014
1	IntegrinsIBA 09/2012
1	VinculinIBA 09/2012
1	Antisense OligonucleotidesIBA 06/2010
1	Antisense OligoribonucleotidesIBA 05/2009
1	Ion Channels (Ion Channel)IBA 04/2008
1	Reactive Oxygen Species (Oxygen Radicals)IBA 10/2007
1	Mitochondrial DNA (mtDNA)IBA 10/2007
1	AntioxidantsIBA 10/2007
1	CyclosporinsIBA 01/2007
1	LigandsIBA 11/2005
1	Chondroitin Sulfate ProteoglycansIBA 11/2005
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 09/2005
1	Creatine Kinase (Creatine Phosphokinase)IBA 06/2005
1	Nuclear Proteins (Protein, Nuclear)IBA 05/2005
1	DysferlinIBA 12/2003
1	emerinIBA 11/2003
1	LaminsIBA 11/2003
1	Lamin Type A (Lamin A)IBA 11/2003
1	Collagen Type VIIBA 11/2002

Therapy/Procedure

9	Therapeutics 10/2020 - 01/2007
2	Drug Therapy (Chemotherapy) 10/2020 - 01/2020
1	Precision Medicine 01/2021
1	Protein-Restricted Diet (Diet, Protein Restricted) 12/2016