Virginia Kimonis Selected Research

Valosin Containing Protein

6/2022	Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants.
1/2022	Pathogenic variants of Valosin-containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells.
1/2022	Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
1/2022	VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy.
1/2021	Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy.
1/2021	A p97/Valosin-Containing Protein Inhibitor Drug CB-5083 Has a Potent but Reversible Off-Target Effect on Phosphodiesterase-6.
1/2018	A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.
1/2018	Novel valosin-containing protein mutations associated with multisystem proteinopathy.
10/2015	Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.
2/2015	A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation.

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Virginia Kimonis Research Topics

Disease

13	Muscular Diseases (Myopathy) 06/2022 - 03/2005
12	Frontotemporal Dementia (Semantic Dementia) 06/2022 - 03/2005
10	Osteitis Deformans (Paget's Disease of Bone) 06/2022 - 02/2014
9	Prader-Willi Syndrome (Syndrome, Prader-Willi) 05/2022 - 04/2011
8	Proteostasis Deficiencies 01/2022 - 02/2014
7	Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia 01/2022 - 02/2007
4	Fabry Disease (Fabry's Disease) 06/2022 - 03/2021
4	Muscle Hypotonia (Hypotonia) 01/2022 - 01/2018
4	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2022 - 01/2018
4	Craniosynostoses (Craniosynostosis) 04/2014 - 09/2007
3	Muscle Weakness 01/2022 - 02/2015
3	Neoplasms (Cancer) 01/2022 - 12/2020
2	Disease Progression 06/2022 - 01/2018
2	Glycogen Storage Disease Type II (Pompe's Disease) 01/2022 - 07/2019
2	Cardiomyopathies (Cardiomyopathy) 01/2022 - 01/2022
2	Dementia (Dementias) 01/2022 - 10/2015
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2021 - 10/2015
2	Angelman Syndrome (Syndrome, Angelman) 10/2019 - 08/2010
2	Hyperphagia (Overeating) 01/2019 - 01/2019
2	autosomal dominant Inclusion body myopathy 02/2007 - 03/2005
1	Neuralgia (Stump Neuralgia) 06/2022
1	Toxic Optic Neuropathy 01/2022
1	Neuromuscular Diseases (Neuromuscular Disease) 01/2022
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2022
1	Parkinsonian Disorders (Parkinsonism) 01/2022
1	Abdominal Obesity 01/2022
1	Cognitive Dysfunction 01/2022
1	Movement Disorders (Movement Disorder) 01/2022
1	Excoriation Disorder 01/2022
1	Diabetes Mellitus 12/2021
1	COVID-19 12/2021
1	Vision Disorders (Hemeralopia) 01/2021
1	Mitochondrial complex I deficiency 01/2021
1	Photophobia (Light Sensitivity) 01/2021
1	Hereditary leiomyomatosis and renal cell cancer 12/2020
1	Gaucher Disease (Gaucher's Disease) 12/2020
1	Graft vs Host Disease (Graft-Versus-Host Disease) 12/2020
1	Non-Hodgkin Lymphoma (Lymphosarcoma) 12/2020
1	Developmental Bone Diseases (Bone Dysplasia) 07/2020
1	Camurati-Engelmann Syndrome (Progressive Diaphyseal Dysplasia) 07/2020
1	Neurodevelopmental Disorders 10/2019
1	Arhinia, choanal atresia, and microphthalmia 10/2019
1	Facioscapulohumeral Muscular Dystrophy 10/2019
1	Edema (Dropsy) 01/2019
1	Intellectual Disability (Idiocy) 01/2019
1	Insulin Resistance 01/2019
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2019
1	Morbid Obesity 01/2019
1	Mental Disorders (Mental Disorder) 01/2019

Drug/Important Bio-Agent (IBA)

14	Valosin Containing ProteinIBA 06/2022 - 03/2005
7	Growth Hormone (Somatotropin)IBA 05/2022 - 04/2011
6	EnzymesIBA 01/2022 - 10/2005
5	UbiquitinIBA 06/2022 - 03/2005
4	LipidsIBA 01/2021 - 01/2017
4	Proteins (Proteins, Gene)FDA Link 01/2021 - 01/2017
3	Proteasome Endopeptidase Complex (Proteasome)IBA 06/2022 - 02/2010
2	migalastatIBA 06/2022 - 12/2021
2	Biomarkers (Surrogate Marker)IBA 06/2022 - 01/2018
2	CB-5083IBA 01/2022 - 01/2021
2	AcidsIBA 01/2022 - 07/2019
2	Merozoite Surface Protein 1 (MSA1)IBA 01/2022 - 01/2021
2	Retinaldehyde (Retinal)IBA 01/2022 - 01/2017
2	NucleotidesIBA 01/2022 - 01/2021
2	GlycogenIBA 01/2022 - 07/2019
2	CytokinesIBA 12/2021 - 02/2014
2	Betaine (C.B.B.)FDA Link 10/2019 - 08/2010
2	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 10/2019 - 08/2010
2	Folic Acid (Vitamin M)FDA LinkGeneric 10/2019 - 08/2010
1	globotriaosylceramide (globotriosylceramide)IBA 06/2022
1	snRNP Core ProteinsIBA 01/2022
1	GlucosidasesIBA 01/2022
1	agalsidase beta FDA Link 12/2021
1	alpha-Galactosidase (Beano)IBA 09/2021
1	GalactosidasesIBA 03/2021
1	Carrier Proteins (Binding Protein)IBA 01/2021
1	Pharmaceutical PreparationsIBA 01/2021
1	Phosphoric Diester Hydrolases (Phosphodiesterases)IBA 01/2021
1	CeramidesIBA 01/2021
1	Rituximab (Mabthera)FDA Link 12/2020
1	imiglucerase FDA Link 12/2020
1	Monoclonal AntibodiesIBA 12/2020
1	Cyclophosphamide (Cytoxan)FDA LinkGeneric 12/2020
1	Doxorubicin (Adriamycin)FDA LinkGeneric 12/2020
1	Fumarate Hydratase (Fumarase)IBA 12/2020
1	Prednisone (Sone)FDA LinkGeneric 12/2020
1	Vincristine (Oncovin)FDA LinkGeneric 12/2020
1	Transforming Growth Factor beta (TGF-beta)IBA 07/2020
1	Adenosine Triphosphatases (ATPase)IBA 10/2019
1	alpha-Glucosidases (Acid Maltase)IBA 07/2019
1	human GAA protein (Myozyme)FDA Link 07/2019
1	Diazoxide (Hyperstat)FDA Link 01/2019
1	HydrocarbonsIBA 01/2019
1	Glucose (Dextrose)FDA LinkGeneric 01/2019

Therapy/Procedure

5	Enzyme Replacement Therapy 06/2022 - 12/2020
4	Sutures (Suture) 04/2014 - 09/2007
2	Therapeutics 01/2022 - 01/2021
1	Resistance Training 01/2022
1	Physical Therapy Modalities (Physical Therapy Technique) 01/2022
1	Occupational Therapy (Therapy, Occupational) 01/2022
1	Stem Cell Transplantation 12/2020