Functional analysis of the zebrafish ortholog of HMGCS1 reveals independent functions for cholesterol and isoprenoids in craniofacial development

There are 8 different human syndromes caused by mutations in the cholesterol synthesis pathway. A subset of these disorders such as Smith-Lemli-Opitz disorder, are associated with facial dysmorphia. However, the molecular and cellular mechanisms underlying such facial deficits are not fully understo...

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Veröffentlicht in:	PloS one 2017-07, Vol.12 (7), p.e0180856-e0180856
Hauptverfasser:	Quintana, Anita M, Hernandez, Jose A, Gonzalez, Cesar G
Format:	Artikel
Sprache:	eng
Schlagworte:	Aberration Abnormalities Animals Anticholesteremic Agents - pharmacology Atorvastatin Calcium - pharmacology Benzophenones - pharmacology Biology and Life Sciences Biosynthesis Body Patterning - drug effects Body Patterning - genetics Cell differentiation Cell Differentiation - drug effects Cholesterol Cholesterol - biosynthesis Cholesterol metabolism Chondrocytes Chondrocytes - drug effects Chondrocytes - metabolism Chondrocytes - pathology Chondrogenesis Congenital defects Craniofacial Abnormalities - genetics Craniofacial Abnormalities - metabolism Craniofacial Abnormalities - pathology Craniofacial growth Defects Differentiation (biology) Disorders Embryo, Nonmammalian Enzyme Inhibitors - pharmacology Epidemiology Fertilization Function analysis Functional analysis Gene expression Gene Expression Regulation, Developmental Gene mutation Genetic aspects Hedgehog protein Hedgehog Proteins - genetics Hedgehog Proteins - metabolism Humans Hydroxymethylglutaryl CoA Reductases - genetics Hydroxymethylglutaryl CoA Reductases - metabolism Hydroxymethylglutaryl-CoA Synthase - genetics Hydroxymethylglutaryl-CoA Synthase - metabolism Inhibition Kinases Medicine and Health Sciences Metabolism Mutants Mutation Neural crest Neural Crest - drug effects Neural Crest - metabolism Neural Crest - pathology Opitz syndrome Orofacial clefts Pathogenesis Pharmacology Physiological aspects Piperidines - pharmacology Proteins Pyridines - pharmacology Research and Analysis Methods Signal Transduction Skull Synthesis Terpenes Terpenes - antagonists & inhibitors Terpenes - metabolism Zebrafish Zebrafish Proteins - genetics Zebrafish Proteins - metabolism Zinc Finger Protein GLI1 - genetics Zinc Finger Protein GLI1 - metabolism
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