Christopher A Wassif Selected Research

7-dehydrocholesterol reductase

10/2017	Vitamin D levels in Smith-Lemli-Opitz syndrome.
11/2010	Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer.
8/2010	Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.
7/2010	Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.
3/2006	Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.
9/2005	Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol.
7/2005	Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).
8/2003	27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway.

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Christopher A Wassif Research Topics

Disease

20	Smith-Lemli-Opitz Syndrome 10/2017 - 04/2002
14	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 12/2021 - 01/2012
6	Disease Progression 12/2021 - 11/2010
5	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2021 - 11/2010
4	Lathosterolosis 07/2010 - 04/2003
3	Inflammation (Inflammations) 01/2020 - 08/2012
2	Neuroinflammatory Diseases 12/2019 - 01/2014
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 12/2019 - 01/2018
2	Adenoma (Adenomas) 10/2015 - 03/2012
2	Neoplasms (Cancer) 10/2015 - 05/2015
2	Paraganglioma (Paragangliomas) 05/2015 - 03/2012
2	Pituitary Neoplasms (Pituitary Adenoma) 05/2015 - 03/2012
2	Pheochromocytoma 05/2015 - 03/2012
2	Intellectual Disability (Idiocy) 04/2010 - 04/2002
2	Desmosterolosis 07/2003 - 04/2003
1	Gliosis 05/2022
1	Cerebellar Diseases (Cerebellar Syndrome) 12/2021
1	Episodic Ataxia 12/2021
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 12/2021
1	Mitochondrial Diseases (Mitochondrial Disease) 10/2021
1	Sudden Death 10/2021
1	Autism Spectrum Disorder 01/2021
1	Autistic Disorder (Autism) 01/2021
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	Cognitive Dysfunction 01/2017
1	Multiple Sclerosis 01/2017
1	Liver Diseases (Liver Disease) 10/2016
1	Hyperplasia 10/2015
1	Acth-Independent Macronodular Adrenal Hyperplasia 10/2015
1	Renal Cell Carcinoma (Grawitz Tumor) 03/2012
1	Seminoma 03/2012
1	Gastrointestinal Stromal Tumors (Gastrointestinal Stromal Tumor) 03/2012

Drug/Important Bio-Agent (IBA)

28	CholesterolIBA 12/2021 - 04/2002
8	7-dehydrocholesterol reductaseIBA 10/2017 - 08/2003
7	Pharmaceutical PreparationsIBA 12/2021 - 08/2012
6	SterolsIBA 01/2021 - 04/2003
5	LipidsIBA 10/2021 - 05/2006
4	7-dehydrocholesterolIBA 01/2017 - 04/2010
4	Proteins (Proteins, Gene)FDA Link 08/2012 - 04/2010
3	Simvastatin (Zocor)FDA LinkGeneric 01/2017 - 06/2005
3	Biomarkers (Surrogate Marker)IBA 01/2016 - 01/2012
3	lathosterol delta-5-dehydrogenase (lathosterol oxidase)IBA 07/2010 - 07/2003
2	Glutamic Acid (Glutamate)FDA Link 12/2021 - 10/2016
2	EnzymesIBA 12/2019 - 08/2012
2	Succinate Dehydrogenase (Fumarate Reductase)IBA 05/2015 - 03/2012
2	Biological ProductsIBA 08/2012 - 07/2010
1	CalbindinsIBA 05/2022
1	Ceftriaxone (Ceftriaxon)FDA LinkGeneric 12/2021
1	Riluzole FDA LinkGeneric 12/2021
1	GangliosidesIBA 10/2021
1	X-linked Creatine deficiencyIBA 10/2021
1	Apolipoprotein A-I (Apolipoprotein A1)IBA 01/2021
1	ApolipoproteinsIBA 01/2021
1	HDL CholesterolIBA 01/2021
1	Apolipoproteins B (ApoB)IBA 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	GlycosphingolipidsIBA 01/2020
1	Lysosomal Membrane ProteinsIBA 01/2020
1	Lysergic Acid Diethylamide (LSD)IBA 12/2019
1	RNA (Ribonucleic Acid)IBA 12/2019
1	GlycolipidsIBA 01/2018
1	16S Ribosomal RNAIBA 01/2018
1	LipopolysaccharidesIBA 01/2018
1	Vitamin D FDA LinkGeneric 10/2017
1	CyclodextrinsIBA 08/2017
1	SphingolipidsIBA 01/2017
1	sphingosine kinaseIBA 01/2017
1	Histone Deacetylases (Histone Deacetylase)IBA 01/2017
1	Fingolimod Hydrochloride (FTY720)FDA Link 01/2017
1	Tyrosine (L-Tyrosine)FDA Link 10/2016
1	Glutamine (L-Glutamine)FDA Link 10/2016
1	Niacin (Nicotinic Acid)FDA LinkGeneric 10/2016
1	Niacinamide (Nicotinamide)FDA LinkGeneric 10/2016
1	Phenylalanine (L-Phenylalanine)FDA Link 10/2016
1	CateninsIBA 04/2016
1	Cerebrospinal Fluid ProteinsIBA 01/2016
1	CytochromesIBA 01/2016
1	SteroidsIBA 10/2015
1	oxidized low density lipoproteinIBA 10/2015
1	Messenger RNA (mRNA)IBA 10/2015
1	Hydrocortisone (Cortisol)FDA LinkGeneric 10/2015
1	Interleukin-13IBA 01/2014
1	Interleukin-3 (Interleukin 3)IBA 01/2014
1	Interleukin-10 (Interleukin 10)IBA 01/2014
1	miglustat (Zavesca)FDA Link 01/2014
1	AntioxidantsIBA 09/2013
1	Acetylcysteine (Siran)FDA LinkGeneric 09/2013
1	GTP-Binding Proteins (G-Protein)IBA 08/2012
1	Mitogen-Activated Protein KinasesIBA 08/2012
1	Arachidonic Acid (Vitamin F)IBA 08/2012
1	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 08/2012
1	Growth Hormone (Somatotropin)IBA 03/2012
1	Glucose (Dextrose)FDA LinkGeneric 01/2012

Therapy/Procedure

6	Therapeutics 01/2018 - 03/2006
1	Adrenalectomy 03/2012