Forbes D Porter Selected Research

7-dehydrocholesterol

1/2017	A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
4/2016	Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.
11/2011	Adrenal function in Smith-Lemli-Opitz syndrome.
11/2010	Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer.
4/2010	Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.

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Forbes D Porter Research Topics

Disease

37	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 01/2022 - 10/2010
36	Smith-Lemli-Opitz Syndrome 01/2020 - 04/2002
13	Disease Progression 01/2022 - 01/2010
13	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2021 - 11/2010
6	Lathosterolosis 07/2010 - 04/2003
3	Ataxia (Dyssynergia) 01/2022 - 01/2017
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2022 - 12/2003
3	Inflammation (Inflammations) 01/2020 - 08/2012
3	Lysosomal Storage Diseases (Lysosomal Storage Disease) 12/2019 - 11/2012
3	Intellectual Disability (Idiocy) 04/2010 - 04/2002
3	Desmosterolosis 09/2006 - 04/2003
2	Hepatocellular Carcinoma (Hepatoma) 10/2021 - 10/2017
2	Autism Spectrum Disorder 01/2021 - 11/2020
2	Neuroinflammatory Diseases 12/2019 - 01/2014
2	Neoplasms (Cancer) 10/2015 - 01/2012
2	Neurodevelopmental Disorders 10/2013 - 08/2013
2	Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 09/2006 - 07/2003
1	Gliosis 05/2022
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 12/2021
1	Episodic Ataxia 12/2021
1	Cerebellar Diseases (Cerebellar Syndrome) 12/2021
1	Mitochondrial Diseases (Mitochondrial Disease) 10/2021
1	Sudden Death 10/2021
1	Autistic Disorder (Autism) 01/2021
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 01/2021
1	Deglutition Disorders (Dysphagia) 12/2020
1	Virus Diseases (Viral Diseases) 01/2020
1	Tangier Disease 01/2020
1	Congenital Abnormalities (Deformity) 01/2020
1	Fabry Disease (Fabry's Disease) 12/2019
1	Mucolipidoses (Sialidosis) 12/2019
1	Crohn Disease (Crohn's Disease) 01/2018
1	Mastoiditis 10/2017
1	Multiple Sclerosis 01/2017
1	Cognitive Dysfunction 01/2017
1	Weight Loss (Weight Reduction) 01/2017
1	Rare Diseases (Rare Disease) 12/2016

Drug/Important Bio-Agent (IBA)

58	CholesterolIBA 01/2022 - 04/2002
14	7-dehydrocholesterol reductaseIBA 10/2017 - 08/2003
12	LipidsIBA 01/2022 - 05/2006
9	Pharmaceutical PreparationsIBA 12/2021 - 08/2012
9	Biomarkers (Surrogate Marker)IBA 11/2021 - 01/2010
7	SterolsIBA 01/2021 - 04/2003
6	Proteins (Proteins, Gene)FDA Link 12/2019 - 04/2010
5	7-dehydrocholesterolIBA 01/2017 - 04/2010
4	GlycosphingolipidsIBA 11/2021 - 01/2020
4	SphingolipidsIBA 12/2020 - 10/2013
4	miglustat (Zavesca)FDA Link 12/2020 - 01/2012
3	EnzymesIBA 12/2019 - 08/2012
3	Simvastatin (Zocor)FDA LinkGeneric 01/2017 - 06/2005
3	Biological ProductsIBA 08/2012 - 11/2004
3	lathosterol delta-5-dehydrogenase (lathosterol oxidase)IBA 07/2010 - 07/2003
2	X-linked Creatine deficiencyIBA 10/2021 - 11/2020
2	ApolipoproteinsIBA 01/2021 - 11/2012
2	Bile Acids and Salts (Bile Acids)IBA 12/2020 - 01/2016
2	CyclodextrinsIBA 10/2019 - 08/2017
2	beta-CyclodextrinsIBA 01/2018 - 01/2017
2	SteroidsIBA 10/2015 - 10/2002
2	Messenger RNA (mRNA)IBA 10/2015 - 01/2012
2	NeurosteroidsIBA 05/2009 - 01/2004
1	CalbindinsIBA 05/2022
1	Riluzole FDA LinkGeneric 12/2021
1	Glutamic Acid (Glutamate)FDA Link 12/2021
1	Ceftriaxone (Ceftriaxon)FDA LinkGeneric 12/2021
1	GangliosidesIBA 10/2021
1	Apolipoproteins B (ApoB)IBA 01/2021
1	Apolipoprotein A-I (Apolipoprotein A1)IBA 01/2021
1	HDL CholesterolIBA 01/2021
1	Toll-Like Receptors (Toll-Like Receptor)IBA 11/2020
1	Muramidase (Lysozyme)IBA 11/2020
1	Proprotein Convertase 9IBA 03/2020
1	AcidsIBA 01/2020
1	cholesterol-binding proteinIBA 01/2020
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 01/2020
1	Lysosomal Membrane ProteinsIBA 01/2020
1	Toll-Like Receptor 3IBA 01/2020
1	Lysergic Acid Diethylamide (LSD)IBA 12/2019
1	RNA (Ribonucleic Acid)IBA 12/2019
1	Indicators and Reagents (Reagents)IBA 03/2019
1	LipopolysaccharidesIBA 01/2018
1	16S Ribosomal RNAIBA 01/2018
1	GlycolipidsIBA 01/2018
1	Investigational DrugsIBA 01/2018
1	dimemorfan (AT 17)IBA 10/2017
1	Vitamin D FDA LinkGeneric 10/2017
1	Histone Deacetylases (Histone Deacetylase)IBA 01/2017
1	sphingosine kinaseIBA 01/2017
1	Fingolimod Hydrochloride (FTY720)FDA Link 01/2017
1	2-Hydroxypropyl-beta-cyclodextrinIBA 01/2017
1	SphingosineIBA 01/2017
1	CateninsIBA 04/2016
1	Cerebrospinal Fluid ProteinsIBA 01/2016
1	CytochromesIBA 01/2016
1	CalciumIBA 11/2015
1	Hydrocortisone (Cortisol)FDA LinkGeneric 10/2015

Therapy/Procedure

13	Therapeutics 11/2021 - 03/2006
2	Anesthesia 12/2012 - 10/2002
1	Investigational Therapies (Experimental Therapy) 01/2022
1	Adjuvant Chemotherapy 10/2021
1	Activities of Daily Living (ADL) 01/2021