List of works - Christopher A Wassif

27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway.

scientific article published in August 2003

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

scientific article published on 24 March 2003

A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1

scientific article published on 01 October 2021

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

scientific article published on 11 August 2016

A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.

scientific article published on 21 June 2013

Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature

scientific article published on 01 May 2006

An Efficient Approach to Evaluate Reporter Ion Behavior from MALDI-MS/MS Data for Quantification Studies Using Isobaric Tags

scientific article

Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome

scientific article published on 05 September 2008

Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal Cortex.

scientific article

Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness

scientific article

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

scientific article

Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 Pathology

scientific article published on 03 May 2022

DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients

scientific article published on 01 July 2005

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

scientific article

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets

scientific article

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.

scientific article

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

scientific article published in August 2010

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

scientific article

Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.

scientific article published on 10 May 2013

Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann-Pick Disease, Type C1

scientific article published on 31 March 2020

Genetic disorders of cholesterol biosynthesis in mice and humans.

scientific article

Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C.

scientific article

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort

scientific article

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

scientific article published on 12 March 2015

Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.

scientific article published on 08 May 2013

Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1

scientific article published on 31 December 2019

Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

scientific article

LIM homeobox transcription factors integrate signaling events that control three-dimensional limb patterning and growth.

scientific article published on April 2009

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency ⬇️

scientific journal article

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

scientific article

Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for screening of candidate therapeutic compounds

scientific article published on 15 August 2018

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

scientific article

Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome

scientific article

Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.

scientific article

Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice

scientific article published on 19 February 2015

Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.

scientific article published on 24 June 2013

Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight

scientific article

Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency

scientific article

Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

scientific article published on 01 September 2005

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

scientific article published on March 2014

Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.

scientific article

The LIM homeobox gene Lhx9 is essential for mouse gonad formation

scientific journal article

The role of Niemann-Pick type C2 in zebrafish embryonic development

scientific article published in April 2021

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients.

scientific article

List of works by Christopher A Wassif

27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathway.

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.

Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature

An Efficient Approach to Evaluate Reporter Ion Behavior from MALDI-MS/MS Data for Quantification Studies Using Isobaric Tags

Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome

Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal Cortex.

Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease

Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 Pathology

DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.

Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann-Pick Disease, Type C1

Genetic disorders of cholesterol biosynthesis in mice and humans.

Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C.

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.

Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1

Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

LIM homeobox transcription factors integrate signaling events that control three-dimensional limb patterning and growth.

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency ⬇️

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for screening of candidate therapeutic compounds

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome

Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.

Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice

Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.

Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight

Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency

Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.

The LIM homeobox gene Lhx9 is essential for mouse gonad formation

The role of Niemann-Pick type C2 in zebrafish embryonic development

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients.