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Timothy M Cox Selected Research

Neurodegenerative Diseases (Neurodegenerative Disease)

1/2023Upregulation of non-canonical and canonical inflammasome genes associates with pathological features in Krabbe disease and related disorders.
5/2022A novel brain-penetrant oral UGT8 inhibitor decreases in vivo galactosphingolipid biosynthesis in murine Krabbe disease.
11/2021L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.
2/2012GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed.
9/2011Insights into Krabbe disease from structures of galactocerebrosidase.

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Timothy M Cox Research Topics

Disease

38Gaucher Disease (Gaucher's Disease)
05/2023 - 05/2003
8Sandhoff Disease (Sandhoff's Disease)
11/2021 - 07/2006
7Iron Overload
01/2015 - 03/2004
6GM2 Gangliosidoses (GM2 Gangliosidosis)
11/2021 - 06/2009
5Neurodegenerative Diseases (Neurodegenerative Disease)
01/2023 - 09/2011
5Globoid Cell Leukodystrophy (Krabbe Disease)
01/2023 - 09/2011
5Neurologic Manifestations (Neurological Manifestations)
01/2023 - 02/2014
4Osteonecrosis (Kienbock's Disease)
10/2021 - 01/2011
3Pain (Aches)
01/2023 - 01/2015
3Neoplasms (Cancer)
07/2015 - 05/2003
3Hemochromatosis (Bronze Diabetes)
03/2010 - 05/2003
2Disease Progression
01/2023 - 12/2010
2Demyelinating Diseases (Demyelinating Disease)
01/2023 - 09/2011
2Neuroinflammatory Diseases
11/2021 - 03/2015
2Inborn Genetic Diseases (Disease, Hereditary)
10/2021 - 03/2004
2Rare Diseases (Rare Disease)
01/2019 - 01/2012
2Nervous System Diseases (Neurological Disorders)
01/2017 - 06/2009
2Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
03/2016 - 08/2004
2Parkinson Disease (Parkinson's Disease)
07/2015 - 02/2013
2Lysosomal Storage Diseases (Lysosomal Storage Disease)
02/2014 - 10/2010
2Tay-Sachs Disease
02/2012 - 07/2006
2Hyperferritinemia
06/2011 - 08/2005
2type 2 Hemochromatosis
10/2005 - 03/2004
1Tuberculosis (Tuberculoses)
01/2023
1Lung Diseases (Lung Disease)
01/2023
1Mucopolysaccharidoses
12/2022
1Bone Diseases (Bone Disease)
01/2022
1Seizures (Absence Seizure)
01/2022
1Cerebellar Diseases (Cerebellar Syndrome)
01/2022
1Sphingolipidoses (Sphingolipidosis)
11/2021
1Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)
12/2018
1Cardiac Arrhythmias (Arrythmia)
01/2018
1Thyrotoxicosis
01/2018
1Thyroid Diseases (Thyroid Disease)
01/2018
1Anemia
12/2016
1Thrombocytopenia (Thrombopenia)
12/2016
1Myocardial Infarction
06/2015
1Psychotic Disorders (Schizoaffective Disorder)
06/2015
1Body Weight (Weight, Body)
03/2015
1B-Cell Lymphoma (Lymphoma, B Cell)
01/2015
1Lymphoma (Lymphomas)
01/2015

Drug/Important Bio-Agent (IBA)

15EnzymesIBA
01/2023 - 09/2005
13Glucosylceramidase (Glucocerebrosidase)IBA
01/2023 - 05/2003
11Glucosylceramides (Glucocerebrosides)IBA
01/2023 - 01/2004
10eliglustatIBA
01/2023 - 10/2010
9Biomarkers (Surrogate Marker)IBA
01/2023 - 01/2004
9imigluceraseFDA Link
01/2023 - 01/2010
9IronIBA
01/2015 - 11/2002
8AcidsIBA
02/2019 - 12/2010
5GalactosylceramidaseIBA
01/2023 - 09/2011
5GlucosidasesIBA
01/2021 - 01/2015
5Hexosaminidases (Hexosaminidase)IBA
12/2020 - 07/2006
5miglustat (Zavesca)FDA Link
01/2017 - 05/2003
5HepcidinsIBA
06/2011 - 03/2004
4sphingosyl beta-glucosideIBA
01/2023 - 01/2015
4GlycosphingolipidsIBA
12/2022 - 05/2003
4ceramide glucosyltransferaseIBA
01/2017 - 10/2010
4LipidsIBA
01/2017 - 08/2004
4metal transporting protein 1 (ferroportin)IBA
09/2014 - 08/2005
3Proteins (Proteins, Gene)FDA Link
12/2022 - 07/2006
3ChemokinesIBA
07/2015 - 09/2005
3CytokinesIBA
07/2015 - 09/2006
2Psychosine (Galactosylsphingosine)IBA
05/2022 - 01/2017
2Galactosylceramides (Galactocerebrosides)IBA
05/2022 - 01/2017
2Lysergic Acid Diethylamide (LSD)IBA
01/2022 - 02/2014
2SphingolipidsIBA
11/2021 - 01/2010
2Hexosaminidase A (Hex A)IBA
12/2020 - 01/2017
2Chemokine CCL5IBA
01/2012 - 01/2011
2Mannose (D-Mannose)IBA
01/2011 - 10/2004
2chitotriosidaseIBA
01/2011 - 01/2004
2G(M2) Ganglioside (Ganglioside GM2)IBA
04/2008 - 07/2006
2Tartrate-Resistant Acid PhosphataseIBA
09/2006 - 10/2003
2Transferrin Receptors (Transferrin Receptor)IBA
10/2005 - 05/2003
1Lysophosphatidylcholines (Lysophosphatidylcholine)IBA
01/2023
1venglustatIBA
01/2023
1InflammasomesIBA
01/2023
1Arginine (L-Arginine)FDA Link
11/2021
1Protein Kinases (Protein Kinase)IBA
11/2021
1Phosphotransferases (Kinase)IBA
11/2021
1CDw17 antigen (lactosylceramide)IBA
01/2019
1Proteasome InhibitorsIBA
01/2019
1Bortezomib (Velcade)FDA Link
01/2019
1N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA
12/2018
1GlycosaminoglycansIBA
12/2018
1Amiodarone (Amiodarona)FDA LinkGeneric
01/2018
1Cytochrome P-450 CYP2D6 (CYP2D6)IBA
01/2017
1Hemoglobins (Hemoglobin)IBA
01/2017
1CholesterolIBA
03/2016
1SphingosineIBA
07/2015
1HydrolasesIBA
07/2015
1ParaproteinsIBA
01/2015
1heme arginateIBA
01/2015
1N-(4-aminophenethyl)spiroperidol (NAPS)IBA
01/2015

Therapy/Procedure

21Therapeutics
05/2023 - 05/2003
10Enzyme Replacement Therapy
05/2023 - 10/2004
7Enzyme Therapy
01/2017 - 05/2003
3Splenectomy
10/2021 - 01/2011
2Stem Cell Transplantation
01/2022 - 12/2010
2Complementary Therapies (Alternative Medicine)
01/2017 - 02/2014
1Transplantation
01/2022