Jocelyn Laporte Selected Research

amphiphysin

1/2022	Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.
10/2021	Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.
1/2021	Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies.
11/2020	Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration.
1/2019	Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.
1/2018	Centronuclear myopathies under attack: A plethora of therapeutic targets.
12/2017	Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.
10/2015	Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton.
12/2014	Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
11/2014	N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.

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Jocelyn Laporte Research Topics

Disease

71	Congenital Structural Myopathies (Centronuclear Myopathy) 01/2022 - 02/2002
34	Muscular Diseases (Myopathy) 01/2022 - 12/2003
7	Disease Progression 01/2022 - 01/2012
6	Neuromuscular Diseases (Neuromuscular Disease) 01/2020 - 07/2006
5	Muscle Weakness 01/2022 - 05/2011
5	Neoplasms (Cancer) 01/2020 - 02/2008
5	Nemaline Myopathies (Nemaline Myopathy) 01/2020 - 12/2013
5	Cardiomyopathies (Cardiomyopathy) 01/2020 - 01/2011
5	Inborn Genetic Diseases (Disease, Hereditary) 06/2019 - 08/2008
4	Myotonic Dystrophy (Dystrophia Myotonica) 11/2014 - 09/2002
3	Muscle Hypotonia (Hypotonia) 01/2021 - 06/2013
3	Malignant Hyperthermia 01/2021 - 10/2012
3	Peripheral Nervous System Diseases (PNS Diseases) 10/2017 - 08/2008
3	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 06/2013 - 09/2002
2	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2022 - 01/2018
2	Central Core Myopathy (Central Core Disease) 01/2021 - 11/2017
2	Myofibrillar Myopathy 01/2020 - 06/2015
2	Atrophy 08/2018 - 10/2017
2	Hypospadias 01/2009 - 12/2006
2	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 08/2008 - 12/2007
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2022
1	Frontotemporal Dementia (Semantic Dementia) 01/2022
1	Glycogen Storage Disease (Glycogenosis) 01/2020
1	Brain Diseases (Brain Disorder) 01/2020
1	Distal Myopathies (Distal Muscular Dystrophy) 01/2020
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2019
1	Stormorken Syndrome 12/2018
1	Paralysis (Palsy) 11/2018
1	Breast Neoplasms (Breast Cancer) 11/2018
1	Proteostasis Deficiencies 01/2018
1	Pathologic Processes 01/2018
1	Experimental Nervous System Autoimmune Disease 10/2017
1	Autoimmune Diseases (Autoimmune Disease) 10/2017
1	Mitochondrial Diseases (Mitochondrial Disease) 10/2017
1	Inflammation (Inflammations) 10/2017
1	Dermatomyositis (Dermatopolymyositis) 10/2017
1	Congenital myasthenic syndrome with episodic apnea 01/2016
1	Cognitive Dysfunction 01/2016
1	Peroneal Neuropathies 10/2015
1	Myalgia 12/2014

Drug/Important Bio-Agent (IBA)

35	myotubularinIBA 10/2021 - 02/2002
28	Dynamin IIIBA 01/2022 - 11/2005
19	amphiphysinIBA 01/2022 - 09/2007
16	Proteins (Proteins, Gene)FDA Link 01/2022 - 11/2005
10	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2018 - 08/2002
9	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2019 - 02/2004
8	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 10/2021 - 10/2012
6	Phosphoinositide PhosphatasesIBA 10/2021 - 09/2007
6	phosphatidylinositol 3-phosphateIBA 04/2013 - 08/2002
5	Dynamins (Dynamin)IBA 01/2022 - 01/2012
5	Antisense OligonucleotidesIBA 01/2022 - 01/2017
5	GTP Phosphohydrolases (GTPases)IBA 01/2020 - 12/2007
3	Tamoxifen FDA LinkGeneric 10/2021 - 11/2018
3	CalciumIBA 10/2021 - 02/2013
3	RNA (Ribonucleic Acid)IBA 01/2021 - 06/2011
3	Protein Isoforms (Isoforms)IBA 11/2020 - 02/2011
3	ConnectinIBA 12/2018 - 10/2013
3	Small Interfering RNA (siRNA)IBA 01/2018 - 02/2008
3	nebulinIBA 10/2015 - 04/2014
3	Nonsense Codon (Nonsense Mutation)IBA 09/2015 - 12/2006
3	DesminIBA 06/2015 - 01/2011
3	LipidsIBA 06/2013 - 02/2004
2	Protein Kinases (Protein Kinase)IBA 01/2022 - 01/2018
2	Pharmaceutical PreparationsIBA 01/2021 - 11/2018
2	Oxidoreductases (Dehydrogenase)IBA 01/2019 - 11/2016
2	CalsequestrinIBA 12/2018 - 01/2018
2	EnzymesIBA 01/2016 - 08/2008
2	DNA (Deoxyribonucleic Acid)IBA 03/2014 - 01/2009
2	Testosterone (Sustanon)FDA Link 01/2009 - 02/2008
2	P-2 (P 2)IBA 08/2008 - 04/2004
2	phosphatidylinositol 3,5-diphosphateIBA 11/2006 - 02/2004
1	Myosin-Light-Chain KinaseIBA 01/2022
1	RNA-Binding Proteins (RNA-Binding Protein)IBA 01/2022
1	ProteomeIBA 01/2021
1	Myosins (Myosin)IBA 12/2020
1	Biomarkers (Surrogate Marker)IBA 06/2020
1	MyostatinIBA 06/2020
1	Glucose (Dextrose)FDA LinkGeneric 01/2020
1	GlycogenIBA 01/2020
1	FilaminsIBA 01/2020
1	Codon (Codons)IBA 10/2019
1	BuffersIBA 12/2018
1	CollagenIBA 08/2018
1	Cytoskeletal ProteinsIBA 01/2018
1	Interferon Type IIBA 10/2017
1	Cysteine (L-Cysteine)FDA Link 10/2017
1	Reactive Oxygen Species (Oxygen Radicals)IBA 10/2017
1	L-Type Calcium Channels (Dihydropyridine Receptor)IBA 01/2017
1	Phosphotransferases (Kinase)IBA 01/2017
1	Mitogen-Activated Protein KinasesIBA 01/2017
1	phosphatidylinositol-3-phosphataseIBA 01/2016
1	choline transporterIBA 01/2016
1	Cholinergic Agents (Cholinergics)IBA 01/2016
1	Protein AggregatesIBA 06/2015
1	NucleotidesIBA 01/2015
1	Phosphatidylinositol 4,5-Diphosphate (Phosphatidylinositol 4,5 Diphosphate)IBA 12/2014
1	Creatine Kinase (Creatine Phosphokinase)IBA 12/2014

Therapy/Procedure

8	Therapeutics 01/2021 - 06/2011
1	Investigational Therapies (Experimental Therapy) 01/2022
1	Intramuscular Injections 01/2018