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Rashmi Kothary Selected Research

Hereditary Sensory and Autonomic Neuropathies (HSAN)

2/2020HSAN-VI: A spectrum disorder based on dystonin isoform expression.
1/2020Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.
10/2018Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI.
1/2015Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice.
5/2014Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.
2/2012Neuronal dystonin isoform 2 is a mediator of endoplasmic reticulum structure and function.
9/2008Dystonin/Bpag1 is a necessary endoplasmic reticulum/nuclear envelope protein in sensory neurons.

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Rashmi Kothary Research Topics

Disease

18Spinal Muscular Atrophy (Progressive Muscular Atrophy)
01/2022 - 01/2003
18Dystonia (Limb Dystonia)
02/2020 - 07/2002
7Hereditary Sensory and Autonomic Neuropathies (HSAN)
02/2020 - 09/2008
3Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker)
11/2006 - 05/2002
2Non-alcoholic Fatty Liver Disease
01/2021 - 01/2019
2Demyelinating Diseases (Demyelinating Disease)
12/2020 - 06/2006
2Muscular Atrophy (Muscle Atrophy)
05/2020 - 01/2016
2Inborn Genetic Diseases (Disease, Hereditary)
02/2020 - 10/2008
2Disease Progression
01/2020 - 01/2010
2Neurodegenerative Diseases (Neurodegenerative Disease)
01/2017 - 11/2011
2Virus Diseases (Viral Diseases)
11/2014 - 10/2010
2Dystonia musculorum deformans type 1
09/2014 - 01/2012
2Infections
08/2013 - 11/2011
2Movement Disorders (Movement Disorder)
01/2012 - 12/2007
2Neoplasms (Cancer)
11/2011 - 10/2010
1Neuromuscular Diseases (Neuromuscular Disease)
01/2022
1Insulin Resistance
01/2021
1Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)
01/2020
1Diarrhea
01/2020
1Abdominal Pain (Pain, Abdominal)
01/2020
1Fatty Liver
11/2019
1Nephrocalcinosis
10/2019
1Polycystic Kidney Diseases (Polycystic Kidney Disease)
10/2019
1Fibrosis (Cirrhosis)
10/2019
1Dyslipidemias (Dyslipidemia)
01/2019
1Megalencephaly
01/2019
1Sarcoma (Soft Tissue Sarcoma)
11/2018
1Macular Degeneration (Age-Related Maculopathy)
11/2016
1Atrophy
01/2016
1Hyperinsulinism (Hyperinsulinemia)
07/2014
1Weight Gain
07/2014
1Muscle Weakness
10/2013
1Paralysis (Palsy)
01/2013
1Ataxia (Dyssynergia)
01/2013
1Acidosis
08/2012
1Motor Neuron Disease (Primary Lateral Sclerosis)
08/2012
1Hyperlipidemias (Hyperlipidemia)
08/2012
1Hyperglycemia
08/2012
1Body Weight (Weight, Body)
03/2012
1Hereditary renal agenesis
06/2011
1Cardiomyopathies (Cardiomyopathy)
05/2005

Drug/Important Bio-Agent (IBA)

23Proteins (Proteins, Gene)FDA Link
01/2022 - 07/2002
17DystoninIBA
02/2020 - 08/2002
4Protein Isoforms (Isoforms)IBA
02/2020 - 10/2013
3Fatty Acids (Saturated Fatty Acids)IBA
01/2021 - 08/2012
3Glucose (Dextrose)FDA LinkGeneric
10/2019 - 08/2012
3DystrophinIBA
11/2006 - 05/2002
2ProteomeIBA
01/2019 - 05/2005
2trichostatin A (A 300)IBA
01/2016 - 01/2014
2Glutamic Acid (Glutamate)FDA Link
09/2014 - 01/2012
1Pharmaceutical PreparationsIBA
12/2020
1Metformin (Glucophage)FDA LinkGeneric
12/2020
1NAD (NADH)IBA
01/2020
1Oxidoreductases (Dehydrogenase)IBA
01/2020
1Insulin-Like Growth Factor Binding ProteinsIBA
10/2019
1CreatinineIBA
10/2019
1Calcium-Sensing ReceptorsIBA
10/2019
1CalciumIBA
10/2019
1SodiumIBA
10/2019
1CalbindinsIBA
10/2019
1Cystatin CIBA
10/2019
1Triglycerides (Triacylglycerol)IBA
01/2019
1DNA-Binding Proteins (DNA Binding Protein)IBA
11/2018
1Superoxide Dismutase-1IBA
11/2018
1TubulinIBA
10/2018
1Amino AcidsFDA Link
05/2018
1GlucocorticoidsIBA
05/2018
1Biomarkers (Surrogate Marker)IBA
10/2017
1Cell Surface ReceptorsIBA
11/2014
1AAA ProteinsIBA
09/2014
1Insulin (Novolin)FDA Link
07/2014
1Glucagon (Glukagon)FDA Link
07/2014
1Prion ProteinsIBA
05/2014
1Histone Deacetylase InhibitorsIBA
01/2014
1theasinensin AIBA
01/2014
1Sodium Channels (Sodium Channel)IBA
10/2013
1Muscle Proteins (Muscle Protein)IBA
10/2013
1Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
10/2013
1RibonucleoproteinsIBA
02/2013
1Small Nuclear RNA (snRNA)IBA
02/2013
1Cholinergic ReceptorsIBA
01/2013
1PlakinsIBA
03/2012
1fasudil (AT 877)IBA
03/2012
1Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA
11/2011
1LigandsIBA
11/2011
1Single-Domain AntibodiesIBA
11/2011
1Cytoskeletal ProteinsIBA
11/2011
1Adenosine Triphosphate (ATP)IBA
06/2011
1EpitopesIBA
10/2010
1Messenger RNA (mRNA)IBA
01/2010
1CuprizoneIBA
06/2006
1UtrophinIBA
06/2005
1Phosphotransferases (Kinase)IBA
05/2005
1Mitogen-Activated Protein KinasesIBA
05/2005

Therapy/Procedure

4Therapeutics
01/2020 - 01/2003
2Denervation
05/2020 - 09/2015
1Fat-Restricted Diet (Diet, Fat Restricted)
11/2019
1Behavior Control
05/2018
1Transplantation
11/2016
1Muscle Denervation
10/2013